CDH23 — 5876 ClinVar variants

Pathogenic 290

• p.Arg2029Trp Expert panel nonsyndromic genetic hearing loss ⚠
• p.Glu956Lys Expert panel sensorineural hearing loss disorder
• p.Pro240Leu Expert panel nonsyndromic genetic hearing loss
• c.1291-1G>A Multiple submitters Usher syndrome type 1D
• c.2289+1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.288+1G>C Multiple submitters
• c.336+1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.6049+1G>A Multiple submitters Rare genetic deafness
• c.6050-9G>A Multiple submitters Rare genetic deafness
• c.7362+5G>A Multiple submitters Rare genetic deafness
• c.9077+1G>A Multiple submitters Usher syndrome type 2
• c.9319+1G>T Multiple submitters pituitary adenoma 5, multiple types
• c.945+1G>A Multiple submitters Usher syndrome type 1D
• c.945+1G>T Multiple submitters pituitary adenoma 5, multiple types
• p.Ala2685fs Multiple submitters pituitary adenoma 5, multiple types
• p.Arg1081Ter Multiple submitters Inborn genetic diseases
• p.Arg1161Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Arg1219Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Arg1437Ter Multiple submitters Monogenic hearing loss
• p.Arg1746Gln Multiple submitters CDH23-related disorder ⚠
• p.Arg2107Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Arg2935Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Arg736Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Gln1288Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Gln1496His Multiple submitters pituitary adenoma 5, multiple types ⚠
• p.Gln1716Pro Multiple submitters pituitary adenoma 5, multiple types
• p.Gln2113Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Gln2404Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Gln91Ter Multiple submitters Childhood onset hearing loss
• p.Glu2103Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Glu2135fs Multiple submitters
• p.Glu2173Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Glu2624= Multiple submitters pituitary adenoma 5, multiple types
• p.Glu72Ter Multiple submitters Usher syndrome type 1
• p.Glu809Ter Multiple submitters Usher syndrome type 1
• p.Ile2132fs Multiple submitters inherited retinal dystrophy
• p.Ile311_Leu312insTer Multiple submitters Usher syndrome type 1
• p.Ile3210fs Multiple submitters Rare genetic deafness
• p.Leu1026fs Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Leu627fs Multiple submitters Usher syndrome
• p.Lys3099fs Multiple submitters
• p.Phe1888Ser Multiple submitters Usher syndrome
• p.Phe2577fs Multiple submitters Usher syndrome type 1D
• p.Phe3083fs Multiple submitters Usher syndrome type 1D
• p.Pro2323fs Multiple submitters Rare genetic deafness
• p.Pro3130fs Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Thr1587fs Multiple submitters pituitary adenoma 5, multiple types
• p.Thr2313fs Multiple submitters Usher syndrome type 1
• p.Trp22Ter Multiple submitters Usher syndrome
• p.Trp2592Ter Multiple submitters Rare genetic deafness
• p.Trp2811Ter Multiple submitters Usher syndrome type 1
• p.Tyr2362Ter Multiple submitters Usher syndrome
• p.Tyr2636Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Tyr2927Ter Multiple submitters Rare genetic deafness
• p.Val3056fs Multiple submitters Usher syndrome type 1
• c.146-2A>G Single submitter
• c.3221-2A>G Single submitter
• c.337del Single submitter Usher syndrome type 1D
• c.3431-1G>A Single submitter Usher syndrome type 1D
• c.3579+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.3715+1G>C Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.(?_3716 Single submitter Rare genetic deafness
• c.4105-2A>T Single submitter Usher syndrome type 1
• c.5068-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.5368+1G>A Single submitter
• c.5368+2T>C Single submitter
• c.5923+1G>A Single submitter Rare genetic deafness
• c.6049+1G>T Single submitter
• c.6254-3_6254delinsT Single submitter
• c.7225-1G>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.7660+1G>T Single submitter Usher syndrome type 1
• c.7872+1G>A Single submitter Childhood onset hearing loss
• c.7872+2T>C Single submitter
• c.7873-2A>T Single submitter Rare genetic deafness
• c.9278_9278+3del Single submitter Usher syndrome type 1D
• c.9278+2T>G Single submitter
• c.9631_9633+9del Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.9633+1G>A Single submitter
• p.Ala1126fs Single submitter
• p.Ala1425fs Single submitter
• p.Ala1974fs Single submitter
• p.Ala2320_Val2321insTer Single submitter
• p.Ala2374fs Single submitter
• p.Ala2753fs Single submitter
• p.Ala2770fs Single submitter
• p.Ala2797fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Arg1417fs Single submitter
• p.Arg1507fs Single submitter
• p.Arg1723fs Single submitter
• p.Arg1771fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Arg1840fs Single submitter
• p.Arg2126fs Single submitter
• p.Arg2270fs Single submitter
• p.Arg2373fs Single submitter
• p.Arg2659fs Single submitter
• p.Arg3168fs Single submitter
• p.Arg3fs Single submitter
• p.Arg95fs Single submitter
• p.Asn1733fs Single submitter
• p.Asn1818fs Single submitter
• p.Asn2289fs Single submitter
• p.Asn2521fs Single submitter
• p.Asn2616fs Single submitter
• p.Asn3044fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asn434fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asn62fs Single submitter
• p.Asp124fs Single submitter
• p.Asp1486fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp1626Ala Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp1648fs Single submitter
• p.Asp2361fs Single submitter
• p.Asp2641Asn Single submitter
• p.Asp2822fs Single submitter
• p.Asp3025fs Single submitter
• p.Asp509fs Single submitter
• p.Asp522_Tyr523insTer Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp645Gly Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp796fs Single submitter
• p.Cys1432_Pro1433delinsTer Single submitter
• p.Gln111fs Single submitter
• p.Gln1123Ter Single submitter
• p.Gln1210Ter Single submitter Rare genetic deafness
• p.Gln1294Ter Single submitter Usher syndrome type 1D
• p.Gln1635Ter Single submitter
• p.Gln210Ter Single submitter
• p.Gln2494Ter Single submitter
• p.Gln2674Ter Single submitter
• p.Gln2955Ter Single submitter
• p.Gln3051Ter Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gln3145Ter Single submitter
• p.Gln718fs Single submitter
• p.Gln757Ter Single submitter
• p.Glu1108Ter Single submitter
• p.Glu1478Ter Single submitter
• p.Glu1539Ter Single submitter
• p.Glu1640Ter Single submitter
• p.Glu2080Asp Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu2185Ter Single submitter
• p.Glu2208fs Single submitter
• p.Glu2228fs Single submitter
• p.Glu2228Ter Single submitter
• p.Glu2634fs Single submitter
• p.Glu2773fs Single submitter
• p.Glu2963Ter Single submitter
• p.Glu2974fs Single submitter Usher syndrome
• p.Glu3176fs Single submitter
• p.Glu3176Ter Single submitter
• p.Glu542Ter Single submitter
• p.Glu737fs Single submitter
• p.Glu851Ter Single submitter
• p.Glu919Ter Single submitter
• p.Glu952fs Single submitter
• p.Glu960fs Single submitter Usher syndrome
• p.Gly1118fs Single submitter Usher syndrome type 1D
• p.Gly1375fs Single submitter
• p.Gly162Arg Single submitter
• p.Gly165fs Single submitter
• p.Gly2342fs Single submitter
• p.Gly2586fs Single submitter
• p.Gly2643_Leu2644insTerGly Single submitter
• p.Gly2984fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gly476fs Single submitter
• p.Gly539fs Single submitter
• p.Gly687Ter Single submitter
• p.Gly752fs Single submitter
• p.Gly971fs Single submitter
• p.His10fs Single submitter
