GLDC SCORE CALCULATOR

GLDC Database Results

GLDC Database Results


Variants with functional classification:


Nucleotide change Protein variant Reference amino acid Position Mutated amino acid Variant Classification Evidence Molecular Consequence Reference
NM_000170:c.2032-2034delCAG p.(Ala678del) Ala 678 del SEVERE None DELETION Swanson 2015, Coughlin 2017
NM_000170:c.959_969delinsGGGAG p.(Phe320_Prp323delinsTrpGlu) Phe 320_Prp323 delinsTrpGlu SEVERE Homologous patient DELETION Coughlin 2017
NM_000170:c.2267_2269delTCT p.(Phedel756) Phe 756 del SEVERE None DELETION Coughlin 2017
NM_000170:c.2403_2405dupTGC p.(Ala803dup) Ala 803 dup SEVERE None DUPLICATION Coughlin 2017
NM_000170:del exon 1 None None None None SEVERE None EXONS DELETION Swanson 2015, Conter 2006, Coughlin 2017
NM_000170:del exon 1-2 None None None None SEVERE Homologous patient EXONS DELETION Swanson 2015, Pat_Swanson_2015_33a, Morrison 2006, Coughlin 2017
NM_000170:del exon 1-3 None None None None SEVERE None EXONS DELETION Kuseyri Hübschmann 2022, Annals_neuro_2022, Takayanagi et al. 2000, Coughlin 2017
NM_000170:del exon 1-4 None None None None SEVERE Homologous patient EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 1-5 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 1-8 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 1-15 None None None None SEVERE None EXONS DELETION Kuseyri Hübschmann 2022, Annals_neuro_2022, Coughlin et al. 2017
NM_000170:del exon 1-16 None None None None SEVERE None EXONS DELETION Kuseyri Hübschmann 2022, Annals_neuro_2022, Kure et al. 2007, Coughlin 2017
NM_000170:del exon 1-17 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 1-21 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 1-22 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 1-24 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 1-25 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 2 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:dup exon 2-15 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 3 None None None None SEVERE None EXONS DELETION Lin 2018
NM_000170:dup exon 3 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 3-8 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 3-9 None None None None SEVERE None EXONS DELETION Pat_Swanson_2015_19, Swanson 2015, Kanekar 2013, Coughlin 2017
NM_000170:dup exon 3-21 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 3-21 None None None None SEVERE Homologous patient EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 3-25 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 4 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 4-8 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 4-9 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 4-15 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 5-8 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 5-15 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 8 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 9-15 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 9-21 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 10-21 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 10-11 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 11 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 12-17 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 16 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 16-21 None None None None SEVERE None EXONS DELETION Kuseyri Hübschmann 2022, Annals_neuro_2022, Coughlin et al. 2017
NM_000170:del exon 16-25 None None None None SEVERE None EXONS DELETION Swanson 2015, Coughlin 2017
NM_000170:del exon 17-21 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 18 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 22 None None None None SEVERE Homologous patient EXONS DELETION Kuseyri Hübschmann 2022, Kure et al. 2006
NM_000170:del exon 22-25 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:del exon 25 None None None None SEVERE None EXONS DELETION Coughlin 2017
NM_000170:c.799C>G p.(Pro267Ala) Pro 267 Ala INTERMEDIATE Experimental MISSENSE Pat_Bravo_08, Pat_Bravo_20, Coughlin 2017, Bravo-Alonso 2018
NM_000170:c.1643T>C p.(Leu548Pro) Leu 548 Pro INTERMEDIATE Experimental MISSENSE Pat_Bravo_13, Bravo-Alsono 2018
NM_000170:c.1117C>T p.(Arg373Trp) Arg 373 Trp INTERMEDIATE Experimental MISSENSE Kuseyri Hübschmann 2022, Pat_Bravo_21, Coughlin 2017, Pat_Bravo_22, Conter et al.2006, Bravo Alsono 2018
NM_000170:c.1097A>G p.(Gln366Arg) Gln 366 Arg INTERMEDIATE Homologous patient, Experimental MISSENSE Pat_Swanson_2015_76, Swanson 2015, Coughlin 2017
NM_000170:c.482A>G p.(Tyr161Cys) Tyr 161 Cys INTERMEDIATE Homologous patient MISSENSE Pat_Swanson_2015_234, Coughlin 2017, Swanson 2015, Korman 2006
NM_000170:c.847G>C p.(Ala283Pro) Ala 283 Pro INTERMEDIATE Experimental MISSENSE Pat_Swanson_2015_61a, Pat_Swanson_2015_61b, Swanson 2015, Coughlin 2017
NM_000170:c.1381C>T p.(Arg461Trp) Arg 461 Trp INTERMEDIATE Homologous patient, Experimental MISSENSE Swanson 2015, Bravo-Alsono 2018, Coughlin 2017
NM_000170:c.2596G>C p.(Asp866His) Asp 866 His INTERMEDIATE Experimental MISSENSE Pat_Bravo_08, Bravo-Alonso 2018, Coughlin 2017
NM_000170:c.2714T>G p.(Val905Gly) Val 905 Gly INTERMEDIATE Experimental MISSENSE Pat_Bravo_04, Pat_Swanson_2015_218, Swanson 2015, Bravo-Alsono 2018, Coughlin 2017
NM_000170:c.2720C>T p.(Pro907Leu) Pro 907 Leu INTERMEDIATE Computational MISSENSE None
NM_000170:c.1382G>A p.(Arg461Gln) Arg 461 Gln INTERMEDIATE, MILD Homologous patient, Experimental MISSENSE Swanson 2015, Pat_Swanson_2015_61a, Pat_Swanson_2015_61b, Conter 2016, Suzuki 2010, Coughlin 2017
NM_000170:c.872G>A p.(Cys291Tyr) Cys 291 Tyr MILD Homologous patient MISSENSE Pat_Swanson_2015_51, Swanson 2015, Bjoraker 2016, Coughlin 2017
NM_000170:c.3G>T p.(Met1Ile) Met 1 Ile MILD Homologous patient, Experimental MISSENSE Pat_Bravo_19, Pat_Bravo_22, Coughlin 2017, Bravo-Alonso 2018
NM_000170:c.1142T>C p.(Ile381Thr) Ile 381 Thr MILD Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.1166C>T p.(Ala389Val) Ala 389 Val MILD Homologous patient, Experimental MISSENSE Swanson 2015, Pat_Swanson_2015_45b, Pat_Swanson_2015_81b, Pat_Swanson_2015_81a, Bjoraker 2016, Dinopoulos 2005, Coughlin 2017
NM_000170:c.490T>C p.(Tyr164His) Tyr 164 His MILD Homologous patient MISSENSE Pat_Khraim_03, Pat_Khraim_02, Pat_Khraim_01, Khraim 2017
NM_000170:c.2405C>T p.(Ala802Val) Ala 802 Val MILD Homologous patient, Experimental MISSENSE Swanson 2015, Pat_Swanson_2015_245b, Pat_Korman_01, Pat_Korman_02, Pat_Korman_04, Pat_Korman_03, Coughlin 2017, Bjoraker 2016, Dinopoulos 2015
NM_000170.c.2798T>C p.(Ile933Thr) Ile 933 Thr MILD Homologous patient, Experimental MISSENSE Pat_Bravo_25, Swanson 2015, Bravo-Alonso 2018, Coughlin 2017
NM_000170:c.245T>C p.(Leu82Ser) Leu 82 Ser MILD Experimental MISSENSE Swanson 2015, Dinopoulos 2005, Coughlin 2017
NM_000170:c.605C>T p.(Ala202Val) Ala 202 Val MILD Homologous patient, Experimental MISSENSE Swanson 2015, Pat_Swanson_2015_32b, Kuseyri Hübschmann 2022, Pat_Brunel_01, Pat_Swanson_2015_315, Brunel-Guitton et al. 2011, Bjoraker 2016, Azize 2014, Coughlin 2017
None p.(Tyr263His) Tyr 263 His MILD Homologous patient MISSENSE None
NM_000170:c.806C>T p.(Thr269Met) Thr 269 Met MILD Homologous patient, Experimental MISSENSE Swanson 2015, Pat_Swanson_2015_33a, Pat_Swanson_2015_196, Coughlin 2017
NM_000170:c.1041A>C p.(Arg347Ser) Arg 347 Ser MILD Computational MISSENSE Pat_Swanson_2015_234
NM_000170:c.1084C>T p.(Arg362Cys) Arg 362 Cys MILD Homologous patient, Experimental MISSENSE Swanson_2015
NM_000170:c.1126A>G p.(Lys376Glu) Lys 376 Glu MILD Experimental MISSENSE Pat_Bravo_20, Coughlin 2017, Bravo Alonso 2018
NM_000170:c.1642C>G p.(Leu548Val) Leu 548 Val MILD Experimental MISSENSE Swanson 2015, Pat_Swanson_2015_298, Coughlin 2017
NM_000170:c.1819G>A p.(Gly607Ser) Gly 607 Ser MILD Experimental MISSENSE Pat_Swanson_2015_19, Coughlin 2017, Swanson 2015
NM_000170:c.1867T>C p.(Tyr623His) Tyr 623 His MILD Homologous patient, Experimental MISSENSE Pat_Bayrak_04, Genc 2018
NM_000172:c.1889G>C p.(Gly630Pro) Gly 630 Pro MILD Experimental MISSENSE Swanson _2015
None p.(Arg630Pro) Arg 630 Pro MILD Experimental MISSENSE Swanson_2015
NM_000172:c.2216G>A p.(Arg739His) Arg 739 His MILD Computational MISSENSE None
NM_000170:c.2368C>T p.(Arg790Trp) Arg 790 Trp MILD Homologous patient, Experimental MISSENSE Pat_Bravo_15, Coughlin 2017, Dinopoulos 2005, Bravo-Alsono 2018
NM_000170:c.2405C>A p.(Ala802Glu) Ala 802 Glu MILD Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.2951C>T p.(Pro984Leu) Pro 984 Leu MILD Homologous patient MISSENSE Kuseyri Hübschmann 2022, Annals_neuro_2022
NM_000170:c.2678C>T p.(Pro893Leu) Pro 893 Leu SEVERE Experimental MISSENSE Pat_Swanson_2015_44, Coughlin 2017
NM_000170:c.437C>A p.(Thr146Lys) Thr 146 Lys SEVERE Experimental MISSENSE Pat_Bravo_01, Coughlin 2017, Bravo-Alsono 2017
NM_000170:c.1145G>A p.(Cys382Tyr) Cys 382 Tyr SEVERE Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.1420G>A p.(Glu474Lys) Glu 474 Lys SEVERE Computational MISSENSE Kuseyri Hübschmann 2022, Annals_neuro_2022, Kure et al. 2006
NM_000170:c.2T>C p.(Met1Thr) Met 1 Thr SEVERE Homologous patient MISSENSE Swanson_2015
NM_000170:c.1742C>G;NM_000170:c.1751C>G p.(Pro581Arg) Pro 581 Arg SEVERE Homologous patient, Experimental MISSENSE Pat_Bravo_01, Pat_Bravo_15, Rodríguez-Benítez 2014, Bravo-Alsono 2018, Coughlin 2017
NM_000170:c.2111G>T p.Gly704Val Gly 704 Val SEVERE Homologous patient MISSENSE Coughlin 2017, Bravo-Alonso 2018, Pat_Bravo_11
NM_000170:c.2237 A>G p.(Asp746Gly) Asp 746 Gly SEVERE Homologous patient MISSENSE Pat_Bayrak_10
NM_000170:c.518T>C p.(Leu173Pro) Leu 173 Pro SEVERE Experimental MISSENSE Pat_Bravo_06, Bravo-Alonso 2018, Coughlin 2017
NM_000170:c.1310C>T p.(Thr437Ile) Thr 437 Ile SEVERE Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.2423G>T p.(Ser808Ile) Ser 808 Ile SEVERE Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.1174G>C p.(Ala392Pro) Ala 392 Pro SEVERE Computational MISSENSE Kuseyri Hübschmann 2022, Annals of Neurology 2022, Takayanangi et al. 2000
NM_000170:c.1931G>A p.(Cys644Tyr) Cys 644 Tyr SEVERE Computational MISSENSE Kuseyri Hübschmann 2022, Conter et al. 2006, Annals_neuro_2022, Coughlin 2017
NM_000170:c.1738C>T p.(His580Tyr) His 580 Tyr SEVERE Experimental MISSENSE Pat_Bravo_03, Pat_Bravo_03, Bravo-Alonso 2018, Coughlin 2017
NM_000170:c.395C>T p.(Ser132Leu) Ser 132 Leu SEVERE Homologous patient, Experimental MISSENSE Swanson 2015, Kava 2018, Coughlin 2017
None p.(Arg515Ser) Arg 515 Ser SEVERE Homologous patient MISSENSE None
NM_000170:c.560C>A p.(Thr187Lys) Thr 187 Lys SEVERE Homologous patient MISSENSE Conter 2006, Coughlin 2017
