FRAS1 — 3481 ClinVar variants

All ClinVar germline FRAS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

159 Pathogenic · 37 Pathogenic/Likely pathogenic · 121 Likely pathogenic · 185 Conflicting · 120 Benign · 77 Benign/Likely benign · 1487 Likely benign · 1295 Uncertain significance

Full FRAS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All FRAS1 variants

Pathogenic 159

c.3563+1G>A Multiple submitters Fraser syndrome 1
c.7522+1G>T Multiple submitters Fraser syndrome 1
p.Ala1724fs Multiple submitters Fraser syndrome 1
p.Ala192fs Multiple submitters Fraser syndrome 1
p.Ala3061fs Multiple submitters Fraser syndrome 1
p.Arg1244Ter Multiple submitters Fraser syndrome 1
p.Arg124Ter Multiple submitters FRAS1-related disorder
p.Arg207Ter Multiple submitters Fraser syndrome 1
p.Arg2269Ter Multiple submitters Fraser syndrome 1
p.Arg3533Ter Multiple submitters FRAS1-related disorder
p.Arg385Ter Multiple submitters Fraser syndrome 1
p.Cys670Ter Multiple submitters Fraser syndrome 1
p.Gln1371Ter Multiple submitters Fraser syndrome 1
p.Gln188Ter Multiple submitters Fraser syndrome 1
p.Gln2149Ter Multiple submitters Fraser syndrome 1
p.Glu122fs Multiple submitters Fraser syndrome 1
p.Lys2336fs Multiple submitters
p.Ser793fs Multiple submitters Fraser syndrome 1
p.Tyr3209Ter Multiple submitters Fraser syndrome 1
p.Val1304fs Multiple submitters Fraser syndrome 1
c.10541-1G>A Single submitter Fraser syndrome 1
c.1399+1G>A Single submitter Fraser syndrome 1
c.3293-2A>T Single submitter Fraser syndrome 1
c.469+5G>T Single submitter
c.688-5T>G Single submitter Fraser syndrome 1
c.9316+2T>A Single submitter Fraser syndrome 1
p.Ala856_Cys857insTer Single submitter
p.Arg1651Ter Single submitter
p.Arg1712Ter Single submitter Fraser syndrome 1
p.Arg183Ter Single submitter Fraser syndrome 1
p.Arg1849fs Single submitter
p.Arg2020fs Single submitter
p.Arg2126fs Single submitter
p.Arg2623Ter Single submitter
p.Arg3099Ter Single submitter
p.Arg926fs Single submitter
p.Asn1978fs Single submitter
p.Asp1399fs Single submitter
p.Asp1890fs Single submitter
p.Asp1985fs Single submitter Fraser syndrome 1
p.Asp2975fs Single submitter Fraser syndrome 1
p.Asp32fs Single submitter
p.Cys3304Ter Single submitter
p.Cys338Ter Single submitter
p.Cys382_Glu383delinsTer Single submitter
p.Cys626fs Single submitter
p.Cys718fs Single submitter
p.Cys732fs Single submitter
p.Cys758fs Single submitter
p.Cys864fs Single submitter
p.Cys95Ter Single submitter Fraser syndrome 1
p.Gln1319fs Single submitter
p.Gln1347fs Single submitter
p.Gln1354Ter Single submitter
p.Gln1412Ter Single submitter
p.Gln1867Ter Single submitter
p.Gln195Ter Single submitter
p.Gln2010Ter Single submitter
p.Gln2100Ter Single submitter
p.Gln2244Ter Single submitter
p.Gln2323Ter Single submitter
p.Gln2583Ter Single submitter renal agenesis
p.Gln2868Ter Single submitter Fraser syndrome 1
p.Gln294Ter Single submitter
p.Gln3089fs Single submitter
p.Gln3089Ter Single submitter
p.Gln3551Ter Single submitter