• p.His1153fs Single submitter
• p.His1619fs Single submitter
• p.His2054fs Single submitter
• p.Ile1463fs Single submitter
• p.Ile186fs Single submitter
• p.Ile2159fs Single submitter
• p.Ile2690fs Single submitter
• p.Ile3021fs Single submitter
• p.Ile371fs Single submitter
• p.Leu1218fs Single submitter
• p.Leu1485fs Single submitter
• p.Leu1731fs Single submitter
• p.Leu1801fs Single submitter
• p.Leu1914fs Single submitter
• p.Leu1958fs Single submitter
• p.Leu2056fs Single submitter
• p.Leu2207fs Single submitter pituitary adenoma 5, multiple types
• p.Leu2223fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu2327fs Single submitter
• p.Leu2591fs Single submitter
• p.Leu2644fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu2791fs Single submitter
• p.Leu2880fs Single submitter
• p.Leu3156fs Single submitter
• p.Leu3162_Trp3163insTer Single submitter
• p.Leu483fs Single submitter
• p.Leu508fs Single submitter
• p.Leu639fs Single submitter
• p.Leu65fs Single submitter
• p.Leu840fs Single submitter Usher syndrome type 1D
• p.Leu924fs Single submitter
• p.Leu939fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Lys1255fs Single submitter
• p.Phe2116fs Single submitter pituitary adenoma 5, multiple types
• p.Phe2611fs Single submitter
• p.Phe2663fs Single submitter
• p.Phe284fs Single submitter
• p.Phe3004fs Single submitter
• p.Phe662fs Single submitter
• p.Phe671fs Single submitter Rare genetic deafness
• p.Phe67fs Single submitter
• p.Phe78fs Single submitter
• p.Phe890fs Single submitter
• p.Pro1973fs Single submitter
• p.Pro650fs Single submitter
• p.Pro805fs Single submitter
• p.Pro867fs Single submitter
• p.Pro973fs Single submitter
• p.Pro993fs Single submitter
• p.Ser1031fs Single submitter
• p.Ser1238fs Single submitter
• p.Ser175fs Single submitter
• p.Ser2139_Tyr2140insTer Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ser2186_Ala2187insThrProSerArgGlnTer Single submitter
• p.Ser2265fs Single submitter
• p.Ser2527Ter Single submitter
• p.Ser2741Ter Single submitter
• p.Ser2924fs Single submitter
• p.Ser51fs Single submitter
• p.Thr1035fs Single submitter
• p.Thr1267_Val1268insTer Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Thr2052fs Single submitter
• p.Thr2151fs Single submitter
• p.Thr2191fs Single submitter sensorineural hearing loss disorder
• p.Thr46fs Single submitter
• p.Thr474fs Single submitter
• p.Thr543fs Single submitter Usher syndrome
• p.Thr875fs Single submitter Usher syndrome
• p.Thr889fs Single submitter
• p.Trp1138Ter Single submitter
• p.Trp2367Ter Single submitter
• p.Trp3132fs Single submitter
• p.Trp3163Ter Single submitter
• p.Trp778Ter Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Tyr1107Ter Single submitter
• p.Tyr1181fs Single submitter
• p.Tyr1318fs Single submitter
• p.Tyr1964Ter Single submitter
• p.Tyr1995Ter Single submitter Usher syndrome type 1D
• p.Tyr201Ter Single submitter
• p.Tyr2333Ter Single submitter Usher syndrome type 1
• p.Tyr2407Ter Single submitter
• p.Tyr246Ter Single submitter
• p.Tyr2702Ter Single submitter
• p.Tyr3187Ter Single submitter
• p.Tyr3195Ter Single submitter hearing loss, autosomal recessive
• p.Tyr427Ter Single submitter
• p.Tyr609Ter Single submitter
• p.Tyr711fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Tyr742Ter Single submitter
• p.Tyr815fs Single submitter
• p.Val103fs Single submitter
• p.Val1434fs Single submitter
• p.Val1622fs Single submitter
• p.Val16fs Single submitter Rare genetic deafness
• p.Val1734fs Single submitter
• p.Val2152fs Single submitter
• p.Val2260fs Single submitter
• p.Val2281fs Single submitter
• p.Val2610fs Single submitter
• p.Val2747fs Single submitter Usher syndrome type 1D
• p.Val388fs Single submitter
• p.Val547fs Single submitter
• p.Val567fs Single submitter
• p.Val907fs Single submitter
• p.Val912fs Single submitter
• p.Val947fs Single submitter
• c.1290+1G>A No assertion criteria inherited retinal dystrophy
• c.146-1G>C No assertion criteria autosomal recessive nonsyndromic hearing loss 12
• c.1987-1G>A No assertion criteria Usher syndrome type 1D
• c.3715+2T>A No assertion criteria inherited retinal dystrophy
• c.5369-1G>T No assertion criteria autosomal recessive nonsyndromic hearing loss 12
• c.5710_5712+3del No assertion criteria retinitis pigmentosa
• c.5923+2T>C No assertion criteria inherited retinal dystrophy
• p.Arg1483fs No assertion criteria autosomal recessive nonsyndromic hearing loss 12
• p.Asn1845Lys No assertion criteria Usher syndrome
• p.Asn652fs No assertion criteria inherited retinal dystrophy
• p.Glu1061Lys No assertion criteria autosomal recessive nonsyndromic hearing loss 12
• p.Glu2096Ter No assertion criteria Usher syndrome type 1D
• p.His1143fs No assertion criteria Usher syndrome type 1D
• p.Leu216Val No assertion criteria autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Tyr2000Ter No assertion criteria Usher syndrome type 1D
• p.Val3013_Val3014insTer No assertion criteria Usher syndrome type 1D

Pathogenic/Likely pathogenic 97

• c.1143_1176del Multiple submitters Usher syndrome type 1D
• c.1449+1G>T Multiple submitters Usher syndrome
• c.2177-2A>G Multiple submitters pituitary adenoma 5, multiple types
• c.2289+1G>C Multiple submitters pituitary adenoma 5, multiple types
• c.2398-1G>T Multiple submitters Usher syndrome type 1D
• c.288+2T>C Multiple submitters pituitary adenoma 5, multiple types
• c.2953+1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.3579+2T>C Multiple submitters Usher syndrome
• c.4105-4_4105-2delinsTCT Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.4488+2T>A Multiple submitters pituitary adenoma 5, multiple types
• c.5712+1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.6050-15G>A Multiple submitters Usher syndrome type 1D
• c.6050-1G>A Multiple submitters inherited retinal dystrophy
• c.6050-1G>C Multiple submitters Usher syndrome type 1
• c.6253+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.6253+2T>C Multiple submitters Usher syndrome type 1
• c.6712+1G>A Multiple submitters Usher syndrome type 1D
• c.7483-1G>C Multiple submitters Rare genetic deafness
• c.7872+1G>C Multiple submitters pituitary adenoma 5, multiple types
• c.8064+1G>A Multiple submitters Usher syndrome
• c.8064+1G>T Multiple submitters pituitary adenoma 5, multiple types
• c.8308+1G>A Multiple submitters Usher syndrome type 1D
• c.9280_9286del Multiple submitters Usher syndrome type 1D
• c.9319+1G>C Multiple submitters Usher syndrome type 1
• c.9381-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Ala2146fs Multiple submitters inherited retinal dystrophy
• p.Ala2232_Val2233insTer Multiple submitters pituitary adenoma 5, multiple types
• p.Ala2309fs Multiple submitters Usher syndrome type 1
• p.Arg1236Ter Multiple submitters Rare genetic deafness
• p.Arg1771Ter Multiple submitters Usher syndrome type 1
• p.Arg2115fs Multiple submitters pituitary adenoma 5, multiple types
• p.Arg269Trp Multiple submitters pituitary adenoma 5, multiple types
• p.Arg2795Ter Multiple submitters Usher syndrome type 1
• p.Arg3096fs Multiple submitters pituitary adenoma 5, multiple types
• p.Arg3186Ter Multiple submitters Rare genetic deafness
• p.Asn1521Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Asn2605Ser Multiple submitters pituitary adenoma 5, multiple types
• p.Asn393fs Multiple submitters Usher syndrome type 1
• p.Asp1341Asn Multiple submitters Prelingual sensorineural hearing impairment
• p.Asp2028Ala Multiple submitters Usher syndrome
• p.Asp2045Asn Multiple submitters Usher syndrome