NM_000170:c.594T>A;NM_000170:c.593A>T p.(Asp198Val) Asp 198 Val SEVERE Homologous patient MISSENSE Coughlin 2017
NM_000170:c.911C>T p.(Pro304Leu) Pro 304 Leu SEVERE Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.1114A>T p.(Ile372Phe) Ile 372 Phe SEVERE Homologous patient MISSENSE Farris 2020, Azize 2014
NM_000172:c.1317G>T p.(Lys439Asn) Lys 439 Asn SEVERE Computational MISSENSE None
NM_000170:c.1545G>C p.(Arg515Ser) Arg 515 Ser SEVERE Experimental MISSENSE Swanson 2015, Pat_Swanson_2015_44, Coughlin 2017
NM_000170:c.1545G>C p.(Arg337Ser) Arg 515 Ser SEVERE Homologous patient MISSENSE Swanson 2015
NM_000170:c.1694C>T p.(Ser565Leu) Ser 565 Leu SEVERE Homologous patient MISSENSE Kuseyri Hübschmann 2022, Annals of Neurology 2022
NM_000170:c.1705G>A p.(Ala569Thr) Ala 569 Thr SEVERE Experimental MISSENSE Swanson 2015
NM_000170:c.1852G>A p.(Gly618Arg) Gly 618 Arg SEVERE Homologous patient, Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.1871C>A p.(Ala624Asp) Ala 624 Asp Severe Experimental MISSENSE Bravo Alsonso 2017, Coughlin 2017
NM_000170:c.1952A>G p.(His651Arg) His 651 Arg SEVERE Homologous patient MISSENSE Kuseyri Hübschmann 2022, Conter et al. 2006, Global Variome shared LOVD, Johan Van Hove, Coughlin 2017
NM_000170:c.1969A>C p.(Ser657Arg) Ser 657 Arg SEVERE Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.2113G>A p.(Val705Met) Val 705 Met SEVERE Homologous patient MISSENSE Pat_Bayrak_08
NM_000170:c.2237 A>T p.(Asp746Val) Asp 746 Val SEVERE Homologous patient MISSENSE Pat_Bayrak_01
NM_000170:c.2281G>C;NM_000170:c.2302G>A p.(Gly761Arg) Gly 761 Arg SEVERE Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.2288G>A p.(Gly763Asp) Gly 763 Asp SEVERE Experimental MISSENSE Pat_Bravo_05, Coughlin 2017, Bravo-Alsono 2018
NM_000170:c.2303G>A p.(Gly768Glu) Gly 768 Glu SEVERE Experimental MISSENSE Pat_Bravo_10, Bravo-Alonso 2018
NM_000170:c.2311G>A p.(Gly771Arg) Gly 771 Arg SEVERE Homologous patient, Experimental MISSENSE Swanson 2015, Pat_Meyer_01, Kuseyri Hübschmann 2022, Kure et al. 2006, Meyer 2010, Beijer 2012, Coughlin 2017, Kure et al. 2006, Kuseyri Hübschmann 2022, Coughlin 2017
NM_000170:c.2422A>C p.(Ser808Arg) Ser 808 Arg SEVERE Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.2498C>T p.(Ala833Val) Ala 833 Val SEVERE Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.2579G>T p.(Gly860Val) Gly 860 Val SEVERE Computational MISSENSE Kuseyri Hübschmann 2022, Annals_neuro_2022, Conter et al. 2006
NM_000170:c.2654T>C p.(Leu885Pro) Leu 885 Pro SEVERE Experimental MISSENSE Swanson 2015, Tsuyusaki 2012, Coughlin 2017
NM_000170:c.2846C>T p.(Pro949Leu) Pro 949 Leu SEVERE Homologous patient MISSENSE Coughlin 2017, McAdams 2009
NM_000170:c.2849A>G p.(His950Arg) His 950 Arg SEVERE Homologous patient, Experimental MISSENSE Swanson 2015, Coughlin 2017
NM_000170:c.2980G>A p.(Gly994Arg) Gly 994 Arg SEVERE Homologous patient, Experimental MISSENSE Pat_Bravo_02, Swanson 2015, Bravo-Alonso 2018, Coughlin 2017
NM_000170:c.13_16delGTAA p.(Ser5Valfs*27) Ser 5 Valfs*27 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.16delA p.(Ser6Valfs*90) Ser 6 Valfs*90 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.24G>A p.(Trp8X) Trp 8 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.28delC p.(Leu10Cysfs*81) Leu 10 Cysfs*81 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.128delA p.(Asp43Alafs*48) Asp 43 Alafs*48 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.127_128delAfs*47 p.(Asp43Trpfs*47) Asp 43 Trpfs*47 SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015
NM_000170:c.256_334del p.(Ser86Valfs_119) Ser 86 Valfs_119 SEVERE None TRUNCATION/FRAMESHIFT Kava 2018
NM_000170:c.355-362del8 p.(Thr119Cysfs*19) Thr 119 Cysfs*19 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c. 382C>T p.(Gln128Ter) Gln 128 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
NM_000170:c.391A>T p.(Arg131X) Arg 131 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.457G>T p.(Glu153X) Glu 153 Ter SEVERE None TRUNCATION/FRAMESHIFT Conter 2006
NM_000170:c.492C>G p.(Tyr164X) Tyr 164 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.496C>T  p.(Gln166X) Gln 166 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.499G>T p.(Glu167X) Glu 167 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015
NM_000170:c.499G>T p.(Glu167X) Glu 167 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015, Coughlin 2017
NM_000170:c.527delT p.(Leu176Tyrfs*55) Leu 176 Tyrfs*55 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.538C>T p.(Gln180X) Gln 180 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
NM_000170:c.538C>T p.(Gln180X) Gln 180 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015
NM_000170:c.547delG p.(Val183Cysfs*48) Val 183 Cysfs*48 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017, Swanson 2015
NM_000170:c.582_589del8 p.(Ser195Glyfs*2) Ser 195 Glyfs*2 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.600delG p.(Gly200fs_230) Gly 200 fs_230 SEVERE None TRUNCATION/FRAMESHIFT Bravo-Alonso 2018
NM_000170:c.600delG p.(Thr201Leufs*30) Thr 201 Leufs*30 SEVERE Homologous patient TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.674G>C p.(Tyr225C*) Tyr 225 C* SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.700C>T p.(Gln234X) Gln 234 Ter SEVERE Homologous patient TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.706C>T p.(Arg236X) Arg 236 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
NM_000170:c.729delCfs p.(Leu242Leufs*3) Leu 242 Leufs*3 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.731dupC p.(Ala244Alafs*32) Ala 244 Alafs*32 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.729delC p.(Thr244Leufs*3) Thr 244 Leufs*3 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.747delC p.(Cys250Valfs*48) Cys 250 Valfs*48 SEVERE Homologous patient TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.808G>T p.(Glu270X) Glu 270 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.919G>T p.(Glu307X) Glu 307 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.924delT p.(Phe308Leufs*3) Phe 308 Leufs*3 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.924delT p.(Phe308Leufs*3) Phe 308 Leufs*3 SEVERE Homologous patient TRUNCATION/FRAMESHIFT Pat_Bravo_09,Pat_Bravo_06 , Coughlin et al. 2017, Kuseyri Hübschmann 2022
NM_000170:c.984dupA p.(Pro329Thrfs*81) Pro 329 Thrfs*81 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1002_1003insT p.(Ala335Cysfs*75) Ala 335 Cysfs*75 SEVERE Homologous patient TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1160C>T p.(Arg337X) Arg 337 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1009C>T p.(Arg337X) Arg 337 Ter SEVERE Homologous patient TRUNCATION/FRAMESHIFT Swanson 2015
NM_000170:c.1040_1041delTG p.(Val347Aspfs*2) Val 347 Aspfs*2 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.1051delG p.(Val351X) Val 351 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1054delA p.(Thr352Glnfs*65) Thr 352 Glnfs*65 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1096C>T p.(Gln366X) Gln 366 Ter MILD None TRUNCATION/FRAMESHIFT Pat_Swanson_2015_76, Swanson_2015, Coughlin 2017
NM_000170:c.1108C>T p.(Gln370X) Gln 370 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1118G>A p.(Arg373Q*) Arg 373 Q* SEVERE None TRUNCATION/FRAMESHIFT Pat_Swanson_2015_92, Swanson_2015
NM_000170:c.1175delC p.(Ala392fs) Ala 392 fs SEVERE None TRUNCATION/FRAMESHIFT Conter 2006
NM_000170:c.1175delC p.(Ala392Valfs*25) Ala 392 Valfs*25 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1180delA p.(Met394Cysfs*23) Met 394 Cysfs*23 SEVERE Homologous patient TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1194C>A p.(Tyr398X) Tyr 398 Ter SEVERE Homologous patient TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1223_1227del5 p.(Ala408Glufs*4) Ala 408 Glufs*4 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1256C>G p.(Ser419X) Ser 419 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1256C>G p.(Ser419X) Ser 419 Ter SEVERE None TRUNCATION/FRAMESHIFT Jiang 2017
NM_000170:c.1270C>T p.(Arg424X) Arg 424 Ter SEVERE Homologous patient TRUNCATION/FRAMESHIFT Swanson 2015
NM_000170:c.1285_1286insCAAA p.(Leu429fs) Leu 429 fs SEVERE None TRUNCATION/FRAMESHIFT Conter 2006
NM_000170:c.1285insCAAC p.(Leu429Profs*5) Leu 429 Profs*5 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1342G>T p.(Glu448X) Glu 448 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1444delG p.(Ala482Thrfs*57) Ala 482 Thrfs*57 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1444dupG p.(Asp482Glyfs*10) Asp 482 Glyfs*10 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1444delG p.(Asp482Thrfs*57) Asp 482 Thrfs*57 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.1577_1580+3delACAGGTTinsCACACAAG p.(Asn526Thrfs*19) Asn 526 Thrfs*19 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.[1576insC; 1580delGinsCAA] p.(Asn526Thrfs*9) Asn 526 Thrfs*9 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1580delGinsCAA p.(Ser527Thrfs*13) Ser 527 Thrfs*13 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.1611C>A p.(Tyr537X) Tyr 537 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1642C>G p.(Leu548Val*) Leu 548 Val* SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.1666G>T p.(Gly556*) Gly 556 * SEVERE None TRUNCATION/FRAMESHIFT Pat_Bravo_04
NM_000170:c.1666G>T p.(Gly556X) Gly 556 Ter SEVERE None TRUNCATION/FRAMESHIFT Bravo-Alonso 2018
NM_000170:c.1666G>T p.(Gly556X) Gly 556 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1723G>T p.(Glu575X) Glu 575 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1765C>T p.(Gln589X) Gln 589 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1777 C>T p.(Gly593*) Gly 593 * SEVERE None TRUNCATION/FRAMESHIFT Pat_Bayrak_03
NM_000170:c.1777 C>T p.(Gly593*) Gly 593 * SEVERE None TRUNCATION/FRAMESHIFT Pat_Bayrak_03
NM_000170:c.1834delT p.(Cys612Valfs*18) Cys 612 Valfs*18 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1840C>T p.(Gln614X) Gln 614 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1869_1870insAT p.(Tyr623Metfs*10) Tyr 623 Metfs*10 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.1869_1870insAT p.(Ala624Metfs*11) Ala 624 Metfs*11 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1888C>T p.(Arg630X) Arg 630 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1896C>G p.(Tyr632X) Tyr 632 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2019T>A p.(Tyr637X) Tyr 637 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015
NM_000170:c.1921A>T p.(Arg641X) Arg 641 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1959delC p.(Asn654Thrfs*10) Asn 654 Thrfs*10 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2019T>A p.(Tyr673X) Tyr 673 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2021T>A p.(Tyr673X) Tyr 673 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015
