Genetic Varianta Protein Variantb Variant type Biallelicc Monoallelicd Described
>1 patient
Functional
studiese
Bibliographyf ACMG Classificationg ClinVar ExAC PolyPhen-2 Details
c.32G>C p.Arg11Pro missense - Yes - -     Uncertain
significance
Uncertain
significance
1.4·10-04 Probably
damaging
c.71G>A p.Arg24His missense - Yes - -     Uncertain
significance
Uncertain
significance
5.9·10-05 Probably
damaging
c.115dup p.Glu39Glyfs*33 frameshift - Yes - - * Pathogenic
c.117+525G>T Unknown deep-intronic Yes - - Yes     Uncertain
significance
c.117+59C>T Unknown deep-intronic Yes - - -     Benign
c.118-307G>A Unknown deep-intronic Yes - Yes Yes     Likely
pathogenic
c.118-308C>T Unknown deep-intronic Yes - Yes Yes * Likely
pathogenic
Pathogenic
c.169G>T p.Glu57* nonsense - Yes - -     Pathogenic
c.175G>A p.Ala59Thr missense Yes - Yes -     Benign Benign 1.6·10-02 Benign
c.175G>C p.Ala59Pro missense Yes - - -     Uncertain
significance
8.4·10-06 Possibly
damaging
c.177_178del p.Tyr61Hisfs*10 frameshift Yes - - - * Pathogenic
c.182A>G p.Tyr61Cys missense - Yes Yes -     Uncertain
significance
Probably
damaging
c.196C>T p.Arg66Cys missense - Yes - - * Uncertain
significance
Probably
damaging
c.214del p.Asn73Thrfs*3 frameshift Yes - Yes Yes * Pathogenic
c.227C>T p.Thr76Met missense - Yes - -     Likely
benign
Conflicting
interpretations
pathogenicity
5.0·10-04 Possibly
damaging
c.247C>T p.Arg83* nonsense Yes - Yes -     Pathogenic Likely
pathogenic
c.292C>T p.Gln98* nonsense - Yes - -     Pathogenic
c.297_298del p.Leu100Alafs*7 frameshift Yes - - - * Pathogenic
c.299T>C p.Leu100Pro missense - Yes - -     Uncertain
significance
Probably
damaging
c.322-1G>A Unknown splicing Yes - Yes Yes     Pathogenic
c.388+5G>A Unknown splicing Yes - - Yes     Uncertain
significance
c.403_404insC p.Tyr135Serfs*7 frameshift Yes - - Yes * Pathogenic
c.407G>A p.Cys136Tyr missense Yes - - Yes     Uncertain
significance
Probably
damaging
c.419T>C p.Ile140Thr missense Yes - - -     Uncertain
significance
Probably
damaging
c.441del p.Gly149Alafs*13 frameshift Yes - Yes Yes * Pathogenic
c.460C>T p.Arg154Trp missense - Yes - -     Uncertain
significance
1.1·10-04 Probably
damaging
c.478G>A p.Val160Met missense - Yes Yes -     Uncertain
significance
Probably
damaging
c.518C>T p.Thr173Met missense - Yes - -     Uncertain
significance
Uncertain
significance
1.7·10-05 Probably
damaging
c.532del p.Gln178Argfs*71 frameshift Yes - Yes - * Pathogenic
c.544C>T p.Pro182Ser missense Yes - - Yes     Likely
pathogenic
Probably
damaging
c.551G>A p.Trp184* nonsense Yes - Yes -     Pathogenic 1.7·10-05
c.569+5G>A Unknown splicing Yes - Yes Yes     Uncertain
significance
8.5·10-06
c.570_1055dup Unknown large
rearrangement
Yes - - Yes * Pathogenic
c.570-1G>A Unknown splicing - Yes - -     Pathogenic
c.570-2A>T Unknown splicing Yes - - -     Pathogenic
c.602A>G p.His201Arg missense - Yes Yes -     Uncertain
significance
5.8·10-05 Probably
damaging
c.604C>A p.Leu202Met missense - Yes - -     Uncertain
significance
8.2·10-06 Possibly
damaging
c.610A>G p.Met204Val missense Yes - - Yes     Uncertain
significance
Uncertain
significance
5.8·10-04 Benign
c.627del p.Val210Trpfs*39 frameshift Yes - Yes - * Pathogenic
c.640C>T p.Arg214* nonsense Yes Yes Yes -     Pathogenic 8.2·10-06
c.684-1G>A Unknown splicing Yes - - -     Pathogenic
c.751C>T p.Gln251* nonsense Yes - - -     Pathogenic
c.753+1G>T Unknown splicing Yes - Yes -     Pathogenic Pathogenic 4.1·10-05
c.753+3G>A Unknown splicing - Yes Yes -     Benign Benign /
Likely
benign
2.6·10-03
c.754-1G>C Unknown splicing Yes Yes Yes Yes     Pathogenic 1.7·10-05