• p.Asp2148Asn Multiple submitters Usher syndrome
• p.Asp2202Asn Multiple submitters pituitary adenoma 5, multiple types
• p.Asp918Asn Multiple submitters pituitary adenoma 5, multiple types
• p.Asp990Asn Multiple submitters pituitary adenoma 5, multiple types
• p.Gln2733Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Gln462fs Multiple submitters pituitary adenoma 5, multiple types
• p.Gln579Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Gln631Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Glu1006Lys Multiple submitters Monogenic hearing loss
• p.Glu1071Lys Multiple submitters Usher syndrome
• p.Glu1257Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Glu1749Ter Multiple submitters Usher syndrome type 1
• p.Glu1753Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Glu1917Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Glu2438Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Gly2017Ser Multiple submitters Rare genetic deafness ⚠
• p.Gly2150fs Multiple submitters Usher syndrome type 1
• p.Gly2156fs Multiple submitters Usher syndrome type 1
• p.Gly2783fs Multiple submitters Usher syndrome type 1
• p.Gly291Arg Multiple submitters pituitary adenoma 5, multiple types
• p.Gly291Ter Multiple submitters pituitary adenoma 5, multiple types
• p.His1769fs Multiple submitters Usher syndrome
• p.Leu1978fs Multiple submitters pituitary adenoma 5, multiple types
• p.Leu2315fs Multiple submitters pituitary adenoma 5, multiple types
• p.Leu2335fs Multiple submitters pituitary adenoma 5, multiple types
• p.Leu286fs Multiple submitters pituitary adenoma 5, multiple types
• p.Leu305fs Multiple submitters pituitary adenoma 5, multiple types
• p.Leu3085fs Multiple submitters pituitary adenoma 5, multiple types
• p.Leu826fs Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Lys2278fs Multiple submitters pituitary adenoma 5, multiple types
• p.Lys975fs Multiple submitters pituitary adenoma 5, multiple types
• p.Phe2664del Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Phe3125fs Multiple submitters pituitary adenoma 5, multiple types
• p.Phe995fs Multiple submitters
• p.Pro3059fs Multiple submitters pituitary adenoma 5, multiple types
• p.Pro346Leu Multiple submitters Usher syndrome type 1
• p.Pro346Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Ser166fs Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Ser3157fs Multiple submitters pituitary adenoma 5, multiple types
• p.Ser384Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Thr1708_Leu1709insTer Multiple submitters pituitary adenoma 5, multiple types
• p.Thr188fs Multiple submitters pituitary adenoma 5, multiple types
• p.Thr1904= Multiple submitters pituitary adenoma 5, multiple types
• p.Thr2425fs Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Thr2454= Multiple submitters Rare genetic deafness
• p.Thr477fs Multiple submitters Inborn genetic diseases
• p.Thr777fs Multiple submitters Usher syndrome type 1
• p.Tyr1621Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Tyr1942Ter Multiple submitters Usher syndrome type 1
• p.Tyr2519Ter Multiple submitters Usher syndrome type 1D
• p.Tyr2633Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Tyr2949Ter Multiple submitters Usher syndrome type 1
• p.Tyr783Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Val2635fs Multiple submitters pituitary adenoma 5, multiple types
• p.Val2737fs Multiple submitters Usher syndrome type 1D
• p.Val363fs Multiple submitters Usher syndrome type 1

Likely pathogenic 303

Showing the top 300 by review status; the full set is in the sitemap.

• p.Asp127Gly Expert panel Usher syndrome
• c.145+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.1752+1G>A Multiple submitters Usher syndrome type 1
• c.1859-1G>T Multiple submitters pituitary adenoma 5, multiple types
• c.2587+1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.2954-2A>G Multiple submitters pituitary adenoma 5, multiple types
• c.336+1del Multiple submitters Usher syndrome type 1
• c.336+1G>T Multiple submitters inherited retinal dystrophy
• c.3431-2A>G Multiple submitters Usher syndrome type 1
• c.4104+1G>T Multiple submitters
• c.4206+1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.4207-2A>G Multiple submitters pituitary adenoma 5, multiple types
• c.4210-1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.5187+1G>A Multiple submitters inherited retinal dystrophy
• c.5188-1G>A Multiple submitters Usher syndrome type 1
• c.5369-1G>A Multiple submitters Usher syndrome type 1
• c.624+1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.7054+1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.7224+1G>T Multiple submitters Usher syndrome type 1
• c.7225-1G>A Multiple submitters Usher syndrome type 1
• c.753+1G>A Multiple submitters Usher syndrome type 1
• c.754-2A>G Multiple submitters pituitary adenoma 5, multiple types
• c.7661-1G>C Multiple submitters Usher syndrome type 1D
• c.8309-1G>A Multiple submitters pituitary adenoma 5, multiple types
• c.9078-2A>G Multiple submitters pituitary adenoma 5, multiple types
• c.9198+2T>A Multiple submitters inherited retinal dystrophy
• p.Ala1072Asp Multiple submitters inherited retinal dystrophy
• p.Asn1845Ser Multiple submitters Usher syndrome
• p.Asp2716fs Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Glu1862Lys Multiple submitters Usher syndrome type 1D
• p.Glu1970Lys Multiple submitters ear malformation
• p.Glu2520Lys Multiple submitters pituitary adenoma 5, multiple types
• p.Ile721fs Multiple submitters Usher syndrome type 1
• p.Leu2735Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Leu2785fs Multiple submitters pituitary adenoma 5, multiple types
• p.Thr799fs Multiple submitters pituitary adenoma 5, multiple types
• p.Trp13Ter Multiple submitters pituitary adenoma 5, multiple types
• p.Val2274fs Multiple submitters Usher syndrome type 1
• c.1134+1G>A Single submitter
• c.1135-2A>C Single submitter
• c.1140+1G>C Single submitter
• c.1140+1G>T Single submitter
• c.1141-1G>A Single submitter
• c.1449+5G>A Single submitter
• c.145+1G>C Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.1450-1G>A Single submitter
• c.1450-2A>G Single submitter pituitary adenoma 5, multiple types
• c.1514+1G>A Single submitter
• c.1752+2T>C Single submitter
• c.1859-2A>G Single submitter pituitary adenoma 5, multiple types
• c.1987-1G>C Single submitter Usher syndrome type 1
• c.1987-1G>T Single submitter pituitary adenoma 5, multiple types
• c.2060-1G>A Single submitter inherited retinal dystrophy
• c.2176+1G>A Single submitter
• c.2290-1G>A Single submitter
• c.2397+1G>A Single submitter pituitary adenoma 5, multiple types
• c.2397+1G>C Single submitter
• c.2587+1G>C Single submitter pituitary adenoma 5, multiple types
• c.2587+1G>T Single submitter Usher syndrome type 1D
• c.2588-1G>A Single submitter
• c.2588-1G>T Single submitter
• c.2733+1G>A Single submitter
• c.2733+1G>C Single submitter pituitary adenoma 5, multiple types
• c.289-1G>A Single submitter
• c.289-1G>C Single submitter Usher syndrome type 1D
• c.3106+2T>G Single submitter
• c.3220+1G>T Single submitter
• c.3369+1G>A Single submitter inherited retinal dystrophy
• c.337-2A>G Single submitter Usher syndrome type 1D
• c.3430+1G>A Single submitter
• c.3430+2T>C Single submitter
• c.3715+1G>A Single submitter
• c.3715+1G>T Single submitter
• c.3716-2A>G Single submitter
• c.4101_4104+3del Single submitter pituitary adenoma 5, multiple types
• c.4105-1G>A Single submitter Usher syndrome type 1D
• c.4207-1G>C Single submitter
• c.4209+1G>A Single submitter
• c.429+2T>C Single submitter