None p.(Ala678del) Ala 678 del INTERMEDIATE Experimental TRUNCATION/FRAMESHIFT Swanson 2016
NM_000170:c.2081_2088del p.(Ala694Aspfs) Ala 694 Aspfs SEVERE None TRUNCATION/FRAMESHIFT Yoon 2012
NM_000170:c.2086delA p.(Met696X) Met 696 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2152_2154del3insTCCTGGTTTA p.(His718fs*12) His 718 fs*12 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2175C>G p.(Tyr725X) Tyr 725 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2176delC p.(Leu726X) Leu 726 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2186delC p.(Ala729Glufs*3) Ala 729 Glufs*3 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017, Swanson 2015
NM_000170:c.2317A>T p.(Lys773X) Lys 773 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2380_2399del20 p.(Ala794Glnfs*27) Ala 794 Glnfs*27 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2415G>A p.(Trp805X) Trp 805 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017, Swanson_2015
NM_000170:c.2415G>A p.(Trp805X) Trp 805 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015
NM_000170:c.2422delA p.(Ser808fs) Ser 808 fs SEVERE None TRUNCATION/FRAMESHIFT Conter 2006
NM_000170:c.2422delA p.(Ser808Valfs*13) Ser 808 Valfs*13 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2427_2428insGTTC p.(Ile810Valfs*19) Ile 810 Valfs*19 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2481_2484delACAA p.(Lys827Lysfs*7) Lys 827 Lysfs*7 SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015
NM_000170:c.2481_2484delACAA p.(Gln828Profs*7) Gln 828 Profs*7 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2524A>T p.(Lys842X) Lys 842 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2527C>T p.(Arg843X) Arg 843 Ter SEVERE None TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
NM_000170:c.2594delT p.(Leu865Trpfs*59) Leu 865 Trpfs*59 SEVERE None TRUNCATION/FRAMESHIFT Annals_neuro_2022, Kure et al. 2006, Kuseyri Hübschmann 2022
NM_000170:c.2614A>T p.(Lys872X) Lys 872 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2629G>A p.(Glu877X) Glu 877 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2720_2775del56 p.(Pro907Hisfs*7) Pro 907 Hisfs*7 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2770_2774del p.(Ile924Hisfs*7) Ile 924 Hisfs*7 SEVERE None TRUNCATION/FRAMESHIFT Annals_neuro_2022, Kuseyri Hübschmann 2022
NM_000170:c.2770_2774del p.(lle924Hisfs*7) lle 924 Hisfs*7 SEVERE None TRUNCATION/FRAMESHIFT Annals_neuro_2022, Kure et al. 2007, Kuseyri Hübschmann 2022
NM_000170:c.2775insA+c.2776TTCG>CAGA p.(Ile926Asnfs*6) Ile 926 Asnfs*6 SEVERE None TRUNCATION/FRAMESHIFT Swanson_2015
NM_000170:c.2776del4TTCGinsACAGA p.(Ile926Asnfs*6) Ile 926 Asnfs*6 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.2899G>T p.(Glu967X) Glu 967 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
None p.(Pro984Glnfs*47) Pro 984 Glnfs*47 SEVERE None TRUNCATION/FRAMESHIFT Kuseyri Hübschmann 2022
NM_000170:c.2999delG p.(Cys1000Leufs*30) Cys 1000 Leufs*30 SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017, Pat_Swanson_2015_80, Swanson_2015
NM_000170:c.2666+5G>A p.(Tyr858_Gly889del) Tyr 858_Gly889 del SEVERE None TRUNCATION/FRAMESHIFT Pat_Bravo_14
NM_000170:c.2631_2639del9 p.(Glu877_879Valdel) Glu 877_879 Valdel SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.1821_1831del 607fs None 607 fs SEVERE None TRUNCATION/FRAMESHIFT Dinopoulos 2005
NM_000170:c.2200C>T p.(Gln734X) Gln 734 Ter SEVERE None TRUNCATION/FRAMESHIFT Coughlin 2017
NM_000170:c.924delT p.(Phe308Leufs*3) Phe 308 Leufs*3 SEVERE None TRUNCATION/FRAMESHIFT Bravo-Alonso 2018
NM_000170:c.547delGfs*38 p.(Val183Glyfs*38) Val 183 Glyfs*38 SEVERE None TRUNCATION/FRAMESHIFT Pat_Swanson_2015_310

Patients from all papers


Nucleotide change 1 Nucleotide change 2 Protein variant 1 Protein variant 2 Variant Classification 1 Variant Classification 2 Evidence Disease form Molecular Consequence 1 Molecular Consequence 2 Reference
c.959G>A c.664C>T p.(Arg320His) p.(Arg222Cys) Not class Not class Heterozygous Att Good MISSENSE MISSENSE Swanson_2015
c.317T>C c.959G>A p.(Ile106Thr) p.(Arg320His) Not class Not class Heterozygous Att Good MISSENSE MISSENSE Swanson_2015
c.317T>C c.665G>C p.(Ile106Thr) p.(Arg222His) Not class Not class Heterozygous Att Intermediate MISSENSE MISSENSE Swanson_2015
c.959G>A c.317T>C p.(Arg320His) p.(Ile106Thr) Not class Not class Heterozygous Att Intermediate MISSENSE MISSENSE Swanson_2015
c.317T>C c.515T>C p.(Ile106Thr) p.(Leu172Pro) Not class Not class Heterozygous Att Intermediate MISSENSE MISSENSE Swanson_2015
c.605C>T c.605C>T p.(Ala202Val) p.(Ala202Val) Intermediate Not class Homologous Attenuated MISSENSE MISSENSE Pat_Swanson_2015_315, Brunel-Guitton et al. 2011, Pat_Brunel_01, Kuseyri Hübschmann 2022, Coughlin 2017, Swanson_2015
c.1166C>T c.1166C>T p.(Ala389Val) p.(Ala389Val) Mild Mild Homologous Attenuated MISSENSE MISSENSE Swanson_2015, Pat_Swanson_2015_81a, Pat_Swanson_2015_81b, Coughlin 2017, Dinopoulos 2005
c.2405C>T c.2405C>T p.(Ala802Val) p.(Ala802Val) Mild Mild Homologous Attenuated MISSENSE MISSENSE Pat_Korman_01, Pat_Korman_02, Pat_Korman_03, Pat_Korman_04, Dinopoulos 2005
c.1084C>T c.1084C>T p.(Arg362Cys) p.(Arg362Cys) Mild Mild Homologous Attenuated MISSENSE MISSENSE OYA_2022, Bravo-Alonso 2018, Pat_Bravo_23, Coughlin 2017
c.872G>A c.872G>A p.(Cys291Tyr) p.(Cys291Tyr) Mild None Homologous Attenuated MISSENSE MISSENSE Pat_Swanson_2015_51, Coughlin 2017, Swanson_2015, Bjoraker 2016
c.1097A>G c.1097A>G p.(Gln366Arg) p.(Gln366Arg) Intermediate None Homologous Attenuated MISSENSE MISSENSE Pat_Swanson_2015_76, Swanson_2015, Coughlin 2017
c.2798T>C c.2798T>C p.(Ile933Thr) p.(Ile933Thr) Mild None Homologous Attenuated MISSENSE MISSENSE Bravo-Alonso 2018, Coughlin 2017, Pat_Bravo_25
c.3G>T c.3G>T p.(Met1Ile) p.(Met1Ile) Mild None Homologous Attenuated MISSENSE MISSENSE Pat_Bravo_19, Coughlin 2017
c.2951C>T c.2951C>T p.(Pro984Leu) p.(Pro984Leu) Mild None Homologous Attenuated MISSENSE MISSENSE Annals_neuro_2022, Kuseyri Hübschmann 2022
c.806C>T c.806C>T p.(Thr269Met) p.(Thr269Met) Mild None Homologous Attenuated MISSENSE MISSENSE Pat_Swanson_2015_196, Swanson_2015, Coughlin 2017
c.490T>C c.490T>C p.(Tyr164His) p.(Tyr164His) Mild None Homologous Attenuated MISSENSE MISSENSE Pat_Khraim_01, Pat_Khraim_02, Pat_Khraim_03, Khraim 2017
c1867T>C c1867T>C p.(Tyr623His) p.(Tyr623His) Mild None Homologous Attenuated MISSENSE MISSENSE Pat_Bayrak_04, Genc 2018
c.1642C>G Del exon 1-25 p.(Leu548Val*) Del exon 1-25 Severe Severe Heterozygous Attenuated TRUNCATION/FRAMESHIFT EXONS DELETION Swanson 2015
c.1382G>A c.1929-2A>G p.(Arg461Gln) IVS17-2A>G Intermediate Not class Heterozygous Attenuated MISSENSE SPLICE SITE Swanson 2015
c.605C>T c.2665+1G>C p.(Ala202Val) IVS22+1G>C Intermediate Not class Heterozygous Attenuated MISSENSE SPLICE SITE Swanson 2015, Pat_Swanson_2015_32b, Bjoraker 2016, Coughlin 2017
c.2405C>T c.2665+1G>C p.(Ala802Val) IVS22+1G>C Intermediate Not class Heterozygous Attenuated MISSENSE SPLICE SITE Swanson 2015, Pat_Swanson_2015_245b, Coughlin 2017, Bjoraker 2016
c.2216G>A c.2919+5G>T p.(Arg739His) IVS24+5G>T in intron Not class Not class Heterozygous Attenuated MISSENSE SPLICE SITE Pat_Frazier_01
c.1580+2T>G c.1166C>T IVS12+2T>G p.(Ala389Val) Not class Intermediate Heterozygous Attenuated SPLICE SITE MISSENSE Swanson 2015, Coughlin 2017, Pat_Swanson_2015_45b
Del exon 3-21 c.2032-2034delCAG Del exon 3-21 p.(Ala678del) Severe None Heterozygous Attenuated EXON DELETION DELETION Swanson 2015, Coughlin 2017
c.2315+2T>G c.2405C>A IVS19+2T>G p.(Ala802Glu) Not class Mild Heterozygous Attenuated SPLICE SITE MISSENSE Swanson 2015, Coughlin 2017
c.482A>G c.1041A>C p.(Tyr161Cys) p.(Arg347Ser) Intermediate Intermediate Heterozygous Attenuated MISSENSE MISSENSE Pat_Swanson_2015_234, Swanson_2015, Coughlin 2017
c.1117C>T c.1270C>T p.(Arg373Trp) p.(Arg424Ter) Intermediate Severe Heterozygous Attenuated MISSENSE TRUNCATION/FRAMESHIFT Conter et al. 2006, Kuseyri Hübschmann 2022, Coughlin 2017
c.2999delG fs*30 c.1270C>T p.(Cys1000Lysfs*30) p.(Arg424Ter) Severe Severe Heterozygous Attenuated TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Pat_Swanson_2015_80, Swanson_2015, Coughlin 2017
c.847G>C c.1382G>A p.(Ala283Pro) p.(Arg461Gln) Intermediate Intermediate Heterozygous Attenuated MISSENSE MISSENSE Swanson_2015, Pat_Swanson_2015_61a, Pat_Swanson_2015_61b
c.1142T>C c.1382G>A p.(Ile381Thr) p.(Arg461Gln) Intermediate Intermediate Heterozygous Attenuated MISSENSE MISSENSE Swanson 2015, Coughlin 2017
c.2405C>T c.1545 G>C p.(Ala802Val) p.(Arg515Ser) Intermediate Severe Heterozygous Attenuated MISSENSE MISSENSE Swanson 2015, Coughlin 2017
c.1166C>T c.1545G>C p.(Ala389Val) (phase not known) p.(Arg515Ser) (phase not known) Intermediate Severe Heterozygous Attenuated MISSENSE MISSENSE Swanson 2015
c.466G>T c.2183G>A p.(Gly516Arg) p.(Gly728Glu) Not class Intermediate Heterozygous Attenuated MISSENSE MISSENSE Pat_Swanson_2015_322, Swanson_2015
c.2714T>C c.2183G>A p.(Val905Gly) p.(Gly728Glu) Intermediate Intermediate Heterozygous Attenuated MISSENSE MISSENSE Pat_Swanson_2015_218, Coughlin 2017, Swanson_2015
c.1889G>C c.1642C>G p.(Arg630Pro) p.(Leu548Val) Not class Mild Heterozygous Attenuated MISSENSE MISSENSE Pat_Swanson_2015_298, Swanson 2015, Coughlin 2017
c.799C>G c.1126A>G p.(Pro267Ala) p.(Lys376Glu) Intermediate Mild Heterozygous Attenuated MISSENSE MISSENSE Pat_Bravo_20, Coughlin 2017, Bravo-Alonso 2018
c.1117C>T c.3G>T p.(Arg373Trp) p.(Met1Ile) Intermediate Mild Heterozygous Attenuated MISSENSE MISSENSE Pat_Bravo_22, Bravo-Alonso 2018
c.2203-2A>G c.547delGfs*38 IVS18-2A>G p.(Val183Glyfs*38) Not class Severe Heterozygous Attenuated SPLICE SITE TRUNCATION/FRAMESHIFT Swanson 2015
c.1117C>T c.(¿_-1)_(334+1_335- 1)del p.(Arg373Trp) None Intermediate Severe Heterozygous Attenuated MISSENSE None Pat_Bravo_21, Bravo-Alonso 2018
c.1166C>T Del exon 2 p.(Ala389Val) Del exon 2 Intermediate Severe Heterozygous Attenuated NOS MISSENSE EXON DELETION Swanson_2015, Coughlin 2017
c.1078G>C c.2838G>A p.(Val360Leu) IVS23+5G>A Intermediate Not class Heterozygous Attenuated NOS MISSENSE SPLICE SITE Swanson_2015, Coughlin 2017
Del exon 16-25 c.605C>T Del exon 16-25 p.(Ala202Val) Severe Intermediate Heterozygous Attenuated NOS EXON DELETION MISSENSE Swanson_2015, Coughlin 2017
Del exon 3-21 c.2405C>T Del exon 3-21 p.(Ala802Val) Severe Intermediate Heterozygous Attenuated NOS EXON DELETION MISSENSE Swanson_2015, Coughlin 2017