c.754-2A>G Unknown splicing Yes - - -     Pathogenic
c.756_757insAC p.Leu253Thrfs*76 frameshift Yes - - - * Pathogenic
c.762del p.Cys255Alafs*73 frameshift Yes - - - * Pathogenic
c.766C>T p.Arg256* nonsense Yes - Yes -     Pathogenic Pathogenic 3.4·10-05
c.817C>T p.Arg273* nonsense Yes - Yes -     Pathogenic 2.5·10-05
c.823C>T p.Gln275* nonsense Yes - - -     Pathogenic
c.847A>G p.Ile283Val missense Yes - - -     Benign Benign 2.5·10-03 Benign
c.856_857insG p.Arg287Glufs*174 frameshift Yes - - - * Pathogenic
c.859-1G>C Unknown splicing Yes - - -     Pathogenic
c.859-3C>A Unknown splicing Yes - Yes -     Uncertain
significance
8.8·10-06
c.859-3C>T Unknown splicing - Yes - -     Uncertain
significance
5.3·10-05
c.869C>T p.Ser290Leu missense - Yes - -     Uncertain
significance
7.9·10-05 Benign
c.952-1G>A Unknown splicing Yes - - Yes     Pathogenic 8.4·10-06
c.965_968delins68 p.Ser322Ilefs*96 frameshift Yes - - -     -
c.990G>C p.Gln330His missense Yes - - -     Uncertain
significance
Benign
c.1036G>A p.Asp346Asn missense - Yes - -     Uncertain
significance
Probably
damaging
c.1055+1G>A Unknown splicing Yes - Yes -     Pathogenic 8.3·10-06
c.1061G>T p.Trp354Leu missense Yes - Yes -     Uncertain
significance
Benign
c.1090del p.Leu364Trpfs*40 frameshift Yes - - - * Pathogenic
c.1120C>A p.Pro374Thr missense - Yes Yes -     Uncertain
significance
Benign
c.1145G>A p.Trp382* nonsense Yes - Yes Yes     Pathogenic
c.1148_1149insGG p.Ile383Metfs*22 frameshift Yes - - - * Pathogenic
c.1174-3C>G Unknown splicing - Yes - -     Uncertain
significance
5.8·10-05
c.1193C>T p.Ser398Leu missense Yes - - -     Uncertain
significance
8.3·10-06 Probably
damaging
c.1201T>A p.Ser401Thr missense Yes - - -     Uncertain
significance
1.7·10-05 Benign
c.1202C>A p.Ser401Tyr missense Yes - - -     Uncertain
significance
1.7·10-05 Possibly
damaging
c.1208T>C p.Leu403Pro missense Yes - Yes -     Uncertain
significance
Pathogenic Probably
damaging
c.1215C>G p.Tyr405* nonsense Yes - - -     Pathogenic
c.1225del p.Leu409Serfs*33 frameshift Yes - Yes - * Pathogenic
c.1228A>C p.Ile410Leu missense - - - -     Benign Conflicting
interpretations
pathogenicity
1.0·10-03 Benign
c.1232G>A p.Arg411Gln missense - Yes Yes -     Uncertain
significance
5.9·10-04 Possibly
damaging
c.1240C>T p.Arg414Cys missense Yes - Yes Yes     Uncertain
significance
Uncertain
significance
8.3·10-06 Probably
damaging
c.1241G>T p.Arg414Leu missense Yes - Yes Yes     Uncertain
significance
8.3·10-06 Possibly
damaging
c.1280G>A p.Arg427Gln missense - Yes - -     Uncertain
significance
8.3·10-05 Probably
damaging
c.1299+1G>A Unknown splicing Yes - - -     Pathogenic
c.1369C>A p.Leu457Met missense Yes - - -     Likely
benign
1.7·10-05 Benign
c.1387C>T p.Gln463* nonsense Yes - Yes -     Pathogenic
c.1388A>C p.Gln463Pro missense Yes - Yes Yes     Uncertain
significance
Benign
c.1389+1G>A Unknown splicing Yes - Yes -     Pathogenic Pathogenic 5.1·10-05
c.1389G>T p.Gln463His missense - Yes - -     Uncertain
significance
Benign
c.1454C>T p.Pro485Leu missense - Yes - -     Likely
benign
1.7·10-05 Benign
c.1545-1G>T Unknown splicing Yes - - -     Pathogenic
c.1545-2A>G Unknown splicing Yes - - -     Pathogenic
c.1579C>T p.Arg527Trp missense - Yes - -     Likely
benign
Benign /
Likely
benign
5.2·10-03 Possibly
damaging
c.1596+1del Unknown splicing - - - - * Pathogenic
c.1596+1G>C Unknown splicing Yes - Yes Yes     Pathogenic
c.1607G>T p.Arg536Leu missense - Yes Yes -     Uncertain
significance
Uncertain
significance
8.3·10-06 Benign
c.1693del p.Glu565Serfs*7 frameshift Yes - - - * Pathogenic