• c.4360del Single submitter pituitary adenoma 5, multiple types
• c.4489-1G>A Single submitter
• c.4617+1G>A Single submitter
• c.4617+2T>C Single submitter
• c.5067+1G>A Single submitter Usher syndrome
• c.5187+2T>C Single submitter
• c.5188-2A>G Single submitter
• c.5368+1G>T Single submitter
• c.5369-2A>G Single submitter
• c.5502+1G>A Single submitter
• c.5502+2T>G Single submitter pituitary adenoma 5, multiple types
• c.5503-1G>T Single submitter
• c.5503-2A>G Single submitter
• c.5712+2T>G Single submitter Usher syndrome type 1
• c.5820+2T>C Single submitter pituitary adenoma 5, multiple types
• c.5821-1G>A Single submitter
• c.5924-1G>A Single submitter Usher syndrome type 1
• c.5924-2A>C Single submitter
• c.6050-2A>G Single submitter pituitary adenoma 5, multiple types
• c.624+2T>C Single submitter
• c.6242_6253+12del Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.6254-12_6258del Single submitter Usher syndrome type 1D
• c.6254-1G>A Single submitter Usher syndrome type 1
• c.6254-2A>C Single submitter Usher syndrome type 1D
• c.6254-3_6254-1del Single submitter Usher syndrome type 1
• c.67+1G>A Single submitter pituitary adenoma 5, multiple types
• c.67+1G>C Single submitter
• c.6712+2T>C Single submitter
• c.6713-1G>A Single submitter CDH23-related disorder
• c.68-111_116delinsAAATGATTCCAAAATGCCTTTTGGAATGT Single submitter
• c.6829+2T>C Single submitter
• c.7225-2A>C Single submitter
• c.7225-2A>G Single submitter
• c.7225del Single submitter Usher syndrome type 1D
• c.7362+1G>A Single submitter
• c.7482+2T>C Single submitter
• c.7483-1G>A Single submitter pituitary adenoma 5, multiple types
• c.7872+2T>A Single submitter
• c.7873-1G>A Single submitter
• c.8064+1G>C Single submitter Usher syndrome type 1
• c.8179-1G>A Single submitter
• c.832+1G>A Single submitter
• c.833-1G>A Single submitter Usher syndrome type 1D
• c.8560+1G>A Single submitter
• c.8561-1G>A Single submitter
• c.8722+1G>A Single submitter pituitary adenoma 5, multiple types
• c.8722+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.8722+2T>G Single submitter
• c.8723-2A>G Single submitter
• c.8979+1G>A Single submitter
• c.9077+2T>C Single submitter pituitary adenoma 5, multiple types
• c.9078-1G>C Single submitter Usher syndrome type 1
• c.9078-2A>C Single submitter pituitary adenoma 5, multiple types
• c.9199-1G>A Single submitter
• c.9199-2A>C Single submitter
• c.9278+2T>A Single submitter Usher syndrome
• c.9320-1G>A Single submitter
• c.945+1G>C Single submitter
• c.946-1G>A Single submitter
• c.946-1G>C Single submitter Usher syndrome type 1
• c.9511-1G>A Single submitter
• c.9511-2A>C Single submitter Usher syndrome type 1D
• c.9634-1G>A Single submitter Usher syndrome type 1D
• c.9634-2A>G Single submitter
• c.9738+1G>T Single submitter pituitary adenoma 5, multiple types
• p.Ala1466fs Single submitter Usher syndrome type 1D
• p.Ala2230fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ala2277Thr Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Ala2922fs Single submitter pituitary adenoma 5, multiple types
• p.Ala646fs Single submitter pituitary adenoma 5, multiple types
• p.Arg1099fs Single submitter pituitary adenoma 5, multiple types
• p.Arg116fs Single submitter pituitary adenoma 5, multiple types
• p.Arg140fs Single submitter Usher syndrome type 1
• p.Arg1939Met Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Arg2815fs Single submitter pituitary adenoma 5, multiple types
• p.Arg2845fs Single submitter pituitary adenoma 5, multiple types
• p.Arg3043fs Single submitter pituitary adenoma 5, multiple types
• p.Arg935fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asn1889fs Single submitter pituitary adenoma 5, multiple types
• p.Asn2168Lys Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asn2226fs Single submitter pituitary adenoma 5, multiple types
• p.Asn2541_Gly2542insTer Single submitter pituitary adenoma 5, multiple types
• p.Asn765fs Single submitter pituitary adenoma 5, multiple types
• p.Asp1059Val Single submitter Childhood onset hearing loss
• p.Asp1240fs Single submitter pituitary adenoma 5, multiple types
• p.Asp1308Val Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp1491fs Single submitter pituitary adenoma 5, multiple types
• p.Asp1522Val Single submitter
• p.Asp160fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp1747fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp1993fs Single submitter pituitary adenoma 5, multiple types
• p.Asp228Val Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp2322Val Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp2641His Single submitter Rare genetic deafness
• p.Asp264Tyr Single submitter
• p.Asp2660fs Single submitter Usher syndrome type 1D
• p.Asp2667fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp2714Tyr Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp589Asn Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp804Asn Single submitter Usher syndrome type 1D
• p.Asp954His Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Cys1717Arg Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gln1212Ter Single submitter pituitary adenoma 5, multiple types
• p.Gln1312Ter Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gln1436Ter Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gln1453Ter Single submitter Usher syndrome type 1
• p.Gln1758Ter Single submitter Usher syndrome type 1D
• p.Gln2090Ter Single submitter Usher syndrome type 1
• p.Gln2345Ter Single submitter Usher syndrome type 1D
• p.Gln2731Ter Single submitter Usher syndrome type 1D
• p.Gln2830Ter Single submitter Usher syndrome type 1
• p.Gln2903Ter Single submitter Usher syndrome type 1
• p.Gln3037Ter Single submitter pituitary adenoma 5, multiple types
• p.Gln462Ter Single submitter Usher syndrome type 1
• p.Gln527Ter Single submitter pituitary adenoma 5, multiple types
• p.Glu1133Ter Single submitter pituitary adenoma 5, multiple types
• p.Glu1179Ter Single submitter pituitary adenoma 5, multiple types
• p.Glu1274fs Single submitter pituitary adenoma 5, multiple types
• p.Glu143Ala Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu143Ter Single submitter Usher syndrome type 1
• p.Glu1812Ter Single submitter Usher syndrome type 1D
• p.Glu1917Gly Single submitter Usher syndrome type 1D
• p.Glu2030Gly Single submitter
• p.Glu2138fs Single submitter Rare genetic deafness
• p.Glu2173fs Single submitter pituitary adenoma 5, multiple types
• p.Glu2307Lys Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu247Ter Single submitter pituitary adenoma 5, multiple types
• p.Glu2773Ter Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu2864Ter Single submitter pituitary adenoma 5, multiple types
• p.Glu2974Ter Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu3194fs Single submitter Usher syndrome type 1
• p.Glu44Asp Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu524Lys Single submitter Usher syndrome
• p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu Single submitter Usher syndrome
• p.Glu843fs Single submitter pituitary adenoma 5, multiple types
• p.Glu901Lys Single submitter Rare genetic deafness
• p.Glu96fs Single submitter Usher syndrome type 1
• p.Gly1532fs Single submitter Usher syndrome type 1D
• p.Gly165Val Single submitter
• p.Gly1760fs Single submitter pituitary adenoma 5, multiple types
• p.Gly2085fs Single submitter Usher syndrome type 1D
• p.Gly2238Glu Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gly2671Asp Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.His775fs Single submitter Usher syndrome type 1D