c.1145G>A c.2405C>T p.(Cys382Tyr) p.(Ala802Val) Severe Intermediate Heterozygous Attenuated NOS MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.2798T>C c.811G>A p.(Ile933Thr) p.(Gly271Arg) Mild Intermediate Heterozygous Attenuated NOS MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.495C>T c.245T>C p.(Ser132Leu) p.(Leu82Ser) Severe Mild Heterozygous Attenuated NOS MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.1738C>G c.1844C>T p.(His580Asp) p.(Pro615Leu) Intermediate Not class Heterozygous Attenuated NOS MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.1819G>A c1580delGinsCAA p.(Gly607Ser) p.(Ser527Thrfs*13) Mild Severe Heterozygous Attenuated NOS MISSENSE TRUNCATION/FRAMESHIFT Swanson_2015
c.2665+1G>C c.2665+1G>C Del exon 22 Del exon 22 Severe Severe Homologous Fatal EXON DELETION EXON DELETION Kure et al. 2006, Kuseyri Hübschmann 2022
c.2311G>A c.2311G>A p.(Gly771Arg) p.(Gly771Arg) Intermediate None Homologous Fatal MISSENSE MISSENSE Kure et al. 2006, Kuseyri Hübschmann 2022, Coughlin 2017
c.1694C>T c.1694C>T p.(Ser565Leu) p.(Ser565Leu) Severe None Homologous Fatal MISSENSE MISSENSE Annals_neuro_2022, Kuseyri Hübschmann 2022
c.2770_2774del c.1-1926del p.(lle924Hisfs*7) Del exons 1-16 Severe Severe Heterozygous Fatal TRUNCATION/FRAMESHIFT EXON DELETION Annals_neuro_2022, Kure et al. 2007, Kuseyri Hübschmann 2022
c.1420G>A c.2594delT p.(Glu474Lys) p.(Leu865Trpfs*59) Severe Severe Heterozygous Fatal MISSENSE TRUNCATION/FRAMESHIFT Annals_neuro_2022, Kure et al. 2006, Kuseyri Hübschmann 2022
c.16delA c.16delA p.(Ser6Valfs*90) p.(Ser6Valfs*90) Severe None Homologous ND TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Swanson_2015
c.344+2+2insT c.230C>T IVS8+2insT p.(Ser77Leu) Not class Not class Heterozygous ND SPLICE SITE MISSENSE Swanson_2015
unknown c.1705G>A  None p.(Ala569Thr) Unknown Severe Unknown Severe None MISSENSE Swanson_2015
c.2665+1G>C unknown IVS22+1G>C None Not class Unknown Unknown Severe SPLICE SITE None Swanson_2015, Coughlin 2017
Del exon 1-2 Del exon 1-2 Del exon 1-2 Del exon 1-2 Severe Severe Homologous Severe EXON DELETION EXON DELETION Swanson_2015
Del exon 1-4 Del exon 1-4 Del exon 1-4 Del exon 1-4 Severe Severe Homologous Severe EXON DELETION EXON DELETION Swanson_2015
Del exon 3-21 Del exon 3-21 Del exon 3-21 Del exon 3-21 Severe Severe Homologous Severe EXON DELETION EXON DELETION Swanson 2015
c2186delC c2186delC p.(Ala729Glufs*3) p.(Ala729Glufs*3) Severe Severe Homologous Severe TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
c.959G>A c.959G>A p.(Arg320His) p.(Arg320His) Severe Severe Homologous Severe MISSENSE MISSENSE Swanson_2015
c.1009C>T c.1009C>T p.(Arg337Ter) p.(Arg337Ter) Severe Severe Homologous Severe TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
c.1270C>T c.1270C>T p.(Arg424Ter) p.(Arg424Ter) Severe Severe Homologous Severe TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Swanson_2015, Coughlin 2017
c.1381C>T c.1381C>T p.(Arg461Trp) p.(Arg461Trp) Severe None Homologous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.1545G>C  c.1545G>C  p.(Arg515Ser) p.(Arg515Ser) Severe None Homologous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.826G>C  c.826G>C  p.(Asp275His) p.(Asp275His) Severe None Homologous Severe MISSENSE MISSENSE Swanson_2015
c.2237 A>G c.2237 A>G p.(Asp746Gly) p.(Asp746Gly) Severe None Homologous Severe MISSENSE MISSENSE Pat_Bayrak_10
c.2237 A>T c.2237 A>T p.(Asp746Val) p.(Asp746Val) Severe None Homologous Severe MISSENSE MISSENSE Pat_Bayrak_01
c.499G>T  c.499G>T  p.(Glu167Ter) p.(Glu167Ter) Severe Severe Homologous Severe TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Swanson_2015, Coughlin 2017
c.1777 C>T c.1777 C>T p.(Gly593*) p.(Gly593*) Severe None Homologous Severe TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Pat_Bayrak_03
c.2849A>G  c.2849A>G  p.(His950Arg) p.(His950Arg) Severe None Homologous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.2T>C c.2T>C p.(Met1Thr) p.(Met1Thr) Severe None Homologous Severe MISSENSE MISSENSE Swanson_2015
c.924delT c.924delT p.(Phe308Leufs*3) p.(Phe308Leufs*3) Severe None Homologous Severe TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Pat_Bravo_09, Coughlin et al. 2017, Kuseyri Hübschmann 2022
c.495C>T c.495C>T p.(Ser132Leu) p.(Ser132Leu) Severe None Homologous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.2113G>A c.2113G>A p.(Val705Met) p.(Val705Met) Severe None Homologous Severe MISSENSE MISSENSE Pat_Bayrak_08
c.(?_- 1)_(1850+1_1851- 1)del c.(?_- 1)_(1850+1_1851- 1)del None None Severe None Homologous Severe None None Pat_Bravo_17
c.(?_-1)_(334+1_335- 1)del c.(?_-1)_(334+1_335- 1)del None None Severe None Homologous Severe None None Pat_Bravo_07
Del exon 3-25 c. 382C>T Del exon 3-25 p.(Gln128Ter) Severe Severe Heterozygous Severe EXON DELETION TRUNCATION/FRAMESHIFT Swanson_2015, Coughlin 2017
c.2481_2484delACAA c.2416G>C p.(Lys827Lysfs*7) p.(Gly806Arg) Severe Intermediate Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Swanson_2015
c.1869T>G Del exon 1 p.(Tyr623Ter) Del exon 1 Severe Severe Heterozygous Severe TRUNCATION/FRAMESHIFT EXON DELETION Swanson_2015
c.1545G>C Del exon 1-2 p.(Arg515Ser) Del exon 1-2 Severe Severe Heterozygous Severe MISSENSE EXON DELETION Swanson 2015, Coughlin 2017
c.806C>T Del exon 1-2 p.(Thr269Met) Del exon 1-2 Mild Severe Heterozygous Severe MISSENSE EXON DELETION Pat_Swanson_2015_33a, Swanson 2015, Coughlin 2017
c.706C>T Del exon 10-21 p.(Arg236Ter) Del exon 10-21 Severe Severe Heterozygous Severe TRUNCATION/FRAMESHIFT EXON DELETION Swanson 2015
Dup exon 3-21 Del exon 16 Dup exon 3-21 Del exon 16 Severe Severe Heterozygous Severe EXON DUPLICATION EXON DELETION Swanson 2015
Del exon 1-2 Del exon 3-21 Del exon 1-2 Del exon 3-21 Severe Severe Heterozygous Severe EXON DELETION EXON DELETION Swanson_2015
c.1819G>A Del exon 3-9 p.(Gly607Ser) Del exon 3-9 Mild Severe Heterozygous Severe MISSENSE EXON DELETION Pat_Swanson_2015_19, Swanson_2015, Coughlin 2017
Del exon 1-2 Del exon 4 Del exon 1-2 Del exon 4 Severe Severe Heterozygous Severe EXON DELETION EXON DELETION Swanson_2015
c.2775insA+c.2776TTCG>CAGA Del exon 4-15 p.(Ile926Asnfs*6) Del exon 4-15 Severe Severe Heterozygous Severe TRUNCATION/FRAMESHIFT EXON DELETION Swanson_2015, Coughlin 2017
c.2458-2A>G Del exon 4-9 IVS21-2A>G Del exon 4-9 Not class Severe Heterozygous Severe SPLICE SITE EXON DELETION Swanson 2015, Coughlin 2017
Del exon 1-17 Del exon 5-8 Del exon 1-17 Del exon 5-8 Severe Severe Heterozygous Severe EXON DELETION EXON DELETION Swanson 2015
c.2665+2T>C Del exon 8 IVS22+2T>C Del exon 8 Not class Severe Heterozygous Severe SPLICE SITE EXON DELETION Swanson_2015, Coughlin 2017
Del exon 1 c.1851-1G>A Del exon 1 IVS15-1G>A Severe Not class Heterozygous Severe EXON DELETION SPLICE SITE Swanson 2015, Coughlin 2017
c.2919+1G>A c.2316-1G>A IVS24+1G>A IVS19-1A>G Not class Not class Heterozygous Severe SPLICE SITE SPLICE SITE Swanson_2015, Coughlin 2017
c.1444delG c.2316-1G>A p.(Asp482Thrfs*57) IVS19-1A>G Severe Not class Heterozygous Severe TRUNCATION/FRAMESHIFT SPLICE SITE Swanson_2015, Coughlin 2017
c.1545G>C c.2316-1G>A p.(Arg515Ser) IVS19-1G>A Severe Not class Heterozygous Severe MISSENSE SPLICE SITE Swanson 2015, Coughlin 2017
Del exon 1-17 c.2665+1G>C Del exon 1-17 IVS22+1G>C Severe Not class Heterozygous Severe EXON DELETION SPLICE SITE Swanson 2015, Coughlin 2017
Del exon 1-2 c.2665+1G>C Del exon 1-2 IVS22+1G>C Severe Not class Heterozygous Severe EXON DELETION SPLICE SITE Swanson_2015, Coughlin 2017
c.1545G>C c.2665+1G>C p.(Arg515Ser) IVS22+1G>C Severe Not class Heterozygous Severe MISSENSE SPLICE SITE Swanson 2015, Coughlin 2017
c.729delCfs c.2665+1G>C p.(Leu242Leufs*3) IVS22+1G>C Severe Not class Heterozygous Severe TRUNCATION/FRAMESHIFT SPLICE SITE Swanson 2015
c.127_128delAfs*47  c.2919+1G>C p.(Asp43Trpfs*47) IVS24+1G>C Severe Not class Heterozygous Severe TRUNCATION/FRAMESHIFT SPLICE SITE Swanson_2015
c.280C>T  c.471+2T>C  p.(Arg94Trp) IVS4+2T>C Not class Not class Heterozygous Severe MISSENSE SPLICE SITE Swanson_2015
c.496C>T  c.696+5G>C p.(Gln166Ter) IVS6+5G>C‡ Severe Not class Heterozygous Severe TRUNCATION/FRAMESHIFT SPLICE SITE Swanson_2015
c.911C>T c.1705G>A p.(Pro304Leu) p.(Ala569Thr) Severe Severe Heterozygous Severe MISSENSE MISSENSE Swanson_2015
c.2316-1G>A c.2198C>T IVS19-1A>G p.(Ala733Val) Not class Severe Heterozygous Severe SPLICE SITE MISSENSE Swanson_2015, Coughlin 2017
c.1969A>C c.2405C>T p.(Ser657Arg) p.(Ala802Val) Severe Intermediate Heterozygous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
Del exon 1-2 c.2498C>T Del exon 1-2 p.(Ala833Val) Severe Severe Heterozygous Severe EXON DELETION MISSENSE Swanson 2015, Coughlin 2017
c.959G>A  c.665G>A p.(Arg320His) p.(Arg222His) Not class Not class Heterozygous Severe MISSENSE MISSENSE Swanson_2015
c.731dupC c.959G>A  p.(Ala244Alafs*32) p.(Arg320His) Severe Not class Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Swanson_2015
Del exon 1-2 c.1545G>C Del exon 1-2 p.(Arg515Ser) Severe Severe Heterozygous Severe EXON DELETION MISSENSE Swanson 2015, Coughlin 2017
c.2316-1G>A c.1545G>C IVS19-1A>G p.(Arg515Ser) Not class Severe Heterozygous Severe SPLICE SITE MISSENSE Swanson_2015
c.1166C>T c.1545G>C p.(Ala389Val) p.(Arg515Ser) Intermediate Severe Heterozygous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.2183G>A c.1545G>C p.(Gly728Glu) p.(Arg515Ser) Intermediate Severe Heterozygous Severe MISSENSE MISSENSE Swanson 2015, Coughlin 2017
c.2678C>T c.1545G>C p.(Pro893Leu) p.(Arg515Ser) Severe Severe Heterozygous Severe MISSENSE MISSENSE Pat_Swanson_2015_44, Coughlin 2017, Swanson_2015
c.1742C>G c.2368C>T p.(Pro581Arg) p.(Arg790Trp) Severe Mild Heterozygous Severe MISSENSE MISSENSE Pat_Bravo_15, Coughlin 2017, Bravo-Alonso 2018
c.2665+1G>C c.2527C>T IVS22+1G>C p.(Arg843Ter) Not class Severe Heterozygous Severe SPLICE SITE TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
c.2422A>C c.538C>T p.(Ser808Arg) p.(Gln180Ter) Severe Severe Heterozygous Severe MISSENSE TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
c.2422A>C c.952C>G p.(Ser808Arg) p.(Gln318Glu) Severe Intermediate Heterozygous Severe MISSENSE MISSENSE Swanson 2015, Coughlin 2017
c.1678A>G c.499G>T p.(Met560Val) p.(Glu167Ter) Intermediate Severe Heterozygous Severe MISSENSE TRUNCATION/FRAMESHIFT Swanson 2015, Coughlin 2017
c.2980G>A c.2584G>A p.(Gly994Arg) p.(Glu862Lys) Severe Intermediate Heterozygous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.1545G>C c.1852G>A p.(Arg515Ser) p.(Gly618Arg) Severe Severe Heterozygous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.1869T>G  c.2281G>C  p.(Tyr632Ter) p.(Gly761Arg) Severe Severe Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Swanson_2015, Coughlin 2017