p.Gln3720Ter Single submitter Fraser syndrome 1
p.Gln494fs Single submitter Fraser syndrome 1
p.Gln681Ter Single submitter
p.Glu1356fs Single submitter
p.Glu1624fs Single submitter Fraser syndrome 1
p.Glu1884Ter Single submitter
p.Glu2419fs Single submitter Fraser syndrome 1
p.Glu2482fs Single submitter
p.Glu2950fs Single submitter
p.Glu3156Ter Single submitter Fraser syndrome 1
p.Glu773Ter Single submitter
p.Glu853Ter Single submitter
p.Gly1133fs Single submitter
p.Gly1514fs Single submitter
p.Gly2513_Leu2514insTer Single submitter
p.Gly2700Ter Single submitter
p.Gly318fs Single submitter
p.His3305fs Single submitter
p.His898fs Single submitter Fraser syndrome 1
p.Ile1484fs Single submitter
p.Ile1906fs Single submitter Fraser syndrome 1
p.Ile2822fs Single submitter
p.Leu1713fs Single submitter
p.Leu1762fs Single submitter Fraser syndrome 1
p.Leu1762Ter Single submitter
p.Leu1966fs Single submitter
p.Leu2127fs Single submitter
p.Leu2656fs Single submitter
p.Leu3363Ter Single submitter
p.Leu739Ter Single submitter
p.Lys1186fs Single submitter
p.Lys1465Ter Single submitter
p.Lys2000fs Single submitter
p.Lys2068Ter Single submitter Fraser syndrome 1
p.Lys859fs Single submitter
p.Met1345fs Single submitter Fraser syndrome 1
p.Phe2189fs Single submitter
p.Phe305_Cys306insTer Single submitter
p.Phe3395fs Single submitter
p.Pro1374fs Single submitter
p.Pro1386fs Single submitter
p.Pro3195fs Single submitter
p.Pro3359fs Single submitter
p.Pro3560fs Single submitter
p.Pro3640fs Single submitter
p.Pro781fs Single submitter
p.Pro92fs Single submitter
p.Pro968_Leu969insTer Single submitter
p.Ser1124fs Single submitter
p.Ser1578fs Single submitter
p.Ser1979fs Single submitter
p.Ser2230fs Single submitter
p.Ser2799Ter Single submitter
p.Ser2977Ter Single submitter
p.Ser3256fs Single submitter
p.Ser359fs Single submitter
p.Ser3607Ter Single submitter Fraser syndrome 1
p.Ser546fs Single submitter
p.Ser567fs Single submitter
p.Ser994Ter Single submitter
p.Trp172Ter Single submitter Fraser syndrome 1
p.Trp3124Ter Single submitter
p.Trp3230Ter Single submitter
p.Trp374Ter Single submitter Fraser syndrome 1
p.Tyr2040fs Single submitter
p.Tyr2453Ter Single submitter
p.Tyr2562Ter Single submitter
p.Tyr293Ter Single submitter renal agenesis
p.Tyr3175Ter Single submitter Fraser syndrome 1
p.Tyr3327Ter Single submitter Fraser syndrome 1
p.Tyr3601Ter Single submitter
p.Tyr3610Ter Single submitter
p.Tyr3702Ter Single submitter
p.Tyr392fs Single submitter
p.Tyr392Ter Single submitter renal agenesis
p.Tyr459fs Single submitter
p.Val115fs Single submitter
p.Val1220fs Single submitter
p.Val1723fs Single submitter Fraser syndrome 1
p.Val3067fs Single submitter
p.Val3309fs Single submitter
p.Val931fs Single submitter
c.5664_5665+19delinsT No assertion criteria Fraser syndrome 1
p.Asn3967fs No assertion criteria Fraser syndrome 1
p.Gln1267Ter No assertion criteria Fraser syndrome 1
p.Gln3005Ter No assertion criteria Fraser syndrome 1