• p.Ile1476fs Single submitter pituitary adenoma 5, multiple types
• p.Ile2125Asn Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ile235fs Single submitter pituitary adenoma 5, multiple types
• p.Ile2420fs Single submitter pituitary adenoma 5, multiple types
• p.Ile2763fs Single submitter Usher syndrome type 1D
• p.Ile2959fs Single submitter pituitary adenoma 5, multiple types
• p.Ile3070fs Single submitter Usher syndrome type 1D
• p.Ile3205fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ile710_Tyr711insTer Single submitter inherited retinal dystrophy
• p.Ile915fs Single submitter Usher syndrome type 1
• p.Leu1124Arg Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu1166fs Single submitter ear malformation
• p.Leu1563fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu1563Pro Single submitter Usher syndrome type 1
• p.Leu1852fs Single submitter Usher syndrome type 1
• p.Leu2104fs Single submitter pituitary adenoma 5, multiple types
• p.Leu222fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu2330fs Single submitter pituitary adenoma 5, multiple types
• p.Leu2712Gln Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu2721fs Single submitter pituitary adenoma 5, multiple types
• p.Leu583fs Single submitter pituitary adenoma 5, multiple types
• p.Leu651fs Single submitter CDH23-related disorder
• p.Leu807fs Single submitter Usher syndrome type 1D
• p.Lys1442fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Lys2325Ter Single submitter Usher syndrome type 1D
• p.Lys2640Ter Single submitter Usher syndrome type 1
• p.Met1574fs Single submitter pituitary adenoma 5, multiple types
• p.Phe1418fs Single submitter Usher syndrome type 1
• p.Phe1480fs Single submitter pituitary adenoma 5, multiple types
• p.Phe2086fs Single submitter Usher syndrome type 1D
• p.Pro1163fs Single submitter pituitary adenoma 5, multiple types
• p.Pro1591fs Single submitter Usher syndrome type 1
• p.Pro2341fs Single submitter pituitary adenoma 5, multiple types
• p.Pro2387fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Pro2523fs Single submitter pituitary adenoma 5, multiple types
• p.Pro2609Leu Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Pro2614fs Single submitter pituitary adenoma 5, multiple types
• p.Pro559Ser Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Pro793fs Single submitter Usher syndrome type 1D
• p.Ser2155fs Single submitter Usher syndrome type 1
• p.Ser2155Ter Single submitter pituitary adenoma 5, multiple types
• p.Ser859fs Single submitter Usher syndrome type 1
• p.Thr1062fs Single submitter Usher syndrome type 1
• p.Thr1083fs Single submitter Usher syndrome type 1D
• p.Thr1368fs Single submitter Usher syndrome type 1D
• p.Thr1613fs Single submitter Usher syndrome type 1
• p.Thr2280fs Single submitter inherited retinal dystrophy
• p.Thr3167fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Thr578fs Single submitter Usher syndrome type 1
• p.Thr861fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Thr949fs Single submitter pituitary adenoma 5, multiple types
• p.Thr992fs Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Trp1444Ter Single submitter pituitary adenoma 5, multiple types
• p.Trp3088Ter Single submitter pituitary adenoma 5, multiple types
• p.Trp778fs Single submitter Usher syndrome type 1
• p.Tyr1139Ter Single submitter inherited retinal dystrophy
• p.Tyr1197Ter Single submitter pituitary adenoma 5, multiple types
• p.Tyr2333fs Single submitter Usher syndrome type 1
• p.Tyr2687Ter Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Tyr288Ter Single submitter pituitary adenoma 5, multiple types
• p.Tyr306Ter Single submitter Usher syndrome type 1D
• p.Tyr3090Ter Single submitter
• p.Tyr3222Ter Single submitter Usher syndrome type 1
• p.Tyr465Ter Single submitter Usher syndrome type 1D
• p.Tyr910Ter Single submitter Usher syndrome type 1D
• p.Val1207fs Single submitter Usher syndrome type 1D
• p.Val1283fs Single submitter
• p.Val1377fs Single submitter Usher syndrome type 1
• p.Val1537fs Single submitter Usher syndrome type 1
• p.Val2127Phe Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Val2331Ala Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Val2553fs Single submitter Usher syndrome type 1
• p.Val374fs Single submitter pituitary adenoma 5, multiple types
• c.1986+3A>T No assertion criteria autosomal recessive nonsyndromic hearing loss 12
• p.Arg1502Ter No assertion criteria inherited retinal dystrophy
• p.Asn2399del No assertion criteria inherited retinal dystrophy
• p.Gly2024fs No assertion criteria autosomal recessive nonsyndromic hearing loss 12

Conflicting classifications of pathogenicity 338

Showing the top 300 by review status; the full set is in the sitemap.

• c.1135-10C>G Single submitter
• c.1140+14T>C Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.1450-10G>A Single submitter Usher syndrome type 1D
• c.1450-4G>A Single submitter
• c.1752+6G>A Single submitter
• c.2059+1G>T Single submitter Inborn genetic diseases
• c.2176+12C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.2176+3G>T Single submitter
• c.2587+35C>T Single submitter Usher syndrome
• c.2953+10C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.2954-14G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.2954-15C>T Single submitter Usher syndrome type 1D
• c.2954-5del Single submitter
• c.3106+11G>A Single submitter Usher syndrome type 1D
• c.3220+1G>A Single submitter Usher syndrome type 1
• c.3369+12G>A Single submitter Usher syndrome type 1D
• c.3431-6A>T Single submitter cone-rod dystrophy
• c.3580-11G>A Single submitter
• c.3580-13C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.4104+15del Single submitter
• c.4207-8G>T Single submitter
• c.4209+1G>T Single submitter pituitary adenoma 5, multiple types
• c.4210-12G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.4210-2A>G Single submitter Usher syndrome type 1D
• c.4488+7C>T Single submitter
• c.5067+15G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.5713-9A>G Single submitter
• c.5820+5G>A Single submitter pituitary adenoma 5, multiple types
• c.5821-13C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.6050-10C>T Single submitter
• c.67+8C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.6713-8G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.68-3C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.7055-15G>A Single submitter Usher syndrome type 1D
• c.7225-11C>G Single submitter Usher syndrome type 1D
• c.7362+14G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.7482+12C>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.7661-8A>G Single submitter Usher syndrome type 1D
• c.7873-8C>G Single submitter
• c.8064+13C>A Single submitter Usher syndrome type 1D
• c.8065-5C>A Single submitter inherited retinal dystrophy
• c.8065-8G>A Single submitter
• c.8065-9C>T Single submitter
• c.8309-3C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.8979+13C>T Single submitter Usher syndrome type 1D
• c.8980-12C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.8980-14C>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.9077+7C>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.9199-4G>A Single submitter pituitary adenoma 5, multiple types
• c.9510+14G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.9510+14G>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.9510+19_9510+25del Single submitter Usher syndrome type 1D
• c.9511-7T>C Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.9633+14G>A Single submitter Usher syndrome type 1D
• c.9738+6C>T Single submitter