c.(?_- 1)_(1707+1_1708- 1)del c.2303G>A None p.(Gly768Glu) Severe Severe Heterozygous Severe None MISSENSE Pat_Bravo_10
c.2316-1G>A c.2311G>A IVS19-1A>G p.(Gly771Arg) Not class Intermediate Heterozygous Severe SPLICE SITE MISSENSE Swanson_2015
c.1654A>G c.2311G>A p.(Met552Val) p.(Gly771Arg) Not class Intermediate Heterozygous Severe MISSENSE MISSENSE Pat_Meyer_01, Coughlin 2017
c.2021T>A c.2654T>C p.(Tyr673Ter) p.(Leu885Pro) Severe Intemediate Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Swanson_2015, Coughlin 2017
Del exon 1-21 c.1317G>T Del exon 1-21 p.(Lys439Asn) Severe Intermediate Heterozygous Severe EXON DELETION MISSENSE Swanson 2015, Coughlin 2017
c.518T>C c.924delT p.(Leu173Pro) p.(Phe308Leufs*3) Severe Severe Heterozygous Severe MISSENSE TRUNCATION/FRAMESHIFT Pat_Bravo_06, Coughlin 2017, Bravo-Alonso 2018
Del exon 1-25 c.1000T>C Del exon 1-25 p.(Phe334Leu) Severe Intermediate Heterozygous Severe EXON DELETION MISSENSE Swanson_2015
c.2596G>C c.799C>G p.(Asp866His) p.(Pro267Ala) Intermediate Intermediate Heterozygous Severe MISSENSE MISSENSE Pat_Bravo_08, Bravo-Alonso 2018
Del exon 1-24 c.2720C>T Del exon 1-24 p.(Pro907Leu) Severe Intermediate Heterozygous Severe EXON DELETION MISSENSE Swanson_2015, Coughlin 2017
c13_16delGTAA c.350C>T p.(Ser5Valfs*27) p.(Ser117Leu) Severe Not class Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Swanson_2015
c.499G>T c.395C>T p.(Glu167Ter) p.(Ser132Leu) Severe Severe Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Swanson_2015, Coughlin 2017
c.1310C>T c.495C>T p.(Thr437Ile) p.(Ser132Leu) Severe Severe Heterozygous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.1040_1041delTG c.230C>T p.(Val347Aspfs*2) p.(Ser77Leu) Severe Not class Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Swanson_2015
c.495C>T c.2423G>T p.(Ser132Leu) p.(Ser808Ile) Severe Intermediate Heterozygous Severe MISSENSE MISSENSE Swanson_2015, Coughlin 2017
c.1742C>G c.437C>A p.(Pro581Arg) p.(Thr146Lys) Severe Severe Heterozygous Severe MISSENSE MISSENSE Pat_Bravo_01, Coughlin 2017, Bravo-Alonso 2018
c.2980G>A c.600delG p.(Gly994Arg) p.(Thr201Leufs*30) Severe Severe Heterozygous Severe MISSENSE TRUNCATION/FRAMESHIFT Pat_Bravo_02, Coughlin 2017
c.887G>A c.845C>T p.(Arg296His) p.(Thr282Ile) Not class Not class Heterozygous Severe MISSENSE MISSENSE Swanson_2015
c.800C>T 2415G>A p.(Pro267Leu) p.(Trp805Ter) Intermediate Severe Heterozygous Severe MISSENSE TRUNCATION/FRAMESHIFT Swanson_2015, Coughlin 2017
c.2665+2T>C c.1869insAT IVS22+2T>C p.(Tyr623Metfs*10) Not class Severe Heterozygous Severe SPLICE SITE TRUNCATION/FRAMESHIFT Swanson_2015
Del exon 1 c.2450A>G Del exon 1 p.(Tyr817Cys) Severe Intermediate Heterozygous Severe EXON DELETION MISSENSE Swanson 2015, Coughlin 2017
c.674G>C c.635T>C p.(Tyr225Cys*) p.(Val212Ala) Severe Not class Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Swanson_2015
c.1666G>T c.2714T>G p.(Gly556*) p.(Val905Gly) Severe Intermediate Heterozygous Severe TRUNCATION/FRAMESHIFT MISSENSE Pat_Bravo_04, Coughlin 2017
Del exon 3-21 n.a.? Del exon 3-21 None Severe Severe Heterozygous Severe EXON DELETION None Swanson_2015
c.2111G>T c.(?_-1)_(713+1_714- 1)del p.(Gly704Val) None Severe Severe Heterozygous Severe MISSENSE None Pat_Bravo_11
c.2288G>A c.1927-4G>A p.(Gly763Asp) None Severe Not class Heterozygous Severe MISSENSE None Pat_Bravo_05
c.1738C>T c.(?_-1)_(470+1_471- 1)del p.(His580Tyr) None Severe Severe Heterozygous Severe MISSENSE None Pat_Bravo_03
c.1643T>C c.(?_-1)_(470+1_471- 1)del p.(Leu548Pro) None Intermediate Severe Heterozygous Severe MISSENSE None Pat_Bravo_13, Bravo-Alonso 2018
c.2666+5G>A c.(2919+1_2920- 1)_(*3063_?)del p.(Tyr858_Gly889del) None Severe Severe Heterozygous Severe EXON DELETION None Pat_Bravo_14
None None p.(lle924Hisfs*7) Deletion exons 1-16 Severe Severe Heterozygous Severe TRUNCATION/FRAMESHIFT EXON DELETION Oya 2022
c.1174G>C del exon 1_3 p.(Ala392Pro) Del exon 1_3 Severe Severe Heterozygous Severe living MISSENSE EXON DELETION Annals_neuro_2022, Takayanagi et al. 2000, Kuseyri Hübschmann 2022
c.450C>G del exon 1-15 p.(Asn150Lys) Del exon 1-15 Not class Severe Heterozygous Severe living MISSENSE EXON DELETION Annals_neuro_2022, Coughlin et al. 2017, Kuseyri Hübschmann 2022
c.3005G>A del exon 16-21 p.(Cys1002Tyr) Del exon 16-21 Not class Severe Heterozygous Severe living MISSENSE EXON DELETION Annals_neuro_2022, Coughlin et al. 2017, Kuseyri Hübschmann 2022
c.1580G>C c.2770_2774del p.(Ser527Thr) p.(Ile924Hisfs*7) Not class Severe Heterozygous Severe living MISSENSE TRUNCATION/FRAMESHIFT Annals_neuro_2022
c.1931G>A c.635+1G>C p.(Cys644Tyr) None Severe Not class Heterozygous Severe living MISSENSE None Conter et al. 2006, Annals_neuro_2022, Kuseyri Hübschmann 2022
c.2579G>T c.2316-1G>A p.(Gly860Val) None Severe Not class Heterozygous Severe living MISSENSE None Annals_neuro_2022, Conter et al. 2006, Kuseyri Hübschmann 2022
c.1952A>G c.2919+5G>T p.(His651Arg) None Severe Not class Heterozygous Severe living MISSENSE None Conter et al. 2006, Global Variome shared LOVD, Johan Van Hove, Kuseyri Hübschmann 2022
UNKNOWN c.2665+1G>A None IVS22+1G>A Unknown Not class Unknown None None SPLICE SITE Coughlin 2017
UNKNOWN c.2963G>A None p.(Arg988Gln) Unknown Not class Unknown None None MISSENSE Coughlin 2017
c.1742C>G UNKNOWN p.(Pro581Arg) None Severe Unknown Unknown None MISSENSE None Coughlin 2017
c.2729C>T UNKNOWN p.(Ser910Leu) None Not class Unknown Unknown None MISSENSE None Coughlin 2017
c.1054delA UNKNOWN p.(Thr352Glnfs*65) None Severe Unknown Unknown None TRUNCATION/FRAMESHIFT None Coughlin 2017
Incomplete analysis1 c.2315+2T>A None IVS19+2T>A Incomplete analysis Not class Incomplete analysis None None SPLICE SITE Coughlin 2017
Incomplete analysis1 c.1545G>C None p.(Arg515Ser) Incomplete analysis Severe Incomplete analysis None None MISSENSE Coughlin 2017
Incomplete analysis c.2150T>A None p.(Ile717Asn) Incomplete analysis Not class Incomplete analysis None None MISSENSE Coughlin 2017
c.2380-2399del20 Incomplete analysis2 apparently homozygous p.(Ala794Glnfs*27) None Severe Incomplete analysis Incomplete analysis None TRUNCATION/FRAMESHIFT None Coughlin 2017
c.1545G>C Incomplete analysis1 p.(Arg515Ser) None Severe Incomplete analysis Incomplete analysis None MISSENSE None Coughlin 2017
c.2200C>T Incomplete analysis1 p.(Gln734Ter) None Severe Incomplete analysis Incomplete analysis None TRUNCATION/FRAMESHIFT None Coughlin 2017
c.511G>T Incomplete analysis 3 p.(Gly171Trp) None Not class Incomplete analysis Incomplete analysis None MISSENSE None Coughlin 2017
c.1691G>T Incomplete analysis 1 p.(Ser564Ile) None Not class Incomplete analysis Incomplete analysis None MISSENSE None Coughlin 2017
c.1402-2A>T c.1402-2A>T IVS10-2A>T IVS10-2A>T Not class Not class Homologous None SPLICE SITE SPLICE SITE Coughlin 2017
c.1665+1G>A c.1665+1G>A IVS13+1G>A IVS13+1G>A Not class Not class Homologous None SPLICE SITE SPLICE SITE Coughlin 2017
c.2316-1G>A c.2316-1G>A IVS19-1G>A IVS19-1G>A Not class Not class Homologous None SPLICE SITE SPLICE SITE Coughlin 2017
c.2919+1G>A c.2919+1G>A IVS24+1G>A IVS24+1G>A Not class Not class Homologous None SPLICE SITE SPLICE SITE Coughlin 2017
c.2919+5G>T c.2919+5G>T IVS24+5G>T IVS24+5G>T Not class Not class Homologous None SPLICE SITE SPLICE SITE Coughlin 2017
c.470+1G>A c.470+1G>A IVS3+1G>A IVS3+1G>A Not class Not class Homologous None SPLICE SITE SPLICE SITE Coughlin 2017
c.636-1G>C c.636-1G>C IVS4-1G>C IVS4-1G>C Not class Not class Homologous None SPLICE SITE SPLICE SITE Coughlin 2017
c.1002insT c.1002insT p.(Ala335Cysfs*75) p.(Ala335Cysfs*75) Severe Severe Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.2329G>C c.2329G>C p.(Ala777Pro) p.(Ala777Pro) Not class Not class Homologous None MISSENSE MISSENSE Coughlin 2017
c.391A>T c.391A>T p.(Arg131Ter) p.(Arg131Ter) Severe Severe Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.1085G>C c.1085G>C p.(Arg362Pro) p.(Arg362Pro) Not class Not class Homologous None MISSENSE MISSENSE Coughlin 2017
c.1382G>A c.1382G>A p.(Arg461Gln) p.(Arg461Gln) Intermediate Intermediate Homologous None MISSENSE MISSENSE Coughlin 2017
c.1607G>A c.1607G>A p.(Arg536Gln) p.(Arg536Gln) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.1921A>T c.1921A>T p.(Arg641Ter) p.(Arg641Ter) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.2216G>A c.2216G>A p.(Arg739His) p.(Arg739His) Not class None Homologous None MISSENSE MISSENSE Dinopoulos 2005
c.2368C>T c.2368C>T p.(Arg790Trp) p.(Arg790Trp) Mild None Homologous None MISSENSE MISSENSE Coughlin 2017
c.2527C>T c.2527C>T p.(Arg843Ter) p.(Arg843Ter) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.2963G>A c.2963G>A p.(Arg988Gln) p.(Arg988Gln) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017, Kose 2017
c.593A>T c.593A>T p.(Asp198Val) p.(Asp198Val) Not class None Homologous None MISSENSE MISSENSE Yilmaz 2015
c.673T>C c.673T>C p.(Cys225Arg) p.(Cys225Arg) Not class None Homologous None MISSENSE MISSENSE Azize 2014
c.747delC c.747delC p.(Cys250Valfs*48) p.(Cys250Valfs*48) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.700C>T c.700C>T p.(Gln234Ter) p.(Gln234Ter) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.919G>T c.919G>T p.(Glu307Ter) p.(Glu307Ter) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.2376G>C c.2376G>C p.(Glu792Asp) p.(Glu792Asp) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.2901G>C c.2901G>C p.(Glu967Asp) p.(Glu967Asp) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.979G>T c.979G>T p.(Gly327Trp) p.(Gly327Trp) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.1852G>A c.1852G>A p.(Gly618Arg) p.(Gly618Arg) Severe None Homologous None MISSENSE MISSENSE Coughlin 2017
c.2111G>T c.2111G>T p.(Gly704Val) p.(Gly704Val) Severe None Homologous None MISSENSE MISSENSE Bravo-Alonso 2018
c.2296G>T c.2296G>T p.(Gly766Cys) p.(Gly766Cys) Not class None Homologous None MISSENSE MISSENSE Love 2014
c.2666G>T c.2666G>T p.(Gly889Val) p.(Gly889Val) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.2980G>A c.2980G>A p.(Gly994Arg) p.(Gly994Arg) Severe None Homologous None MISSENSE MISSENSE Coughlin 2017
c.851A>C c.851A>C p.(His284Pro) p.(His284Pro) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.1952A>G c.1952A>G p.(His651Arg) p.(His651Arg) Severe None Homologous None MISSENSE MISSENSE Conter 2006, Coughlin 2017
c.1114A>T c.1114A>T p.(Ile372Phe) p.(Ile372Phe) Not class None Homologous None MISSENSE MISSENSE Azize 2014