c.1723_1724insA p.Arg576Glufs*9 frameshift Yes - - - * Pathogenic
c.1755_1756insT p.His586Serfs*31 frameshift - Yes - Yes * Pathogenic
c.1760G>A p.Arg587His missense - Yes - -     Uncertain
significance
9.7·10-05 Benign
c.1787G>T p.Trp596Leu missense - Yes - -     Uncertain
significance
Probably
damaging
c.1799C>T p.Thr600Met missense Yes - - -     Uncertain
significance
9.3·10-06 Possibly
damaging
c.1803C>A p.Tyr601* nonsense Yes - - Yes     Pathogenic
c.1807G>T p.Glu603* nonsense - - - -     Pathogenic 1.8·10-05
c.1820G>C p.Arg607Pro missense Yes - - Yes     Uncertain
significance
Uncertain
significance
1.1·10-04 Probably
damaging
c.1822_1833del p.Val608_Ala611del in-frame
deletion
Yes - Yes Yes * Likely
pathogenic
c.1825C>T p.Gln609* nonsense Yes - - -     Pathogenic
c.1828_1829insA p.Arg610Glnfs*7 frameshift - - - - * Pathogenic
c.1845_1847dup p.Asp615dup duplication Yes - - - * Uncertain
significance
c.1847A>G p.Glu616Gly missense Yes - Yes -     Likely
benign
Pathogenic Benign
c.1848+1G>C Unknown splicing Yes - - -     Pathogenic
c.1940T>C p.Leu647Pro missense Yes - - Yes     Uncertain
significance
Probably
damaging
c.1978_1979insATTACCG p.Val660Aspfs*47 frameshift Yes - - - * Pathogenic
c.1982A>G p.Lys661Arg missense - Yes - -     Uncertain
significance
Probably
damaging
c.1992+1G>C Unknown splicing - Yes - -     Pathogenic
c.1993-2A>G Unknown splicing Yes - - -     Pathogenic
c.2030T>C p.Ile677Thr missense - Yes - -     Uncertain
significance
1.7·10-05 Possibly
damaging
c.2037_2038insG p.Arg680Alafs*25 frameshift Yes - - - * Pathogenic
c.2039G>C p.Arg680Pro missense Yes - - -     Uncertain
significance
Probably
damaging
c.2057C>A p.Ser686* nonsense Yes - - Yes     Pathogenic
c.2077C>T p.Gln693* nonsense Yes - - - * Pathogenic
c.2135_2137del p.Ile712_Gly713delinsSer deletion-insertion - Yes - -     Uncertain
significance
c.2163G>A p.Trp721* nonsense Yes - - Yes     Pathogenic
c.2174A>G p.Glu725Gly missense - Yes - -     Uncertain
significance
Uncertain
significance
3.3·10-05 Probably
damaging
c.2176C>T p.Gln726* nonsense Yes - - Yes     Pathogenic
c.2180G>A p.Arg727Gln missense Yes - - -     Likely
benign
Uncertain
significance
6.4·10-04 Possibly
damaging
c.2191G>A p.Val731Met missense - Yes - -     Uncertain
significance
Uncertain
significance
2.3·10-04 Probably
damaging
c.2206C>T p.Gln736* nonsense Yes - - -     Pathogenic
c.2212C>T p.Gln738* nonsense - Yes Yes -     Pathogenic 4.1·10-05
c.2216_2239del p.Asn739_Gln746del in-frame
deletion
- - - - * Uncertain
significance
c.2236C>T p.Gln746* nonsense - Yes - Yes     Pathogenic
c.2240G>A p.Ser747Asn missense Yes - Yes -     Uncertain
significance
4.5·10-05 Benign
c.2243C>T p.Ala748Val missense - Yes - -     Uncertain
significance
Uncertain
significance
1.2·10-04 Possibly
damaging
c.2258_2267delins12 p.Gly753fs*795 frameshift Yes - Yes -     -
c.2258_2298del p.Gly753Valfs*22 frameshift - - - - * Pathogenic
c.2295_2298del p.Glu765Aspfs*29 frameshift Yes - - Yes * Pathogenic
c.2295G>T p.Glu765Asp missense - Yes - - * Uncertain
significance
Benign
c.2296C>T p.Gln766* nonsense Yes - - -     Pathogenic
c.2346_2349del p.Arg782Serfs*12 frameshift Yes - Yes - * Pathogenic
c.2367+1G>A Unknown splicing Yes - - -     Pathogenic
c.2368-2A>G Unknown splicing - Yes - Yes     Pathogenic
c.2381del p.Leu794Argfs*2 frameshift Yes - - - * Pathogenic
c.2436_2437insTTGA p.Asn813Leufs*49 frameshift Yes - - - * Pathogenic
c.2437_2439delinsT p.Asn813Phefs*47 frameshift Yes - - - * Pathogenic
c.2447+61_2447+150del Unknown deep-intronic Yes - - - * Uncertain
significance