• c.9739-12G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.-15C>A Single submitter Usher syndrome type 1D
• c.*361C>A Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.*430A>T Single submitter autosomal recessive nonsyndromic hearing loss 12
• c.*434G>A Single submitter Krabbe disease due to saposin A deficiency
• c.*515C>A Single submitter Usher syndrome type 1D
• p.Ala1464Ser Single submitter Usher syndrome type 1 ⚠
• p.Ala1464Val Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Ala1499Ser Single submitter ⚠
• p.Ala1631Val Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Ala1676Thr Single submitter Usher syndrome type 1D ⚠
• p.Ala179Thr Single submitter ⚠
• p.Ala1871Thr Single submitter Usher syndrome type 1D ⚠
• p.Ala1990= Single submitter Usher syndrome type 1D
• p.Ala2216= Single submitter Usher syndrome type 1D
• p.Ala260Thr Single submitter pituitary adenoma 5, multiple types
• p.Ala2685Ser Single submitter Usher syndrome type 2 ⚠
• p.Ala3080Thr Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Ala3144Thr Single submitter Inborn genetic diseases ⚠
• p.Ala328Thr Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Ala356= Single submitter Usher syndrome type 1D
• p.Ala366Thr Single submitter inherited retinal dystrophy ⚠
• p.Ala605Val Single submitter Usher syndrome ⚠
• p.Ala781Thr Single submitter Usher syndrome type 1 ⚠
• p.Arg1170Trp Single submitter Usher syndrome type 1 ⚠
• p.Arg1236Gln Single submitter Usher syndrome type 1 ⚠
• p.Arg1349Cys Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Arg1417Trp Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Arg1580Cys Single submitter Usher syndrome type 1 ⚠
• p.Arg1588Trp Single submitter pituitary adenoma 5, multiple types
• p.Arg1594= Single submitter
• p.Arg1596Cys Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Arg1684Cys Single submitter Inborn genetic diseases ⚠
• p.Arg1684Pro Single submitter Inborn genetic diseases ⚠
• p.Arg1746Trp Single submitter Usher syndrome type 1D
• p.Arg1771Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1804Trp Single submitter Usher syndrome type 1D ⚠
• p.Arg184His Single submitter ⚠
• p.Arg1912Trp Single submitter hearing loss disorder
• p.Arg1916His Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Arg1918Gln Single submitter CDH23-related disorder ⚠
• p.Arg191Gln Single submitter ⚠
• p.Arg2066Trp Single submitter ⚠
• p.Arg2171His Single submitter Meniere disease ⚠
• p.Arg2222Cys Single submitter Inborn genetic diseases ⚠
• p.Arg2270His Single submitter ⚠
• p.Arg2304Gln Single submitter Usher syndrome type 1D ⚠
• p.Arg2382Gln Single submitter pituitary adenoma 5, multiple types ⚠
• p.Arg2465Gln Single submitter Usher syndrome type 1
• p.Arg2608His Single submitter Rare genetic deafness
• p.Arg2793Gln Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Arg2793Trp Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Arg2815His Single submitter Usher syndrome type 1D ⚠
• p.Arg301Trp Single submitter Usher syndrome type 1
• p.Arg3020Cys Single submitter ⚠
• p.Arg3026= Single submitter Inborn genetic diseases
• p.Arg3043Gln Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Arg3175His Single submitter pituitary adenoma 5, multiple types ⚠
• p.Arg3206His Single submitter Usher syndrome type 1
• p.Arg3224Trp Single submitter inherited retinal dystrophy
• p.Arg3341Cys Single submitter pituitary adenoma 5, multiple types ⚠
• p.Arg457Trp Single submitter Rare genetic deafness
• p.Arg528= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Arg546Gln Single submitter Inborn genetic diseases
• p.Arg584Trp Single submitter Usher syndrome type 1
• p.Arg700= Single submitter Usher syndrome type 1D
• p.Arg724His Single submitter
• p.Arg747Cys Single submitter pituitary adenoma 5, multiple types
• p.Arg964Gln Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asn1282Ser Single submitter Meniere disease
• p.Asn1305= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asn1540= Single submitter Usher syndrome type 1
• p.Asn1889= Single submitter
• p.Asn1955= Single submitter Usher syndrome type 1D
• p.Asn206Thr Single submitter Usher syndrome type 1 ⚠
• p.Asn2226= Single submitter Usher syndrome type 1
• p.Asn2487= Single submitter Usher syndrome type 1D
• p.Asn2941= Single submitter Usher syndrome type 1D
• p.Asn2962= Single submitter Usher syndrome type 1
• p.Asn320= Single submitter Usher syndrome type 1D
• p.Asn342Ser Single submitter ⚠
• p.Asn434Ser Single submitter Inborn genetic diseases ⚠
• p.Asn555= Single submitter Usher syndrome type 1D
• p.Asn573= Single submitter Usher syndrome type 1D
• p.Asn844= Single submitter
• p.Asp1023= Single submitter Usher syndrome type 1D
• p.Asp1074Asn Single submitter Usher syndrome
• p.Asp1308= Single submitter Usher syndrome type 1
• p.Asp1393= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp1554Glu Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Asp1686Asn Single submitter Inborn genetic diseases ⚠
• p.Asp1848= Single submitter Usher syndrome type 1D
• p.Asp2218Glu Single submitter Usher syndrome type 1D
• p.Asp2229= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp2376Glu Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp2667His Single submitter Usher syndrome type 1D
• p.Asp2782Asn Single submitter Inborn genetic diseases ⚠
• p.Asp2942Asn Single submitter Usher syndrome type 1D ⚠
• p.Asp2953= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp3253= Single submitter
• p.Asp3342= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Asp428Asn Single submitter Usher syndrome type 1D ⚠
• p.Asp439= Single submitter Usher syndrome type 1
• p.Asp645Asn Single submitter Inborn genetic diseases ⚠
• p.Asp770= Single submitter Usher syndrome type 1D
• p.Asp916Asn Single submitter Usher syndrome type 1D ⚠
• p.Asp990= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gln1232Arg Single submitter Inborn genetic diseases ⚠
• p.Gln263= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gln2674= Single submitter Usher syndrome type 1D
• p.Gln3029= Single submitter
• p.Gln54Glu Single submitter Inborn genetic diseases ⚠
• p.Glu1071= Single submitter Usher syndrome type 1D
• p.Glu1133Lys Single submitter pituitary adenoma 5, multiple types ⚠
• p.Glu1274Lys Single submitter hearing loss, autosomal recessive ⚠
• p.Glu1309= Single submitter Usher syndrome type 1
• p.Glu1595Lys Single submitter CDH23-related disorder
• p.Glu1701Lys Single submitter Usher syndrome type 1D ⚠
• p.Glu192Gln Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Glu196= Single submitter Usher syndrome type 1D
• p.Glu196Lys Single submitter Inborn genetic diseases ⚠
• p.Glu2080Gln Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu2185Asp Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu2490Lys Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Glu2588Gln Single submitter Usher syndrome type 1D ⚠
• p.Glu2972Lys Single submitter Inborn genetic diseases ⚠
• p.Glu3036= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Glu3220fs Single submitter pituitary adenoma 5, multiple types
• p.Glu3346Gln Single submitter Usher syndrome type 1 ⚠
• p.Glu956Gly Single submitter ear malformation ⚠
• p.Glu960Lys Single submitter Usher syndrome type 1D ⚠
• p.Gly1025Asp Single submitter Childhood onset hearing loss ⚠
• p.Gly1162= Single submitter
• p.Gly1452= Single submitter Usher syndrome type 1D
• p.Gly1583Ser Single submitter Usher syndrome type 1 ⚠
• p.Gly1610Val Single submitter Usher syndrome type 1 ⚠
• p.Gly1799= Single submitter Usher syndrome type 1D
• p.Gly1827= Single submitter