c.2797A>T c.2797A>T p.(Ile933Phe) p.(Ile933Phe) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.1685T>C c.1685T>C p.(Leu562Pro) p.(Leu562Pro) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.1180delA c.1180delA p.(Met394Cysfs*23) p.(Met394Cysfs*23) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.1988T>A c.1988T>A p.(Met663Lys) p.(Met663Lys) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.959_969del5insGGGAG c.959_969del5insGGGAG p.(Phe320_P323delinsTrpGlu) p.(Phe320_P323delinsTrpGlu) Severe None Homologous None EXON DELETION DELETION Coughlin 2017
c.799C>T c.799C>T p.(Pro267Ser) p.(Pro267Ser) Intermediate None Homologous None MISSENSE MISSENSE Coughlin 2017
c.986C>T c.986C>T p.(Pro329Leu) p.(Pro329Leu) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.1742C>G c.1742C>G p.(Pro581Arg) p.(Pro581Arg) Severe None Homologous None MISSENSE MISSENSE Rodríguez-Benítez 2014
c.2276C>G c.2276C>G p.(Pro759Arg) p.(Pro759Arg) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.2846C>T c.2846C>T p.(Pro949Leu) p.(Pro949Leu) Severe None Homologous None MISSENSE MISSENSE Coughlin 2017, McAdams 2009
c.1691G>T c.1691G>T p.(Ser564Ile) p.(Ser564Ile) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.560C>A c.560C>A p.(Thr187Lys) p.(Thr187Lys) Severe None Homologous None MISSENSE MISSENSE Conter 2006, Coughlin 2017
c.600delG c.600delG p.(Thr201Leufs*30) p.(Thr201Leufs*30) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.1148C>T c.1148C>T p.(Thr383Ile) p.(Thr383Ile) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.2489C>A c.2489C>A p.(Thr830Lys) p.(Thr830Lys) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.2722A>C c.2722A>C p.(Thr908Pro) p.(Thr908Pro) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.482A>G c.482A>G p.(Tyr161Cys) p.(Tyr161Cys) Intermediate None Homologous None MISSENSE MISSENSE Korman 2006, Coughlin 2017
c.976T>G c.976T>G p.(Tyr326Asp) p.(Tyr326Asp) Not class None Homologous None MISSENSE MISSENSE Coughlin 2017
c.1194C>A c.1194C>A p.(Tyr398Ter) p.(Tyr398Ter) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.1896C>G c.1896C>G p.(Tyr632Ter) p.(Tyr632Ter) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.2175C>G c.2175C>G p.(Tyr725Ter) p.(Tyr725Ter) Severe None Homologous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.2714T>G c.2714T>G p.(Val905Gly) p.(Val905Gly) Intermediate None Homologous None MISSENSE MISSENSE Coughlin 2017
c.395C>T c.2423G>T p.(Ser132Leu) p.(Ser808Ile) Severe Intermediate Heterozygous None MISSENSE MISSENSE Swanson 2015
c.1117C>T Del exon 1 p.(Arg373Trp) Del exon 1 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2450A>G delExon1 p.(Tyr817Cys) Del Exon 1 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Swanson 2015
c.2498C>T delExon1-2 p.(Ala833Val) Del Exon 1-2 Severe Severe Heterozygous None MISSENSE EXON DELETION Swanson 2015
c.2216G>A del Exon 1-2 p.(Arg739His) Del Exon 1-2 Not class Severe Heterozygous None MISSENSE EXON DELETION Morrison 2006, Coughlin 2017
c.1317G>T delExon1-21 p.(Lys439Asn) Del Exon 1-21 Not class Severe Heterozygous None MISSENSE EXON DELETION Swanson 2015
c.2720C>T del Exon 1-24 p.(Pro907Leu) Del Exon 1-24 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Swanson 2015
c.1642C>G del Exon 1-25 p.(Leu548Val) del Exon 1-25 Mild Severe Heterozygous None MISSENSE EXON DELETION Swanson 2015
c.1000T>C del Exon 1-25 p.(Phe334Leu) del Exon 1-25 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Swanson 2015
c.1117C>T Del exon 16 p.(Arg373Trp) Del exon 16 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2665+5G>A Del exon 25 p.(Tyr858_Gly889del) Del exon 25 Severe Severe Heterozygous None EXON DELETION EXON DELETION Coughlin 2017
c.1859A>G del Exon 3-9 p.(Gln620Arg) Del Exon 3-9 Not class Severe Heterozygous None MISSENSE EXON DELETION Kanekar 2013, Coughlin 2017
c.594T>A Del Exon 4 p.(Asp198Glu) Del Exon 4 Severe Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1545G>C Del exon 8 p.(Arg515Ser) Del exon 8 Severe Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1117C>T del Exon 1 p.(Arg373Trp) Del Exon1 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Conter 2006
c.2680A>G del Exon3 p.(Thr894Ala) Del Exon3 Not class Severe Heterozygous None MISSENSE EXON DELETION Lin 2018
c.1417G>C Del exons 1-15 p.(Asp473His) Del exons 1-15 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2919+1G>A Del exons 1-16 IVS24+1G>A Del exons 1-16 Not class Severe Heterozygous None SPLICE SITE EXON DELETION Coughlin 2017
c.861+2T>C Del exons 1-17 IVS6+2T>C Del exons 1-17 Not class Severe Heterozygous None SPLICE SITE EXON DELETION Coughlin 2017
c.1545G>C Del exons 1-17 p.(Arg515Ser) Del exons 1-17 Severe Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2316-1G>A Del exons 1-2 IVS19-1G>A Del exons 1-2 Not class Severe Heterozygous None SPLICE SITE EXON DELETION Coughlin 2017
c.707G>C Del exons 1-2 p.(Arg236Pro) Del exons 1-2 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1117C>T Del exons 1-2 p.(Arg373Trp) Del exons 1-2 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1108C>A Del exons 1-2 p.(Gln370Lys) Del exons 1-2 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2584G>A Del exons 1-2 p.(Glu862Lys) Del exons 1-2 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1642C>G Del exons 1-2 p.(Leu548Val) Del exons 1-2 Mild Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1126A>G Del exons 1-2 p.(Lys376Glu) Del exons 1-2 Mild Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2614A>T Del exons 1-2 p.(Lys872Ter) Del exons 1-2 Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT EXON DELETION Coughlin 2017
c.924delT Del exons 1-2 p.(Phe308Leufs*3) Del exons 1-2 Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT EXON DELETION Coughlin 2017
c.2755T>A Del exons 1-2 p.(Phe919Ile) Del exons 1-2 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2093C>T Del exons 1-2 p.(Thr698Ile) Del exons 1-2 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1078G>C Del exons 1-2 p.(Val360Leu) Del exons 1-2 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2714T>G Del exons 1-2 p.(Val905Gly) Del exons 1-2 Intermediate Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1545G>C Del exons 1-22 p.(Arg515Ser) Del exons 1-22 Severe Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.796T>G Del exons 1-22 p.(Tyr266Asp) Del exons 1-22 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2665+1G>T Del exons 1-25 IVS22+1G>C Del exons 1-25 Not class Severe Heterozygous None SPLICE SITE EXON DELETION Coughlin 2017
c.1051delG Del exons 1-25 p.(Val351Ter) Del exons 1-25 Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT EXON DELETION Coughlin 2017
c.1738C>T Del exons 1-3 p.(His580Tyr) Del exons 1-3 Severe Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
C.2489C>T Del exons 1-3 p.(Thr830Met) Del exons 1-3 Severe Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.916G>T Del exons 1-8 p.(Gly306Arg) Del exons 1-8 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1852G>A Del exons 1-8 p.(Gly618Arg) Del exons 1-8 Severe Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1691G>T Del exons 1-8 p.(Ser564Ile) Del exons 1-8 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1676C>A Del exons 10-11 p.(Thr559Asn) Del exons 10-11 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.706C>T Del exons 10-21 p.(Arg236Ter) Del exons 10-21 Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT EXON DELETION Coughlin 2017
c.1058+1G>C Del exons 12-17 IVS7+1G>C Del exons 12-17 Not class Severe Heterozygous None SPLICE SITE EXON DELETION Coughlin 2017
c.355-362del8 del exons 16-21 p.(Thr119Cysfs*19) del exons 16-21 Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT EXON DELETION Coughlin 2017
c.2885G>C Del exons 16-25 p.(Arg962Pro) Del exons 16-25 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2405C>T Del exons 3-21 p.(Ala802Val) Del exons 3-21 Mild Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2455A>G Del exons 3-21 p.(Lys819Glu) Del exons 3-21 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1871C>A Del exons 5-15 p.(Ala624Asp) Del exons 5-15 Severe Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.1577_1580+3delACAGGTTinsCACACAAG Del exons 5-15 p.(Asn526Thrfs*19) Del exons 5-15 Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT EXON DELETION Coughlin 2017
c.2489C>T Del exons 9-15 p.(Thr830Met) Del exons 9-15 Not class Severe Heterozygous None MISSENSE EXON DELETION Coughlin 2017
c.2631_2639del9 Del exons 9-21 p.(Glu877_879Valdel) Del exons 9-21 Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT EXON DELETION Coughlin 2017
c.2405C>T Dup exon 3 p.(Ala802Val) Dup exon 3 Mild Severe Heterozygous None MISSENSE EXON DUPLICATION Coughlin 2017
c.1868A>G Dup exons 2-15 p.(Tyr623Cys) Dup exons 2-15 Not class Severe Heterozygous None MISSENSE EXON DUPLICATION Coughlin 2017
c.847G>C c.256-3T>G p.(Ala283Pro) IVS1-3T>G Intermediate Not class Heterozygous None MISSENSE SPLICE SITE Coughlin 2017
c.2316-1G>A c.255+3A>T IVS19-1G>A IVS1+3A>T Not class Not class Heterozygous None SPLICE SITE SPLICE SITE Coughlin 2017
c.1166C>T c.1580+2T>G p.(Ala389Val) IVS12+2T>G Intermediate Not class Heterozygous None MISSENSE SPLICE SITE Bjoraker 2016
c.2403_2405dupTGC c.1580+2T>G p.(Ala803dup) IVS12+2T>G Severe Not class Heterozygous None EXON DUPLICATION SPLICE SITE Coughlin 2017
c.1382G>A c.1929-2A>G p.(Arg461Gln) IVS12+2T>G Intermediate Not class Heterozygous None MISSENSE SPLICE SITE Swanson 2015
c.984dupA c.1926+5G>A p.(Pro329Thrfs*81) IVS16+5G>A Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT SPLICE SITE Coughlin 2017
c.1382G>A c.2203-2A>G p.(Arg461Gln) IVS18-2A>G Intermediate Not class Heterozygous None MISSENSE SPLICE SITE Coughlin 2017
c.2316-1G>A Del exons 1-8 Del exons 1-8 IVS19-1G>A Not class Severe Heterozygous None EXON DELETION SPLICE SITE Coughlin 2017
c.2198C>T c.2316-1G>A p.(Ala733Val) IVS19-1G>A Intermediate Not class Heterozygous None MISSENSE SPLICE SITE Swanson 2015
c.1931G>T c.2316-1G>A p.(Cys644Phe) IVS19-1G>A Not class Not class Heterozygous None MISSENSE SPLICE SITE Coughlin 2017, Conter 2006
c.2311G>A c.2316-1G>A p.(Gly771Arg) IVS19-1G>A Intermediate Not class Heterozygous None MISSENSE SPLICE SITE Swanson 2015
c.2147T>A c.2316-1G>A p.(Leu716His) IVS19-1G>A Not class Not class Heterozygous None MISSENSE SPLICE SITE Coughlin 2017
c.2405C>A c.2315+2T>G p.(Ala802Glu) IVS19+2T>G Mild Not class Heterozygous None MISSENSE SPLICE SITE Swanson 2015
c.256-3T>G c.334+1G>T IVS1-3T>G IVS2+1G>T Not class Not class Heterozygous None SPLICE SITE SPLICE SITE Coughlin 2017
Del exons 1-8 c.2665+1G>T Del exons 1-8 IVS22+1G>C Severe Not class Heterozygous None EXON DELETION SPLICE SITE Coughlin 2017
Del exons 3-25 c.2665+1G>C Del exons 3-25 IVS22+1G>C Severe Not class Heterozygous None EXON DELETION SPLICE SITE Coughlin 2017