c.2448-13G>A Unknown splicing Yes - - Yes     Likely
pathogenic
c.2459T>G p.Leu820Arg missense Yes - - Yes * Uncertain
significance
Probably
damaging
c.2473A>C p.Thr825Pro missense Yes - - -     Uncertain
significance
Probably
damaging
c.2477_2480del p.Leu826Glnfs*20 frameshift Yes - - - * Pathogenic
c.2485del p.Leu829Trpfs*18 frameshift Yes - - Yes * Pathogenic
c.2495C>T p.Ala832Val missense - Yes - -     Likely
benign
3.4·10-05 Benign
c.2544del p.Ile848Metfs*67 frameshift Yes - - - * Pathogenic
c.2553+5C>G Unknown splicing Yes Yes Yes -     Likely
benign
Benign 8.3·10-04
c.2553+5C>T Unknown splicing - Yes - -     Uncertain
significance
c.2570T>G p.Phe857Cys missense - - - -     Uncertain
significance
Pathogenic Probably
damaging
c.2575G>A p.Ala859Thr missense Yes - - -     Uncertain
significance
2.5·10-05 Probably
damaging
c.2588G>A p.Gly863Asp missense - Yes Yes -     Uncertain
significance
Uncertain
significance
3.6·10-04 Probably
damaging
c.2599A>G p.Lys867Glu missense Yes - - -     Benign Benign 3.7·10-01 Benign
c.2626-1G>A Unknown splicing Yes - Yes Yes     Pathogenic
c.2642T>C p.Leu881Pro missense Yes - Yes -     Uncertain
significance
Probably
damaging
c.2650C>T p.Gln884* nonsense Yes - - Yes     Pathogenic
c.2672T>C p.Leu891Pro missense Yes - - -     Uncertain
significance
Probably
damaging
c.2695C>T p.Arg899* nonsense Yes - Yes Yes     Pathogenic Pathogenic 4.2·10-05
c.2709+1G>A Unknown splicing Yes - Yes -     Pathogenic Likely
pathogenic
c.2709+2T>A Unknown splicing Yes - - Yes     Pathogenic
c.2709+6G>T Unknown splicing - Yes - -     Uncertain
significance
6.6·10-04
c.2719_2722dup p.Ser908Tyrfs*3 frameshift - Yes - - * Pathogenic
c.2753C>A p.Ala918Asp missense Yes - - Yes     Uncertain
significance
Probably
damaging
c.2782C>T p.Arg928Cys missense Yes - Yes -     Benign Benign /
Likely
benign
3.0·10-02 Benign
c.2783G>C p.Arg928Pro missense Yes - Yes -     Likely
benign
Possibly
damaging
c.2828A>G p.Asn943Ser missense - Yes - -     Likely
benign
Likely
benign
1.1·10-03 Possibly
damaging
c.2831-13G>A Unknown splicing Yes - Yes -     Uncertain
significance
c.2896C>T p.Arg966Trp missense - Yes Yes -     Likely
benign
Conflicting
interpretations
pathogenicity
9.6·10-03 Probably
damaging
c.2954+5G>A Unknown splicing Yes - - -     Uncertain
significance
c.2955-2A>G Unknown splicing Yes - - -     Pathogenic
c.2955-4G>A Unknown splicing - Yes - -     Uncertain
significance
9.8·10-06
c.2986G>A p.Gly996Arg missense - Yes - -     Uncertain
significance
Probably
damaging
c.2988_3013del p.Ala997Leufs*19 frameshift Yes - - - * Pathogenic
c.2999T>C p.Leu1000Pro missense Yes - - -     Uncertain
significance
Probably
damaging
c.3037dup p.Asp1013Glyfs*12 frameshift - - - - * Pathogenic
c.3049G>A p.Glu1017Lys missense Yes - Yes -     Uncertain
significance
Probably
damaging
c.3067C>T p.Arg1023Cys missense - Yes Yes -     Likely
benign
2.9·10-04 Benign
c.3082del p.Leu1028* nonsense Yes - - Yes * Pathogenic
c.3131T>G p.Leu1044Arg missense Yes - - -     Uncertain
significance
Probably
damaging
c.3134C>T p.Thr1045Met missense - Yes - -     Likely
benign
Uncertain
significance
Possibly
damaging
c.3151+431del Unknown deep-intronic Yes - - Yes * Uncertain
significance
c.3160A>G p.Ile1054Val missense - Yes - -     Likely
benign
Uncertain
significance
6.3·10-04 Benign
c.3173T>C p.Leu1058Pro missense Yes - - -     Uncertain
significance
Uncertain
significance
Probably
damaging
c.3193C>T p.Arg1065* nonsense Yes - Yes -     Pathogenic 2.7·10-05
c.3226_3227insG p.His1076Argfs*263 frameshift Yes - - Yes * Pathogenic