p.Glu2900Ter No assertion criteria FRAS1-related disorder
p.Leu1489fs No assertion criteria Fraser syndrome 1
p.Leu3428_Tyr3429insTer No assertion criteria Fraser syndrome 1
p.Lys3757fs No assertion criteria Fraser syndrome 1
p.Phe1807_Ser1808del No assertion criteria Fraser syndrome 1
p.Ser1424Ter No assertion criteria Fraser syndrome 1

Pathogenic/Likely pathogenic 37

c.11298+1G>A Multiple submitters FRAS1-related disorder
c.2722+1G>A Multiple submitters FRAS1-related disorder
c.8098+1G>T Multiple submitters Fraser syndrome 1
c.8098+2T>A Multiple submitters Inborn genetic diseases
p.Ala1859fs Multiple submitters Fraser syndrome
p.Ala387fs Multiple submitters Fraser syndrome 1
p.Arg1709Ter Multiple submitters Fraser syndrome 1
p.Arg2145Ter Multiple submitters Fraser syndrome 1
p.Arg2362Ter Multiple submitters Fraser syndrome 1
p.Arg2429Ter Multiple submitters
p.Arg250fs Multiple submitters Fraser syndrome 1
p.Arg3421Ter Multiple submitters Fraser syndrome 1
p.Arg3704Ter Multiple submitters Fraser syndrome 1
p.Cys1068_Asp1069delinsTer Multiple submitters Fraser syndrome 1
p.Gln128fs Multiple submitters Fraser syndrome 1
p.Gln1395Ter Multiple submitters Fraser syndrome 1
p.Gln312Ter Multiple submitters Fraser syndrome 1
p.Gln3825Ter Multiple submitters Fraser syndrome 1
p.Gln907Ter Multiple submitters Fraser syndrome 1
p.Glu330Ter Multiple submitters Fraser syndrome 1
p.Gly2004Ser Multiple submitters Fraser syndrome 1
p.Gly644fs Multiple submitters Fraser syndrome 1
p.Ile1976fs Multiple submitters Fraser syndrome 1
p.Ile78fs Multiple submitters FRAS1-related disorder
p.Leu1997fs Multiple submitters Fraser syndrome 1
p.Leu35fs Multiple submitters Fraser syndrome 1
p.Lys5Ter Multiple submitters Fraser syndrome 1
p.Lys630fs Multiple submitters Fraser syndrome 1
p.Pro3192fs Multiple submitters Fraser syndrome 1
p.Ser418Ter Multiple submitters Fraser syndrome 1
p.Trp1339Ter Multiple submitters FRAS1-related disorder
p.Trp1420Ter Multiple submitters Fraser syndrome 1
p.Trp449Ter Multiple submitters Fraser syndrome 1
p.Tyr1790Ter Multiple submitters Fraser syndrome 1
p.Tyr2517Ter Multiple submitters FRAS1-related disorder
p.Val2322fs Multiple submitters FRAS1-related disorder
p.Val2785fs Multiple submitters

Likely pathogenic 121

c.1072-1G>C Multiple submitters Fraser syndrome 1
c.3006_3010+7del Multiple submitters Fraser syndrome 1
c.310-1G>A Multiple submitters Fraser syndrome 1
c.3152-2A>G Multiple submitters Fraser syndrome 1
c.7522+2_7522+4del Multiple submitters
c.7851+1G>A Multiple submitters FRAS1-related disorder
c.8958+2T>C Multiple submitters FRAS1-related disorder
c.982-1G>A Multiple submitters Fraser syndrome 1
p.Arg3849fs Multiple submitters Fraser syndrome 1
p.Pro150fs Multiple submitters Fraser syndrome
c.10175-1G>A Single submitter
c.10389+2T>G Single submitter
c.1071+1G>A Single submitter Fraser syndrome 1
c.1071+1G>T Single submitter
c.108+2T>C Single submitter
c.10926-1G>A Single submitter
c.1108-2A>T Single submitter FRAS1-related disorder