• p.Gly185Ser Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Gly2111= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gly2213Ser Single submitter Inborn genetic diseases ⚠
• p.Gly2771Ser Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Gly278Glu Single submitter hearing loss disorder
• p.Gly2902Ser Single submitter ⚠
• p.Gly2912Ser Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Gly3287Asp Single submitter Inborn genetic diseases
• p.Gly864Val Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Gly923Ser Single submitter pituitary adenoma 5, multiple types
• p.His110= Single submitter Usher syndrome type 1
• p.His1601del Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.His1619= Single submitter Usher syndrome type 1D
• p.His1704= Single submitter Usher syndrome type 1D
• p.His2977= Single submitter Usher syndrome type 1D
• p.Ile1101Val Single submitter Inborn genetic diseases ⚠
• p.Ile1121Phe Single submitter inherited retinal dystrophy
• p.Ile1469Val Single submitter Usher syndrome type 1D ⚠
• p.Ile1674= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ile1679= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ile1710= Single submitter Usher syndrome type 1
• p.Ile1814= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ile2036= Single submitter
• p.Ile2046= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ile2057Val Single submitter Inborn genetic diseases ⚠
• p.Ile2178Asn Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Ile2235= Single submitter Usher syndrome type 1D
• p.Ile258Val Single submitter Inborn genetic diseases ⚠
• p.Ile2665Thr Single submitter Inborn genetic diseases ⚠
• p.Ile3112Thr Single submitter Usher syndrome type 1 ⚠
• p.Ile3210Thr Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ile515Val Single submitter Inborn genetic diseases ⚠
• p.Ile710Val Single submitter Inborn genetic diseases
• p.Ile721= Single submitter Usher syndrome type 1
• p.Ile745= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ile856Met Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu1122Val Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Leu1159= Single submitter
• p.Leu1614= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu1662= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu1944Ser Single submitter Inborn genetic diseases ⚠
• p.Leu2009His Single submitter Inborn genetic diseases ⚠
• p.Leu2142= Single submitter Usher syndrome type 1
• p.Leu2163= Single submitter Usher syndrome type 1
• p.Leu2284= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu2544= Single submitter Usher syndrome type 1D
• p.Leu2691= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu286= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu3041Val Single submitter Usher syndrome type 1D ⚠
• p.Leu390= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Leu787_Asp794del Single submitter
• p.Lys1255Met Single submitter Inborn genetic diseases ⚠
• p.Lys1923= Single submitter
• p.Lys779= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Met1160Ile Single submitter Usher syndrome type 1D ⚠
• p.Met1281del Single submitter Usher syndrome type 1D
• p.Met1689Thr Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Met1835Ile Single submitter Childhood onset hearing loss ⚠
• p.Met3345Leu Single submitter Inborn genetic diseases ⚠
• p.Phe1634= Single submitter
• p.Phe1766Ser Single submitter Usher syndrome type 1D ⚠
• p.Phe2917= Single submitter
• p.Pro1077Leu Single submitter Inborn genetic diseases ⚠
• p.Pro1484Leu Single submitter Usher syndrome type 1D ⚠
• p.Pro1530Leu Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Pro1957= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Pro1977= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Pro2925= Single submitter Usher syndrome type 1D
• p.Pro904Leu Single submitter Inborn genetic diseases ⚠
• p.Ser108= Single submitter Usher syndrome type 1D
• p.Ser1110Arg Single submitter pituitary adenoma 5, multiple types ⚠
• p.Ser1500Thr Single submitter Inborn genetic diseases ⚠
• p.Ser1615= Single submitter
• p.Ser170= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ser2033Leu Single submitter Usher syndrome type 1 ⚠
• p.Ser2155= Single submitter Usher syndrome type 1
• p.Ser2350= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ser2350Leu Single submitter pituitary adenoma 5, multiple types ⚠
• p.Ser2517= Single submitter Usher syndrome type 1D
• p.Ser2807= Single submitter Usher syndrome type 1
• p.Ser290= Single submitter
• p.Ser3311= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ser354= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Ser395= Single submitter
• p.Ser436Asn Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Ser944Gly Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Thr1062= Single submitter Usher syndrome type 1D
• p.Thr1083= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Thr1226= Single submitter Usher syndrome type 1D
• p.Thr1347Met Single submitter Usher syndrome type 1 ⚠
• p.Thr1401= Single submitter Usher syndrome type 1D
• p.Thr1568= Single submitter Usher syndrome type 1
• p.Thr1743Asn Single submitter pituitary adenoma 5, multiple types ⚠
• p.Thr1979= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Thr1979Met Single submitter ⚠
• p.Thr2058Asn Single submitter Inborn genetic diseases ⚠
• p.Thr2143= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Thr2359= Single submitter
• p.Thr3314= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Thr332= Single submitter
• p.Thr491Ile Single submitter autosomal recessive nonsyndromic hearing loss 12 ⚠
• p.Thr532Met Single submitter inherited retinal dystrophy ⚠
• p.Thr798= Single submitter Usher syndrome type 1
• p.Thr980= Single submitter autosomal recessive nonsyndromic hearing loss 12
• p.Tyr1566del Single submitter Usher syndrome type 1D
• p.Tyr1995= Single submitter Usher syndrome type 1D
• p.Tyr2574= Single submitter autosomal recessive nonsyndromic hearing loss 12

Benign 229

• c.429+4G>A Expert panel nonsyndromic genetic hearing loss
• p.His755Tyr Expert panel nonsyndromic genetic hearing loss
• p.Thr1209Ala Expert panel Usher syndrome
• c.1134+113C>T Multiple submitters
• c.1134+164C>G Multiple submitters pituitary adenoma 5, multiple types
• c.1134+180T>C Multiple submitters
• c.1135-128A>G Multiple submitters pituitary adenoma 5, multiple types
• c.1141-106A>T Multiple submitters
• c.1141-171T>C Multiple submitters
• c.1141-179G>A Multiple submitters
• c.1290+217T>C Multiple submitters Usher syndrome type 1D
• c.1449+130T>C Multiple submitters Usher syndrome type 1D
• c.1449+225G>A Multiple submitters
• c.1449+262C>T Multiple submitters
• c.1449+323G>T Multiple submitters
• c.1449+435C>T Multiple submitters
• c.1450-179G>A Multiple submitters
• c.146-125T>C Multiple submitters pituitary adenoma 5, multiple types
• c.146-147G>A Multiple submitters
• c.1753-43T>C Multiple submitters Usher syndrome type 1D
• c.1753-56T>C Multiple submitters
• c.1753-78A>T Multiple submitters Usher syndrome type 1D
• c.1858+79A>G Multiple submitters
• c.2059+79C>T Multiple submitters Usher syndrome type 1D
• c.2060-176C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.2060-19C>G Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.2060-38G>T Multiple submitters
• c.2176+191C>T Multiple submitters
• c.2289+135C>T Multiple submitters
• c.2289+240T>C Multiple submitters
• c.2290-13del Multiple submitters
• c.2290-19G>A Multiple submitters
• c.2397+26T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.2734-17C>T Multiple submitters
• c.288+55C>T Multiple submitters
• c.3106+17C>T Multiple submitters