c.3229_3235del p.Arg1077Serfs*48 frameshift - Yes - - * Uncertain
significance
c.3229C>T p.Arg1077Trp missense - Yes - -     Uncertain
significance
5.2·10-05 Probably
damaging
c.3232G>C p.Ala1078Pro missense - Yes - -     Uncertain
significance
1.7·10-05 Probably
damaging
c.3259C>T p.Arg1087Trp missense - Yes Yes -     Likely
benign
1.4·10-04 Benign
g.(73825638_73825663)
_(73573065_73573090)inv
Unknown large
rearrangement
Yes - Yes Yes * Pathogenic
Genetic Varianta Protein Variantb Variant type Biallelicc Monoallelicd Described
>1 patient
Functional
studiese
Bibliographyf ACMG Classificationg Details
c.32G>C p.Arg11Pro missense - Yes - -     Uncertain
significance
c.71G>A p.Arg24His missense - Yes - -     Uncertain
significance
c.115dup p.Glu39Glyfs*33 frameshift - Yes - - * Pathogenic
c.117+525G>T Unknown deep-intronic Yes - - Yes     Uncertain
significance
c.117+59C>T Unknown deep-intronic Yes - - -     Benign
c.118-307G>A Unknown deep-intronic Yes - Yes Yes     Likely
pathogenic
c.118-308C>T Unknown deep-intronic Yes - Yes Yes * Likely
pathogenic
c.169G>T p.Glu57* nonsense - Yes - -     Pathogenic
c.175G>A p.Ala59Thr missense Yes - Yes -     Benign
c.175G>C p.Ala59Pro missense Yes - - -     Uncertain
significance
c.177_178del p.Tyr61Hisfs*10 frameshift Yes - - - * Pathogenic
c.182A>G p.Tyr61Cys missense - Yes Yes -     Uncertain
significance
c.196C>T p.Arg66Cys missense - Yes - - * Uncertain
significance
c.214del p.Asn73Thrfs*3 frameshift Yes - Yes Yes * Pathogenic
c.227C>T p.Thr76Met missense - Yes - -     Likely
benign
c.247C>T p.Arg83* nonsense Yes - Yes -     Pathogenic
c.292C>T p.Gln98* nonsense - Yes - -     Pathogenic
c.297_298del p.Leu100Alafs*7 frameshift Yes - - - * Pathogenic
c.299T>C p.Leu100Pro missense - Yes - -     Uncertain
significance
c.322-1G>A Unknown splicing Yes - Yes Yes     Pathogenic
c.388+5G>A Unknown splicing Yes - - Yes     Uncertain
significance
c.403_404insC p.Tyr135Serfs*7 frameshift Yes - - Yes * Pathogenic
c.407G>A p.Cys136Tyr missense Yes - - Yes     Uncertain
significance
c.419T>C p.Ile140Thr missense Yes - - -     Uncertain
significance
c.441del p.Gly149Alafs*13 frameshift Yes - Yes Yes * Pathogenic
c.460C>T p.Arg154Trp missense - Yes - -     Uncertain
significance
c.478G>A p.Val160Met missense - Yes Yes -     Uncertain
significance
c.518C>T p.Thr173Met missense - Yes - -     Uncertain
significance
c.532del p.Gln178Argfs*71 frameshift Yes - Yes - * Pathogenic
c.544C>T p.Pro182Ser missense Yes - - Yes     Likely
pathogenic
c.551G>A p.Trp184* nonsense Yes - Yes -     Pathogenic
c.569+5G>A Unknown splicing Yes - Yes Yes     Uncertain
significance
c.570_1055dup Unknown large
rearrangement
Yes - - Yes * Pathogenic
c.570-1G>A Unknown splicing - Yes - -     Pathogenic
c.570-2A>T Unknown splicing Yes - - -     Pathogenic
c.602A>G p.His201Arg missense - Yes Yes -     Uncertain
significance
c.604C>A p.Leu202Met missense - Yes - -     Uncertain
significance
c.610A>G p.Met204Val missense Yes - - Yes     Uncertain
significance
c.627del p.Val210Trpfs*39 frameshift Yes - Yes - * Pathogenic
c.640C>T p.Arg214* nonsense Yes Yes Yes -     Pathogenic
c.684-1G>A Unknown splicing Yes - - -     Pathogenic
c.751C>T p.Gln251* nonsense Yes - - -     Pathogenic
c.753+1G>T Unknown splicing Yes - Yes -     Pathogenic
c.753+3G>A Unknown splicing - Yes Yes -     Benign
c.754-1G>C Unknown splicing Yes Yes Yes Yes     Pathogenic
c.754-2A>G Unknown splicing Yes - - -     Pathogenic
c.756_757insAC p.Leu253Thrfs*76 frameshift Yes - - - * Pathogenic
c.762del p.Cys255Alafs*73 frameshift Yes - - - * Pathogenic
c.766C>T p.Arg256* nonsense Yes - Yes -     Pathogenic