c.11092+1G>A Single submitter Fraser syndrome 1
c.11445+5_11445+11delinsC Single submitter Fraser syndrome 1
c.1256-2A>G Single submitter
c.1678+1G>C Single submitter Fraser syndrome 1
c.1678+1G>T Single submitter Fraser syndrome 1
c.1960+2T>A Single submitter
c.2138-1G>C Single submitter Fraser syndrome 1
c.2575+2T>G Single submitter
c.2722+1G>T Single submitter Fraser syndrome 1
c.2869+1G>A Single submitter Fraser syndrome 1
c.309+1G>A Single submitter
c.3292+2T>G Single submitter Fraser syndrome 1
c.3649-3_3706del Single submitter
c.3975+1G>C Single submitter Fraser syndrome 1
c.3975+2T>C Single submitter
c.469+1G>A Single submitter
c.469+5G>C Single submitter Fraser syndrome 1
c.4711+2T>A Single submitter
c.4843+1G>T Single submitter
c.4844-1G>A Single submitter Fraser syndrome 1
c.4969+2T>G Single submitter
c.5218-1G>T Single submitter Fraser syndrome 1
c.5364_5366+2del Single submitter Fraser syndrome 1
c.5366+2T>G Single submitter
c.5857-5A>G Single submitter Fraser syndrome 1
c.6010+1G>T Single submitter Fraser syndrome 1
c.603+1G>A Single submitter
c.604-1G>C Single submitter Fraser syndrome 1
c.6111_6274+38del Single submitter
c.6275-1G>T Single submitter
c.6583+1G>C Single submitter
c.6584-1G>T Single submitter
c.6584-2A>G Single submitter
c.6764-2A>G Single submitter
c.6888+1G>A Single submitter Fraser syndrome 1
c.6889-2A>G Single submitter Fraser syndrome 1
c.7244_7257+6del Single submitter Fraser syndrome 1
c.7258-2A>G Single submitter Fraser syndrome 1
c.7371+1G>A Single submitter Fraser syndrome 1
c.7371+2T>C Single submitter
c.76+1G>A Single submitter
c.77-2A>G Single submitter
c.789+1G>A Single submitter
c.790-1G>A Single submitter
c.8604+5G>A Single submitter Fraser syndrome 1
c.8958+1G>A Single submitter Fraser syndrome 1
c.8959-2A>G Single submitter
c.9116-1G>A Single submitter
c.9316+1G>A Single submitter Fraser syndrome 1
c.981+2T>C Single submitter
c.982-2A>C Single submitter
c.982del Single submitter
p.Ala1792fs Single submitter Fraser syndrome 1
p.Ala2252fs Single submitter Fraser syndrome 1
p.Ala631fs Single submitter Fraser syndrome 1
p.Arg1351fs Single submitter Fraser syndrome 1
p.Arg3762Ter Single submitter FRAS1-related disorder
p.Arg926Ter Single submitter FRAS1-related disorder
p.Asp1899fs Single submitter Fraser syndrome 1
p.Cys130Ter Single submitter Fraser syndrome 1
p.Cys575Tyr Single submitter
p.Cys578fs Single submitter FRAS1-related disorder
p.Cys711Ter Single submitter
p.Cys894Ter Single submitter FRAS1-related disorder
p.Cys937Ter Single submitter Fraser syndrome 1
p.Gln1206Ter Single submitter Fraser syndrome 1
p.Gln1211Ter Single submitter Fraser syndrome 1
p.Gln128Ter Single submitter Fraser syndrome 1
p.Gln1325Ter Single submitter
p.Gln2088Ter Single submitter Fraser syndrome 1
p.Gln2507Ter Single submitter Fraser syndrome 1
p.Gln3586Ter Single submitter
p.Gln3620Ter Single submitter Fraser syndrome 1
p.Gln446Ter Single submitter Fraser syndrome 1
p.Gln746Ter Single submitter Fraser syndrome 1