• c.3106+389C>T Multiple submitters
• c.3220+117A>G Multiple submitters
• c.3220+15C>T Multiple submitters
• c.3369+123G>A Multiple submitters
• c.3369+298C>G Multiple submitters
• c.3369+312C>T Multiple submitters
• c.3369+58C>T Multiple submitters
• c.3370-157C>T Multiple submitters
• c.3370-29G>A Multiple submitters
• c.3370-46T>C Multiple submitters Usher syndrome type 1D
• c.3430+114T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.3580-12C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.4105-183G>C Multiple submitters
• c.4206+131T>C Multiple submitters pituitary adenoma 5, multiple types
• c.4206+61T>A Multiple submitters Usher syndrome type 1D
• c.4207-125G>A Multiple submitters
• c.4207-18T>C Multiple submitters
• c.4209+99G>A Multiple submitters
• c.4210-53T>C Multiple submitters
• c.429+13G>A Multiple submitters Usher syndrome type 1D
• c.429+26A>G Multiple submitters Usher syndrome type 1D
• c.4359+11G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.4488+32C>G Multiple submitters Usher syndrome type 1D
• c.4617+42G>T Multiple submitters
• c.4617+54C>T Multiple submitters
• c.4617+63C>T Multiple submitters
• c.4618-246A>T Multiple submitters
• c.4618-77C>T Multiple submitters Usher syndrome type 1D
• c.4845+84A>G Multiple submitters
• c.4846-135C>T Multiple submitters
• c.4846-16805A>C Multiple submitters retinitis pigmentosa-deafness syndrome
• c.4846-4260A>G Multiple submitters retinitis pigmentosa-deafness syndrome
• c.4846-49T>C Multiple submitters Usher syndrome type 1D
• c.5068-125G>T Multiple submitters
• c.5187+44C>G Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.5187+73C>T Multiple submitters Usher syndrome type 1D
• c.5187+99T>C Multiple submitters pituitary adenoma 5, multiple types
• c.5188-128T>A Multiple submitters
• c.5188-57G>A Multiple submitters
• c.5503-10A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.5503-44T>C Multiple submitters Usher syndrome type 1D
• c.5713-152G>T Multiple submitters
• c.5713-203G>A Multiple submitters
• c.5923+77T>C Multiple submitters
• c.625-138G>A Multiple submitters
• c.625-244C>T Multiple submitters
• c.625-93G>A Multiple submitters Usher syndrome type 1D
• c.67+12C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.6713-169A>C Multiple submitters
• c.68-44T>C Multiple submitters
• c.6830-81G>A Multiple submitters Usher syndrome type 1D
• c.7055-16A>G Multiple submitters Usher syndrome type 1D
• c.7225-22C>T Multiple submitters Usher syndrome type 1D
• c.7362+59G>C Multiple submitters
• c.7482+64C>T Multiple submitters
• c.7483-117C>T Multiple submitters
• c.8178+165T>A Multiple submitters
• c.8179-256G>A Multiple submitters
• c.832+101G>A Multiple submitters pituitary adenoma 5, multiple types
• c.8723-102G>A Multiple submitters
• c.8980-188T>C Multiple submitters
• c.9077+8G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.9320-93C>G Multiple submitters
• c.9380+109G>A Multiple submitters
• c.9380+111C>T Multiple submitters
• c.-1C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• c.-5-126T>G Multiple submitters
• c.-5-251A>G Multiple submitters
• c.-5-83C>A Multiple submitters Usher syndrome type 1D
• p.Ala1575Thr Multiple submitters retinitis pigmentosa-deafness syndrome
• p.Ala2524= Multiple submitters Usher syndrome type 1D
• p.Asp1447= Multiple submitters Usher syndrome type 1D
• p.Gly1503= Multiple submitters Usher syndrome type 1D
• p.Gly490Ala Multiple submitters Usher syndrome type 1D
• p.Gly808= Multiple submitters Usher syndrome type 1D
• p.Leu298= Multiple submitters Usher syndrome type 1
• p.Pro1433= Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Pro346= Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Ser351= Multiple submitters Usher syndrome type 1D
• p.Tyr1700= Multiple submitters autosomal recessive nonsyndromic hearing loss 12
• p.Val1675Ile Multiple submitters Usher syndrome type 1D
• c.1135-294C>T Single submitter
• c.1135-294dup Single submitter
• c.1141-249A>G Single submitter
• c.1290+132A>G Single submitter
• c.1290+237dup Single submitter
• c.1291-185A>G Single submitter
• c.1291-3del Single submitter
• c.145+11dup Single submitter
• c.145+135C>T Single submitter
• c.1515-177C>A Single submitter
• c.1515-178C>T Single submitter
• c.1515-193A>G Single submitter
• c.1515-333C>T Single submitter
• c.1515-341T>A Single submitter
• c.1752+110T>C Single submitter
• c.1752+300G>T Single submitter
• c.1753-292C>T Single submitter
• c.1858+12del Single submitter
• c.1858+334C>T Single submitter
• c.1859-223C>T Single submitter
• c.2059+21del Single submitter
• c.2060-6del Single submitter
• c.2176+12del Single submitter
• c.2176+320C>G Single submitter
• c.2289+413T>A Single submitter
• c.2289+428A>C Single submitter
• c.2289+467A>G Single submitter
• c.2290-240C>G Single submitter
• c.2290-253A>G Single submitter
• c.2290-267C>T Single submitter
• c.2290-268G>A Single submitter
• c.2290-538T>C Single submitter
• c.2290-578G>A Single submitter
• c.2398-132T>A Single submitter
• c.2398-269dup Single submitter
• c.2733+17T>G Single submitter
• c.2734-202C>T Single submitter
• c.288+253T>G Single submitter
• c.288+275C>G Single submitter
• c.289-314A>C Single submitter
• c.289-8del Single submitter
• c.2953+146C>T Single submitter
• c.337-17C>T Single submitter
• c.3370-253C>T Single submitter
• c.3430+186T>C Single submitter
• c.3431-189C>G Single submitter
• c.3580-240A>G Single submitter
• c.3715+320G>A Single submitter
• c.4105-160C>T Single submitter
• c.429+13= Single submitter
• c.429+16dup Single submitter
• c.430-159C>T Single submitter
• c.430-219G>C Single submitter
• c.4359+172del Single submitter
• c.4359+240A>G Single submitter
• c.4360-223C>A Single submitter
• c.4360-330C>T Single submitter
• c.4360-333T>C Single submitter
• c.4488+298G>A Single submitter
• c.4489-197G>C Single submitter
• c.4489-230C>T Single submitter
• c.4617+154C>T Single submitter
• c.4617+18del Single submitter
• c.4846-242del Single submitter
• c.4846-7del Single submitter
• c.5188-13del Single submitter
• c.5713-224A>G Single submitter
• c.5821-241C>T Single submitter
• c.5821-309G>A Single submitter
• c.5821-7dup Single submitter
• c.6049+162C>A Single submitter
• c.6049+229C>T Single submitter
• c.6049+248G>A Single submitter
• c.6253+166T>C Single submitter
• c.6712+19dup Single submitter
• c.6712+216C>T Single submitter
• c.7054+159A>T Single submitter
• c.7225-11dup Single submitter
• c.7362+262A>G Single submitter
• c.7363-7del Single submitter
• c.7482+8del Single submitter
• c.754-198C>T Single submitter
• c.754-217C>T Single submitter
• c.754-254T>C Single submitter
• c.7873-285C>T Single submitter
• c.8178+295_8178+296del Single submitter
• c.8178+316del Single submitter
• c.8178+316dup Single submitter
• c.8179-272G>A Single submitter
• c.832+248del Single submitter
• c.8723-259C>T Single submitter
• c.9077+11del Single submitter
• c.9078-183A>G Single submitter
• c.9319+22dup Single submitter
• c.9319+72_9319+73insTC Single submitter
• c.9380+140_9380+150dup Single submitter
• c.9634-3dup Single submitter
• c.9738+260G>T Single submitter
• c.9739-121G>C Single submitter
• c.9739-238AC[12] Single submitter
• c.9739-238AC[9] Single submitter
• c.9739-242C>T Single submitter
• c.9739-259del Single submitter
• c.9739-270AC[7] Single submitter
• c.9739-270AC[8] Single submitter
• c.-197GAGCGGC[5] Single submitter
• c.-35_-34insAGGCG Single submitter
• p.Asn772= Single submitter
• p.Asp796= Single submitter
• p.Ser2051= Single submitter
• p.Thr1999Ser Single submitter
• p.Val122= Single submitter