c.817C>T p.Arg273* nonsense Yes - Yes -     Pathogenic
c.823C>T p.Gln275* nonsense Yes - - -     Pathogenic
c.847A>G p.Ile283Val missense Yes - - -     Benign
c.856_857insG p.Arg287Glufs*174 frameshift Yes - - - * Pathogenic
c.859-1G>C Unknown splicing Yes - - -     Pathogenic
c.859-3C>A Unknown splicing Yes - Yes -     Uncertain
significance
c.859-3C>T Unknown splicing - Yes - -     Uncertain
significance
c.869C>T p.Ser290Leu missense - Yes - -     Uncertain
significance
c.952-1G>A Unknown splicing Yes - - Yes     Pathogenic
c.965_968delins68 p.Ser322Ilefs*96 frameshift Yes - - -     -
c.990G>C p.Gln330His missense Yes - - -     Uncertain
significance
c.1036G>A p.Asp346Asn missense - Yes - -     Uncertain
significance
c.1055+1G>A Unknown splicing Yes - Yes -     Pathogenic
c.1061G>T p.Trp354Leu missense Yes - Yes -     Uncertain
significance
c.1090del p.Leu364Trpfs*40 frameshift Yes - - - * Pathogenic
c.1120C>A p.Pro374Thr missense - Yes Yes -     Uncertain
significance
c.1145G>A p.Trp382* nonsense Yes - Yes Yes     Pathogenic
c.1148_1149insGG p.Ile383Metfs*22 frameshift Yes - - - * Pathogenic
c.1174-3C>G Unknown splicing - Yes - -     Uncertain
significance
c.1193C>T p.Ser398Leu missense Yes - - -     Uncertain
significance
c.1201T>A p.Ser401Thr missense Yes - - -     Uncertain
significance
c.1202C>A p.Ser401Tyr missense Yes - - -     Uncertain
significance
c.1208T>C p.Leu403Pro missense Yes - Yes -     Uncertain
significance
c.1215C>G p.Tyr405* nonsense Yes - - -     Pathogenic
c.1225del p.Leu409Serfs*33 frameshift Yes - Yes - * Pathogenic
c.1228A>C p.Ile410Leu missense - - - -     Benign
c.1232G>A p.Arg411Gln missense - Yes Yes -     Uncertain
significance
c.1240C>T p.Arg414Cys missense Yes - Yes Yes     Uncertain
significance
c.1241G>T p.Arg414Leu missense Yes - Yes Yes     Uncertain
significance
c.1280G>A p.Arg427Gln missense - Yes - -     Uncertain
significance
c.1299+1G>A Unknown splicing Yes - - -     Pathogenic
c.1369C>A p.Leu457Met missense Yes - - -     Likely
benign
c.1387C>T p.Gln463* nonsense Yes - Yes -     Pathogenic
c.1388A>C p.Gln463Pro missense Yes - Yes Yes     Uncertain
significance
c.1389+1G>A Unknown splicing Yes - Yes -     Pathogenic
c.1389G>T p.Gln463His missense - Yes - -     Uncertain
significance
c.1454C>T p.Pro485Leu missense - Yes - -     Likely
benign
c.1545-1G>T Unknown splicing Yes - - -     Pathogenic
c.1545-2A>G Unknown splicing Yes - - -     Pathogenic
c.1579C>T p.Arg527Trp missense - Yes - -     Likely
benign
c.1596+1del Unknown splicing - - - - * Pathogenic
c.1596+1G>C Unknown splicing Yes - Yes Yes     Pathogenic
c.1607G>T p.Arg536Leu missense - Yes Yes -     Uncertain
significance
c.1693del p.Glu565Serfs*7 frameshift Yes - - - * Pathogenic
c.1723_1724insA p.Arg576Glufs*9 frameshift Yes - - - * Pathogenic
c.1755_1756insT p.His586Serfs*31 frameshift - Yes - Yes * Pathogenic
c.1760G>A p.Arg587His missense - Yes - -     Uncertain
significance
c.1787G>T p.Trp596Leu missense - Yes - -     Uncertain
significance
c.1799C>T p.Thr600Met missense Yes - - -     Uncertain
significance
c.1803C>A p.Tyr601* nonsense Yes - - Yes     Pathogenic
c.1807G>T p.Glu603* nonsense - - - -     Pathogenic
c.1820G>C p.Arg607Pro missense Yes - - Yes     Uncertain
significance
c.1822_1833del p.Val608_Ala611del in-frame
deletion
Yes - Yes Yes * Likely
pathogenic
c.1825C>T p.Gln609* nonsense Yes - - -     Pathogenic
c.1828_1829insA p.Arg610Glnfs*7 frameshift - - - - * Pathogenic
c.1845_1847dup p.Asp615dup duplication Yes - - - * Uncertain
significance
c.1847A>G p.Glu616Gly missense Yes - Yes -     Likely