p.Glu2812Ter Single submitter Fraser syndrome 1
p.Glu3817fs Single submitter Fraser syndrome 1
p.Gly3071Glu Single submitter FRAS1-related disorder
p.Gly548Ter Single submitter FRAS1-related disorder
p.His2995fs Single submitter Fraser syndrome 1
p.Ile1750fs Single submitter Fraser syndrome 1
p.Leu1226fs Single submitter
p.Leu969fs Single submitter FRAS1-related disorder
p.Met2115fs Single submitter Fraser syndrome 1
p.Phe1193fs Single submitter Fraser syndrome 1
p.Ser1936fs Single submitter Fraser syndrome 1
p.Ser2802fs Single submitter
p.Ser395fs Single submitter Fraser syndrome 1
p.Ser725fs Single submitter
p.Thr2163fs Single submitter Fraser syndrome
p.Thr3041_Ile3042insTer Single submitter Fraser syndrome 1
p.Thr3041fs Single submitter Fraser syndrome 1
p.Trp2552Ter Single submitter Fraser syndrome 1
p.Trp2684Ter Single submitter Fraser syndrome 1
p.Trp2835fs Single submitter Fraser syndrome 1
p.Tyr1541Ter Single submitter Fraser syndrome 1
p.Tyr1916His Single submitter Fraser syndrome 1
p.Tyr3691Ter Single submitter Fraser syndrome 1
p.Tyr3702fs Single submitter Fraser syndrome 1
p.Tyr780Ter Single submitter FRAS1-related disorder
p.Val2571fs Single submitter Fraser syndrome 1
p.Cys965Phe No assertion criteria Fraser syndrome 1
p.Gln411fs No assertion criteria Fraser syndrome 1
p.Val1333Ala No assertion criteria congenital anomaly of kidney and urinary tract

Conflicting classifications of pathogenicity 185

c.10390-6C>T Single submitter Fraser syndrome 1
c.10540+3A>G Single submitter Fraser syndrome 1
c.10648+13C>A Single submitter Fraser syndrome 1
c.108+10T>G Single submitter
c.10808+9A>G Single submitter Fraser syndrome 1
c.11299-8A>C Single submitter Fraser syndrome 1
c.11446-1G>A Single submitter Fraser syndrome
c.1256-12C>T Single submitter Fraser syndrome 1
c.1820-11C>T Single submitter Fraser syndrome 1
c.217-3C>T Single submitter
c.2575+7_2575+10del Single submitter Fraser syndrome 1
c.2870-5T>C Single submitter Fraser syndrome 1
c.3010+1G>A Single submitter Fraser syndrome 1
c.3010+9G>A Single submitter Fraser syndrome 1
c.310-5C>T Single submitter Fraser syndrome 1
c.3152-10T>C Single submitter Fraser syndrome 1
c.3648+12G>A Single submitter Fraser syndrome 1
c.3649-9A>C Single submitter Fraser syndrome 1
c.4679-9C>T Single submitter Fraser syndrome 1
c.4843+2T>C Single submitter Fraser syndrome
c.5218-9C>T Single submitter Fraser syndrome 1
c.6889-9C>G Single submitter Fraser syndrome 1
c.7029+7G>A Single submitter Fraser syndrome 1
c.7522+12C>G Single submitter Fraser syndrome 1
c.8443+8A>G Single submitter Fraser syndrome 1
c.8444-15T>C Single submitter Fraser syndrome 1
c.8605-7C>T Single submitter Fraser syndrome 1
c.8752+9T>C Single submitter Fraser syndrome 1
c.9504+8G>T Single submitter Fraser syndrome 1
c.9505-4G>A Single submitter Fraser syndrome 1
p.Ala1234Thr Single submitter Rieger anomaly
p.Ala13= Single submitter
p.Ala1387Leu Single submitter Fraser syndrome 1