c.1342G>T c.2665+1G>C p.(Glu448Ter) IVS22+1G>C Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT SPLICE SITE Coughlin 2017
c.729delC c.2665+1G>C p.(Thr244Leufs*3) IVS22+1G>C Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT SPLICE SITE Coughlin 2017
c.24G>A c.2665+1G>C p.(Trp8Ter) IVS22+1G>C Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT SPLICE SITE Coughlin 2017
c.1691G>T c.2919+1G>A p.(Ser564Ile) IVS24+1G>A Not class Not class Heterozygous None MISSENSE SPLICE SITE Coughlin 2017
c.128delA c.2919+1G>C p.(Asp43Alafs*48) IVS24+1G>C Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT SPLICE SITE Coughlin 2017
c.2196T>A c.2838+5G>A p.(Asn732Lys) missplice Not class Severe Heterozygous None MISSENSE MISSPLICE Conter 2006
c.334+5G>A c.608C>T IVS2+5G>A p.(Ala203Val) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.2678C>T c.610_611GC>TT p.(Pro893Leu) p.(Ala204Leu) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1822T>G c.847G>C p.(Tyr608Asp) p.(Ala283Pro) Not class Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
Del exons 1-4 c.1166C>T Del exons 1-4 p.(Ala389Val) Severe Intermediate Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.1545G>C c.1166C>T p.(Arg515Ser) p.(Ala389Val) Severe Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1652G>T c.1166C>T p.(Ser551Ile) p.(Ala389Val) Not class Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1319T>A c.1175delC p.(Ile440Asn) p.(Ala392fs) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Conter 2006
c.806C>T c.1223_1227del5 p.(Thr269Met) p.(Ala408Glufs*4) Mild Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.2665+2T>C c.1869insAT IVS22+2T>C p.(Ala624Metfs*11) Not class Severe Heterozygous None SPLICE SITE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1117C>T c.1981G>C p.(Arg373Trp) p.(Ala661Pro) Intermediate Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1130C>T c.2081_2088del p.(Ala377Val) p.(Ala694Aspfs) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Yoon 2012
c.2665+1G>C c.2198C>A IVS22+1G>C p.(Ala733Asp) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
Del exon 1-4 c.2405C>T Del exon 1-4 p.(Ala802Val) Severe Intermediate Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.1009C>T c.2405C>T p.(Arg337Ter) p.(Ala802Val) Severe Intermediate Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.2311G>A c.2405C>T p.(Gly771Arg) p.(Ala802Val) Intermediate Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.24G>A c.2405C>T p.(Trp8Ter) p.(Ala802Val) Severe Intermediate Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.2422delA c.2521G>C p.(Ser808Valfs*13) p.(Ala841Pro) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
Del exons 1-3 c.706C>T Del exons 1-3 p.(Arg236Ter) Severe Severe Heterozygous None EXON DELETION TRUNCATION/FRAMESHIFT Coughlin 2017
c.847G>C c.1009C>T p.(Ala283Pro) p.(Arg337Ter) Intermediate Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.2324A>G c.1009C>T p.(His775Arg) p.(Arg337Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Conter 2006
c.1955G>A c.1118G>A p.(Gly652Glu) p.(Arg373Gln) Intermediate Severe Heterozygous None MISSENSE MISSENSE Swanson 2015, Coughlin 2017, Pat_Swanson_2015_92
c.28delC c.1270C>T p.(Leu10Cysfs*81) p.(Arg424Ter) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.1033C>A c.1270C>T p.(Pro345Thr) p.(Arg424Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1751C>G c.1270C>T p.(Pro581Arg) p.(Arg424Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1183T>A c.1382G>A p.(Phe395Ile) p.(Arg461Gln) Not class Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.395C>G c.1382G>A p.(Ser132Trp) p.(Arg461Gln) Not class Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017, Conter 2006
c.2288G>A c.1381C>T p.(Gly763Asp) p.(Arg461Trp) Severe Severe/Intermediate Heterozygous None MISSENSE MISSENSE Bravo-Alonso 2018, Coughlin 2017
Del exon 25 c.1545G>C Del exon 25 p.(Arg515Ser) Severe Severe Heterozygous None EXON DELETION MISSENSE Coughlin 2017
Del Exon 4-15 c.1545G>C Del Exon 4-15 p.(Arg515Ser) Severe Severe Heterozygous None EXON DELETION MISSENSE Coughlin 2017
Del exons 5-8 c.1545G>C Del exons 5-8 p.(Arg515Ser) Severe Severe Heterozygous None EXON DELETION MISSENSE Coughlin 2017
Deletion exon 4 c.1545G>C Deletion exon 4 p.(Arg515Ser) Severe Severe Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.256-7A>G c.1545G>C IVS1-7A>G p.(Arg515Ser) Not class Severe Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.1851-1G>A c.1545G>C IVS15-1G>A p.(Arg515Ser) Not class Severe Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.1850+1G>T c.1545G>C IVS15+1G>T p.(Arg515Ser) Not class Severe Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.2316-1G>A c.1545G>C IVS19-1G>A p.(Arg515Ser) Not class Severe Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.2838+2T>C c.1545G>C IVS23+2T>C p.(Arg515Ser) Not class Severe Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.862-1G>C c.1545G>C IVS6-1G>C p.(Arg515Ser) Not class Severe Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.1160C>T c.1545G>C p.(Arg337Ter) p.(Arg515Ser) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.1108C>T c.1545G>C p.(Gln370Ter) p.(Arg515Ser) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.2311G>A c.1545G>C p.(Gly771Arg) p.(Arg515Ser) Intermediate Severe Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1652G>T c.1545G>C p.(Ser551Ile) p.(Arg515Ser) Not class Severe Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.806C>T c.1545G>C p.(Thr269Met) p.(Arg515Ser) Mild Severe Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.547delG c.1545G>C p.(Val183Cysfs*48) p.(Arg515Ser) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.883G>T c.1607G>A p.(Asp295Tyr) p.(Arg536Gln) Not class Not class Heterozygous None MISSENSE MISSENSE Azize 2014
Del exons 3-8 c.1606C>T Del exons 3-8 p.(Arg536Trp) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.1940C>G c.1606C>T p.(Pro647Arg) p.(Arg536Trp) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1545G>C c.1888C>T p.(Arg515Ser) p.(Arg630Ter) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.2093C>T c.1888C>T p.(Thr698Ile) p.(Arg630Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1580+2T>A c.1921A>T IVS12+2T>A p.(Arg641Ter) Not class Severe Heterozygous None SPLICE SITE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1270C>T c.2368C>T p.(Arg424Ter) p.(Arg790Trp) Severe Mild Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.449A>C c.2368C>T p.(Asn150Thr) p.(Arg790Trp) Not class Mild Heterozygous None MISSENSE MISSENSE Dinopoulos 2005
c.2316-1G>A c.2527C>T IVS19-1G>A p.(Arg843Ter) Not class Severe Heterozygous None SPLICE SITE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1401+5G>T c.2885G>A IVS10+5G>T p.(Arg962Gln) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.2203-2A>G c.2885G>C IVS18-2A>G p.(Arg962Pro) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
Del exon 11 c.2896A>G Del exon 11 p.(Arg966Gly) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.1851-1G>A c.2962C>T IVS15-1G>A p.(Arg988Trp) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.1545G>C c.2962C>T p.(Arg515Ser) p.(Arg988Trp) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1819G>A c.[1576insC; 1580delGinsCAA] p.(Gly607Ser) p.(Asn526Thrfs*9) Mild Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.2176delC c.1846A>G p.(Leu726Ter) p.(Asn616Asp) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.2512A>G c.1864A>T p.(Asn838Asp) p.(Asn616Tyr) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
Del exons 1-2 c.1959delC Del exons 1-2 p.(Asn654Thrfs*10) Severe Severe Heterozygous None EXON DELETION TRUNCATION/FRAMESHIFT Coughlin 2017
c.1545G>C c.1444dupG p.(Arg515Ser) p.(Asp482Glyfs*10) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1840C>T c.2238T>A p.(Gln614Ter) p.(Asp746Glu) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.334+1G>T c.2236G>C IVS2+1G>T p.(Asp746His) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.1117C>T c.2639A>T p.(Arg373Trp) p.(Asp880Val) Intermediate Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1597A>T c.2639A>T p.(Asn533Tyr) p.(Asp880Val) Not class Not class Heterozygous None MISSENSE MISSENSE Conter 2006
c.1545G>C c.2751C>A p.(Arg515Ser) p.(Asp917Glu) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2678C>T c.2983G>A p.(Pro893Leu) p.(Asp995Asn) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.437C>A c.871T>C p.(Thr146Lys) p.(Cys291Arg) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.706C>T c.1145G>A p.(Arg236Ter) p.(Cys382Tyr) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.851A>C c.1834delT p.(His284Pro) p.(Cys612Valfs*18) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1375G>A c.2140T>C p.(Asn459Asp) p.(Cys714Arg) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
None None p.(Pro984Glnfs*47) p.(Gln180His) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Kuseyri Hübschmann 2022
c.505T>C c.952C>T p.(Ser169Pro) p.(Gln318Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.2885G>C c.1096C>T p.(Arg962Pro) p.(Gln366Ter) Not class Mild Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
Del exons 1-2 c.1765C>T Del exons 1-2 p.(Gln589Ter) Severe Severe Heterozygous None EXON DELETION TRUNCATION/FRAMESHIFT Coughlin 2017
c.395C>T c.2481_2484delACAA p.(Ser132Leu) p.(Gln828Profs*7) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.413A>T c.457G>T p.(Tyr138Phe) p.(Glu153Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Conter 2006
c.2316-1G>A c.499G>T IVS19-1G>A p.(Glu167Ter) Not class Severe Heterozygous None SPLICE SITE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1545G>C c.499G>T_501G>A p.(Arg515Ser) p.(Glu167Ter) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.395C>T c.499G>T p.(Ser132Leu) p.(Glu167Ter) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Swanson 2015
c.412T>G c.499G>T p.(Tyr138Asp) p.(Glu167Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.2186delC c.808G>T p.(Ala729Glufs*3) p.(Glu270Ter) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.2458A>G c.1723G>T p.(Met820Val) p.(Glu575Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1525C>G c.1789G>A p.(Pro509Ala) p.(Glu597Lys) Not class Not class Heterozygous None MISSENSE MISSENSE Azize 2014
c.1166C>T c.2584G>A p.(Ala389Val) p.(Glu862Lys) Intermediate Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2281G>A c.2584G>A p.(Gly761Arg) p.(Glu862Lys) Not class Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1183T>C c.2629G>A p.(Phe395Leu) p.(Glu877Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1545G>C c.2899G>T p.(Arg515Ser) p.(Glu967Ter) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1285insCAAC c.513G>C p.(Leu429Profs*5) p.(Gly171Ala) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT None Coughlin 2017