benign
c.1848+1G>C Unknown splicing Yes - - -     Pathogenic
c.1940T>C p.Leu647Pro missense Yes - - Yes     Uncertain
significance
c.1978_1979insATTACCG p.Val660Aspfs*47 frameshift Yes - - - * Pathogenic
c.1982A>G p.Lys661Arg missense - Yes - -     Uncertain
significance
c.1992+1G>C Unknown splicing - Yes - -     Pathogenic
c.1993-2A>G Unknown splicing Yes - - -     Pathogenic
c.2030T>C p.Ile677Thr missense - Yes - -     Uncertain
significance
c.2037_2038insG p.Arg680Alafs*25 frameshift Yes - - - * Pathogenic
c.2039G>C p.Arg680Pro missense Yes - - -     Uncertain
significance
c.2057C>A p.Ser686* nonsense Yes - - Yes     Pathogenic
c.2077C>T p.Gln693* nonsense Yes - - - * Pathogenic
c.2135_2137del p.Ile712_Gly713delinsSer deletion-insertion - Yes - -     Uncertain
significance
c.2163G>A p.Trp721* nonsense Yes - - Yes     Pathogenic
c.2174A>G p.Glu725Gly missense - Yes - -     Uncertain
significance
c.2176C>T p.Gln726* nonsense Yes - - Yes     Pathogenic
c.2180G>A p.Arg727Gln missense Yes - - -     Likely
benign
c.2191G>A p.Val731Met missense - Yes - -     Uncertain
significance
c.2206C>T p.Gln736* nonsense Yes - - -     Pathogenic
c.2212C>T p.Gln738* nonsense - Yes Yes -     Pathogenic
c.2216_2239del p.Asn739_Gln746del in-frame
deletion
- - - - * Uncertain
significance
c.2236C>T p.Gln746* nonsense - Yes - Yes     Pathogenic
c.2240G>A p.Ser747Asn missense Yes - Yes -     Uncertain
significance
c.2243C>T p.Ala748Val missense - Yes - -     Uncertain
significance
c.2258_2267delins12 p.Gly753fs*795 frameshift Yes - Yes -     -
c.2258_2298del p.Gly753Valfs*22 frameshift - - - - * Pathogenic
c.2295_2298del p.Glu765Aspfs*29 frameshift Yes - - Yes * Pathogenic
c.2295G>T p.Glu765Asp missense - Yes - - * Uncertain
significance
c.2296C>T p.Gln766* nonsense Yes - - -     Pathogenic
c.2346_2349del p.Arg782Serfs*12 frameshift Yes - Yes - * Pathogenic
c.2367+1G>A Unknown splicing Yes - - -     Pathogenic
c.2368-2A>G Unknown splicing - Yes - Yes     Pathogenic
c.2381del p.Leu794Argfs*2 frameshift Yes - - - * Pathogenic
c.2436_2437insTTGA p.Asn813Leufs*49 frameshift Yes - - - * Pathogenic
c.2437_2439delinsT p.Asn813Phefs*47 frameshift Yes - - - * Pathogenic
c.2447+61_2447+150del Unknown deep-intronic Yes - - - * Uncertain
significance
c.2448-13G>A Unknown splicing Yes - - Yes     Likely
pathogenic
c.2459T>G p.Leu820Arg missense Yes - - Yes * Uncertain
significance
c.2473A>C p.Thr825Pro missense Yes - - -     Uncertain
significance
c.2477_2480del p.Leu826Glnfs*20 frameshift Yes - - - * Pathogenic
c.2485del p.Leu829Trpfs*18 frameshift Yes - - Yes * Pathogenic
c.2495C>T p.Ala832Val missense - Yes - -     Likely
benign
c.2544del p.Ile848Metfs*67 frameshift Yes - - - * Pathogenic
c.2553+5C>G Unknown splicing Yes Yes Yes -     Likely
benign
c.2553+5C>T Unknown splicing - Yes - -     Uncertain
significance
c.2570T>G p.Phe857Cys missense - - - -     Uncertain
significance
c.2575G>A p.Ala859Thr missense Yes - - -     Uncertain
significance
c.2588G>A p.Gly863Asp missense - Yes Yes -     Uncertain
significance
c.2599A>G p.Lys867Glu missense Yes - - -     Benign
c.2626-1G>A Unknown splicing Yes - Yes Yes     Pathogenic
c.2642T>C p.Leu881Pro missense Yes - Yes -     Uncertain
significance
c.2650C>T p.Gln884* nonsense Yes - - Yes     Pathogenic
c.2672T>C p.Leu891Pro missense Yes - - -     Uncertain
significance
c.2695C>T p.Arg899* nonsense Yes - Yes Yes     Pathogenic
c.2709+1G>A Unknown splicing Yes - Yes -     Pathogenic
c.2709+2T>A Unknown splicing Yes - - Yes     Pathogenic
c.2709+6G>T Unknown splicing - Yes - -     Uncertain
significance