p.Ala1387Ser Single submitter Fraser syndrome 1
p.Ala1387Val Single submitter Fraser syndrome 1
p.Ala141= Single submitter Fraser syndrome 1
p.Ala1455= Single submitter
p.Ala1792Thr Single submitter Fraser syndrome 1
p.Ala223Thr Single submitter Fraser syndrome 1
p.Ala3210= Single submitter Fraser syndrome 1
p.Ala3210Thr Single submitter Inborn genetic diseases
p.Ala3894= Single submitter Fraser syndrome 1
p.Ala3894Val Single submitter Fraser syndrome 1
p.Ala3939Thr Single submitter Inborn genetic diseases
p.Ala3984Val Single submitter Fraser syndrome 1
p.Ala661Val Single submitter Inborn genetic diseases
p.Ala713Pro Single submitter Fraser syndrome 1
p.Ala79= Single submitter
p.Ala986Thr Single submitter Fraser syndrome 1
p.Arg1064Leu Single submitter Fraser syndrome 1
p.Arg1446His Single submitter Inborn genetic diseases
p.Arg1519= Single submitter Fraser syndrome 1
p.Arg1527Gln Single submitter Fraser syndrome 1
p.Arg1527Trp Single submitter Inborn genetic diseases
p.Arg1603Trp Single submitter Inborn genetic diseases
p.Arg176Gln Single submitter Fraser syndrome 1
p.Arg2096Cys Single submitter Fraser syndrome 1
p.Arg2096His Single submitter Inborn genetic diseases
p.Arg2398Trp Single submitter Inborn genetic diseases
p.Arg2429Gln Single submitter Inborn genetic diseases
p.Arg2525Cys Single submitter orofacial cleft 1
p.Arg2525His Single submitter Inborn genetic diseases
p.Arg2781Cys Single submitter Fraser syndrome 1
p.Arg3099Gln Single submitter Inborn genetic diseases
p.Arg3122Trp Single submitter Inborn genetic diseases
p.Arg327Gln Single submitter Inborn genetic diseases
p.Arg3412Cys Single submitter
p.Arg367His Single submitter Inborn genetic diseases
p.Arg3852Ter Single submitter Fraser syndrome 1
p.Arg3961Trp Single submitter Fraser syndrome 1
p.Arg640Cys Single submitter Fraser syndrome 1
p.Asn2541Ser Single submitter Fraser syndrome 1
p.Asn2641= Single submitter Fraser syndrome 1
p.Asn2668= Single submitter Fraser syndrome 1
p.Asn2805Ser Single submitter Inborn genetic diseases
p.Asn3119Ser Single submitter
p.Asn3769Ser Single submitter Fraser syndrome 1
p.Asn3879= Single submitter Fraser syndrome 1
p.Asn3965= Single submitter Fraser syndrome 1
p.Asn3975= Single submitter Fraser syndrome 1
p.Asn65= Single submitter Fraser syndrome 1
p.Asp1172Asn Single submitter Inborn genetic diseases
p.Asp1682Glu Single submitter Fraser syndrome 1
p.Asp2292= Single submitter
p.Asp295= Single submitter Fraser syndrome 1
p.Asp501= Single submitter
p.Cys776= Single submitter Fraser syndrome 1
p.Cys857Phe Single submitter Fraser syndrome 1
p.Gln128= Single submitter Fraser syndrome 1
p.Gln1319= Single submitter Fraser syndrome 1
p.Gln1485His Single submitter Inborn genetic diseases
p.Gln167= Single submitter Fraser syndrome 1
p.Gln2228= Single submitter Fraser syndrome 1
p.Gln2242= Single submitter Fraser syndrome 1
p.Gln3623= Single submitter Fraser syndrome 1
p.Gln945= Single submitter Fraser syndrome 1
p.Glu2195Gly Single submitter Inborn genetic diseases