c.2980G>A c.600delG p.(Gly994Arg) p.(Gly200fs_230) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Bravo-Alonso 2018
c.2186delC c.1262G>T p.(Ala729Glufs*3) p.(Gly421Val) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.1642C>g c.1406G>A p.(Leu548Val) p.(Gly469Asp) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2714T>G c.1666G>T p.(Val905Gly) p.(Gly556Ter) Intermediate Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Bravo-Alonso 2018
c.1545G>C c.2164G>A p.(Arg515Ser) p.(Gly722Arg) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2196T>A c.2182G>A p.(Asn732Lys) p.(Gly728Arg) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.466G>C c.2183G>A p.(Gly156Arg) p.(Gly728Glu) Intermediate Intermediate Heterozygous None MISSENSE MISSENSE Swanson 2015, Coughlin 2017
c.582_589del8 c.2183G>A p.(Ser195Glyfs*2) p.(Gly728Glu) Severe Intermediate Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.1545G>C c.2281G>A p.(Arg515Ser) p.(Gly761Arg) Severe No class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1633G>C c.2302G>A p.(Asp545His) p.(Gly761Arg) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1691G>T c.2281G>A p.(Ser564Ile) p.(Gly761Arg) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1691G>T c.2302G>A p.(Ser564Ile) p.(Gly761Arg) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.806C>T c.2287G>C p.(Thr269Met) p.(Gly763Arg) Mild Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
Del exons 1 - 2 c.2297G>T Del exons 1 - 2 p.(Gly766Val) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
Del exons 1-2 c.2311G>A Del exons 1-2 p.(Gly771Arg) Severe Intermediate Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.2316-1G>A c.2311G>A IVS19-1G>A p.(Gly771Arg) Not class Intermediate Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.1055C>G c.2311G>A p.(Thr352Arg) p.(Gly771Arg) Not class Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2481_2484delACAA c.2416G>C p.(Gln828Profs*7) p.(Gly806Arg) Severe Intermediate Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.1382G>A c.2578G>C p.(Arg461Gln) p.(Gly860Arg) Intermediate Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.911C>T c.2578G>C p.(Pro304Leu) p.(Gly860Arg) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.861+1G>T c.2152_2154del3insTCCTGGTTTA IVS6+1G>T p.(His718fs*12) Not class Severe Heterozygous None SPLICE SITE TRUNCATION/FRAMESHIFT Coughlin 2017
c.2524A>T c.2279A>G p.(Lys842Ter) p.(His760Arg) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.605C>T c.2280C>G p.(Ala202Val) p.(His760Gln) Intermediate Not class Heterozygous None MISSENSE MISSENSE Azize 2014
c.847G>C c.2279A>C p.(Ala283Pro) p.(His760Pro) Intermediate Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1009C>T c.2324A>G p.(Arg337Ter) p.(His775Arg) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.2311G>A c.2324A>C p.(Gly771Arg) p.(His775Pro) Intermediate Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2720_2775del56 c.2849A>G p.(Pro907Hisfs*7) p.(His950Arg) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.1175delC c.1319T>A p.(Ala392Valfs*25) p.(Ile440Asn) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.1580+2T>G c.1886T>C IVS12+2T>G p.(Ile629Thr) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.1270C>T c.2427_2428insGTTC p.(Arg424Ter) p.(Ile810Valfs*19) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c1580delGinsCAA c.2770_2774del p.(Ser527Thr) p.(Ile924Hisfs*7) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Kuseyri Hübschmann 2022
c.2838+5G>T c.527delT IVS23+5G>T p.(Leu176Tyrfs*55) Not class Severe Heterozygous None SPLICE SITE TRUNCATION/FRAMESHIFT Coughlin 2017
c.512G>C c.1285_1286insCAAA p.(Gly171Ala) p.(Leu429fs) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Conter 2006
Del exons 1-25 c.1642C>G Del exons 1-25 p.(Leu548Val) Severe Severe Heterozygous None EXON DELETION MISSENSE Coughlin 2017
Del exon 18 c.1664T>G Del exon 18 p.(Leu555Arg) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.2408C>T c.236T>C p.(Ala803Val) p.(Leu79Pro) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.395C>T c.1317G>T p.(Ser132Leu) p.(Lys439Asn) Severe Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2665+1G>C c.2317A>T IVS22+1G>C p.(Lys773Ter) Not class Severe Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.2416G>C c.2481_2484delACAA p.(Gly806Arg) p.(Lys827Lysfs*7) Intermediate Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Swanson 2015
c.2311G>A c.1654A>G p.(Gly771Arg) p.(Met552Val) Intermediate Not class Heterozygous None MISSENSE MISSENSE Meyer 2010
c.1166C>T c.2086delA p.(Ala389Val) p.(Met696Ter) Intermediate Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1009C>T c.2841G>A p.(Arg337Ter) p.(Met947Ile) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.2838+1G>A c.1183T>C IVS23+1G>A p.(Phe395Leu) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
Del exons 22-25 c.2755T>A Del exons 22-25 p.(Phe919Ile) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.404G>A c.2267_2269delTCT p.(Gly135Ala) p.(Phedel756) Not class Severe Heterozygous None MISSENSE DELETION Coughlin 2017
c.605C>T c.911C>T p.(Ala202Val) p.(Pro304Leu) Intermediate Severe Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2196T>A c.911C>T p.(Asn732Lys) p.(Pro304Leu) Not class Severe Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2614A>T c.911C>T p.(Lys872Ter) p.(Pro304Leu) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.492C>G c.209C>G p.(Tyr164Ter) p.(Pro70Arg) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.1444delG c.2305C>A p.(Ala482Thrfs*57) p.(Pro769Thr) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.2315+1G>T c.2678C>T IVS19+1G>T p.(Pro893Leu) Not class Severe Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.2311G>A c.2720C>T p.(Gly771Arg) p.(Pro907Leu) Intermediate Intermediate Heterozygous None MISSENSE MISSENSE Beijer 2012
c.3006C>G c.1256C>G p.(Cys1002Trp) p.(Ser419Ter) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Jiang 2017
c.2798T>C c.1256C>G p.(Ile933Thr) p.(Ser419Ter) Mild Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.1545G>C c.1411T>C p.(Arg515Ser) p.(Ser471Pro) Not class Severe Heterozygous None MISSENSE MISSENSE Coughlin 2017
Del exons 1-3 c.1652G>T Del exons 1-3 p.(Ser551Ile) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.1545G>C c.1652G>T p.(Arg515Ser) p.(Ser551Ile) Severe Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
Del exons 1-8 c.1691G>T Del exons 1-8 p.(Ser564Ile) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.2919+1G>A c.1691G>T IVS24+1G>A p.(Ser564Ile) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.2302G>A c.1691G>T p.(Gly761Arg) p.(Ser564Ile) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2019T>A c.1691G>T p.(Tyr673Ter) p.(Ser564Ile) Severe Not class Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
Del exon 1-2 c.1970G>A Del exon 1-2 p.(Ser657Asn) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.2521G>C c.2422delA p.(Ala841Pro) p.(Ser808fs) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Conter 2006
c.395C>T c.256-?_334þ?del p.(Ser132Leu) p.(Ser86Valfs_119) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Kava 2018
c.2311G>A c.2729C>T p.(Gly771Arg) p.(Ser910Leu) Intermediate Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
Del exon 1 c.2852C>A Del exon 1 p.(Ser951Tyr) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.1117C>T c.482A>G p.(Arg373Trp) p.(Thr161Cys) Intermediate Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
Del exons 1-15 c.806C>T Del exons 1-15 p.(Thr269Met) Severe Mild Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.457G>T c.806C>T p.(Glu153Ter) p.(Thr269Met) Severe Mild Heterozygous None TRUNCATION/FRAMESHIFT MISSENSE Coughlin 2017
c.886C>T c.1055C>G p.(Leu296Phe) p.(Thr352Arg) Not class Not class Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1580+2T>G c.1054delA IVS12+2G>A p.(Thr352Glnfs*65) Not class Severe Heterozygous None SPLICE SITE TRUNCATION/FRAMESHIFT Coughlin 2017
c.2182G>A c.1054delA p.(Gly728Arg) p.(Thr352Glnfs*65) Not class Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Coughlin 2017
c.395C>T c.1310C>T p.(Ser132Leu) p.(Thr437Ile) Severe Severe Heterozygous None MISSENSE MISSENSE Swanson 2015
c.2919+1G>A c.1868A>G IVS24+1G>A p.(Thr623Cys) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
c.2654T>C c.2691G>T p.(Leu885Pro) p.(Trp897Cys) Intermediate Not class Heterozygous None MISSENSE MISSENSE Tsuyusaki 2012
c.470+1G>C c.2880G>C IVS3+1G>C p.(Trp960Cys) Not class Not class Heterozygous None SPLICE SITE MISSENSE Coughlin 2017
Del exons 17-21 c.535T>A Del exons 17-21 p.(Tyr179Asn) Severe Not class Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.1888C>T c.1611C>A p.(Arg630Ter) p.(Tyr537Ter) Severe Severe Heterozygous None TRUNCATION/FRAMESHIFT TRUNCATION/FRAMESHIFT Coughlin 2017
c.245T>G c.1821_1831del p.(Leu82Trp) p.(Tyr608Leufs*61) Mild Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Dinopoulos 2005
c.2281G>C c.1869T>G p.(Gly761Arg) p.(Tyr632Ter) Severe Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Swanson 2015
c.2654T>C c.2019T>A p.(Leu885Pro) p.(Tyr637Ter) Intermediate Severe Heterozygous None MISSENSE TRUNCATION/FRAMESHIFT Swanson 2015
c.2203-2A>G c.547delG IVS18-2A>G p.(Val183Cysfs*48) Not class Severe Heterozygous None SPLICE SITE TRUNCATION/FRAMESHIFT Coughlin 2017
Del exons 1-2 c.2714T>C Del exons 1-2 p.(Val905Gly) Severe Intermediate Heterozygous None EXON DELETION MISSENSE Coughlin 2017
Del exons 4-8 c.2714T>G Del exons 4-8 p.(Val905Gly) Severe Intermediate Heterozygous None EXON DELETION MISSENSE Coughlin 2017
c.499G>T c.2714T>G p.(Gly167Lys) p.(Val905Gly) Not class Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.1264C>A c.2714T>G p.(Leu422Ile) p.(Val905Gly) Not class Intermediate Heterozygous None MISSENSE MISSENSE Coughlin 2017
c.2516A>G c.2457+2T>A p.(Tyr839Cys) splice Not class Severe Heterozygous None MISSENSE SPLICE SITE Liu 2017
Del exons 1-25 c.1000T>C Del exons 1-25 None Severe Intermediate Heterozygous None EXON DELETION None Coughlin 2017
c.1382G>A del GLDC p.(Arg461Gln) None Intermediate Severe Heterozygous None MISSENSE None Suzuki 2010
c.2196T>A c.2838+5G>A p.(Asn732Lys) None Not class Not class Heterozygous None MISSENSE None Coughlin 2017
c.2303G>A c.(?_‐1)_(1707+1_1708‐1)del p.(Gly768Glu) None Severe Severe Heterozygous None MISSENSE None Bravo-Alonso 2018
c.1111C>G delGLDC p.(His371Asp) None Not class Severe Heterozygous None MISSENSE None Chang 2008
c.1738C>T c.(?_‐1)_(470+1_471‐1) p.(His580Tyr) None Severe Severe Heterozygous None MISSENSE None Bravo-Alonso 2018











GLDC SCORE CALCULATOR