c.2719_2722dup p.Ser908Tyrfs*3 frameshift - Yes - - * Pathogenic
c.2753C>A p.Ala918Asp missense Yes - - Yes     Uncertain
significance
c.2782C>T p.Arg928Cys missense Yes - Yes -     Benign
c.2783G>C p.Arg928Pro missense Yes - Yes -     Likely
benign
c.2828A>G p.Asn943Ser missense - Yes - -     Likely
benign
c.2831-13G>A Unknown splicing Yes - Yes -     Uncertain
significance
c.2896C>T p.Arg966Trp missense - Yes Yes -     Likely
benign
c.2954+5G>A Unknown splicing Yes - - -     Uncertain
significance
c.2955-2A>G Unknown splicing Yes - - -     Pathogenic
c.2955-4G>A Unknown splicing - Yes - -     Uncertain
significance
c.2986G>A p.Gly996Arg missense - Yes - -     Uncertain
significance
c.2988_3013del p.Ala997Leufs*19 frameshift Yes - - - * Pathogenic
c.2999T>C p.Leu1000Pro missense Yes - - -     Uncertain
significance
c.3037dup p.Asp1013Glyfs*12 frameshift - - - - * Pathogenic
c.3049G>A p.Glu1017Lys missense Yes - Yes -     Uncertain
significance
c.3067C>T p.Arg1023Cys missense - Yes Yes -     Likely
benign
c.3082del p.Leu1028* nonsense Yes - - Yes * Pathogenic
c.3131T>G p.Leu1044Arg missense Yes - - -     Uncertain
significance
c.3134C>T p.Thr1045Met missense - Yes - -     Likely
benign
c.3151+431del Unknown deep-intronic Yes - - Yes * Uncertain
significance
c.3160A>G p.Ile1054Val missense - Yes - -     Likely
benign
c.3173T>C p.Leu1058Pro missense Yes - - -     Uncertain
significance
c.3193C>T p.Arg1065* nonsense Yes - Yes -     Pathogenic
c.3226_3227insG p.His1076Argfs*263 frameshift Yes - - Yes * Pathogenic
c.3229_3235del p.Arg1077Serfs*48 frameshift - Yes - - * Uncertain
significance
c.3229C>T p.Arg1077Trp missense - Yes - -     Uncertain
significance
c.3232G>C p.Ala1078Pro missense - Yes - -     Uncertain
significance
c.3259C>T p.Arg1087Trp missense - Yes Yes -     Likely
benign
g.(73825638_73825663)
_(73573065_73573090)inv
Unknown large
rearrangement
Yes - Yes Yes * Pathogenic

aThe coding DNA reference sequence of genetic variants (c.) is the CDS of ENST00000207549.8, which is equivalent to that of NM_199242.2.
The genomic reference sequence of genetic variants (g.) is the GRCh37 chromosome 17 which is equivalent to NC_000017.10.
bThe protein reference sequence used of protein variants (p.) is ENSP00000207549.3, which is equivalent to NP_954712.1.
cBiallelic variants include both homozygous and compound heterozygous variants.
dMonoallelic variants include variants found in one allele. Caution must be exercised in evaluating the role of monoallelic variants since FHL caused by mutations in UNC13D is essentially an autosomal recessive disease. Most monoallelic variants reported in FHL are not proven to be disease causing by itself but may represent susceptibility in genetic predisposition to FHL.
eFunctional studies mean that one or more assays (e.g. Western blot, RNA studies, flow cytometry, etc.) have been done to evaluate the functional impact of the variant.
fBibliography marked with "*" may contain the variant in a different format. Here, we show the variant following the HGVS guidelines.
gGenetic variants have been classified as pathogenic, likely pathogenic, uncertain significance, likely benign or benign, according to the American College of Medical Genetics (ACMG) guidelines.
- means no supporting information was found.

Disclaimer: The information on this database is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. The authors are not responsible for neither its use nor misuse. The authors have worked with care in the development of this server, but assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.