p.Glu229Lys Single submitter Inborn genetic diseases
p.Glu2345= Single submitter Fraser syndrome 1
p.Glu2345Lys Single submitter Inborn genetic diseases
p.Glu2765= Single submitter Fraser syndrome 1
p.Glu2900Lys Single submitter Fraser syndrome 1
p.Glu330= Single submitter
p.Glu393Lys Single submitter Fraser syndrome 1
p.Gly1394Ala Single submitter Fraser syndrome 1
p.Gly2735= Single submitter Fraser syndrome 1
p.Gly3185Arg Single submitter Inborn genetic diseases
p.Gly3880= Single submitter Fraser syndrome 1
p.Gly457= Single submitter Fraser syndrome 1
p.Gly595Ser Single submitter Fraser syndrome 1
p.His2995= Single submitter Fraser syndrome 1
p.His3347Gln Single submitter Fraser syndrome 1
p.His3376= Single submitter
p.His3758Gln Single submitter Fraser syndrome 1
p.His3969Gln Single submitter Fraser syndrome 1
p.His811= Single submitter Fraser syndrome 1
p.Ile1365= Single submitter Fraser syndrome 1
p.Ile1366= Single submitter
p.Ile1871Val Single submitter Inborn genetic diseases
p.Ile2144Val Single submitter Fraser syndrome 1
p.Ile3532Val Single submitter Fraser syndrome 1
p.Ile3743Val Single submitter Inborn genetic diseases
p.Ile3863= Single submitter Fraser syndrome 1
p.Ile3869Val Single submitter Fraser syndrome 1
p.Ile3906Thr Single submitter Fraser syndrome 1
p.Leu1550Phe Single submitter Fraser syndrome 1
p.Leu1561Pro Single submitter Fraser syndrome 1
p.Leu3510= Single submitter
p.Leu3918= Single submitter Fraser syndrome 1
p.Lys1022Thr Single submitter Inborn genetic diseases
p.Lys1189= Single submitter Fraser syndrome 1
p.Lys2681= Single submitter Fraser syndrome 1
p.Lys3097= Single submitter Fraser syndrome 1
p.Lys3937= Single submitter Fraser syndrome 1
p.Met1540Val Single submitter Fraser syndrome 1
p.Met1825Arg Single submitter Fraser syndrome 1
p.Phe3565= Single submitter Fraser syndrome 1
p.Pro150= Single submitter Fraser syndrome 1
p.Pro1545Leu Single submitter Fraser syndrome 1
p.Pro1579= Single submitter Fraser syndrome 1
p.Pro214Leu Single submitter Fraser syndrome 1
p.Pro2427Gln Single submitter Inborn genetic diseases
p.Pro2820= Single submitter Fraser syndrome 1
p.Pro2881= Single submitter Fraser syndrome 1
p.Pro3413Ser Single submitter
p.Pro3755Leu Single submitter Fraser syndrome 1
p.Pro378His Single submitter Fraser syndrome 1
p.Ser1449Ile Single submitter Fraser syndrome 1
p.Ser2190Phe Single submitter Fraser syndrome 1
p.Ser2311Leu Single submitter Inborn genetic diseases
p.Ser2761= Single submitter FRAS1-related disorder
p.Ser2948= Single submitter Fraser syndrome 1
p.Ser3391Pro Single submitter
p.Ser999Leu Single submitter Inborn genetic diseases
p.Thr2484Met Single submitter Fraser syndrome 1
p.Thr2574= Single submitter Fraser syndrome 1
p.Thr2670= Single submitter Fraser syndrome 1
p.Thr2871= Single submitter Fraser syndrome 1
p.Thr2980= Single submitter Fraser syndrome 1
p.Thr3149= Single submitter Fraser syndrome 1
p.Thr3149Met Single submitter Fraser syndrome 1
p.Thr3618Ala Single submitter Fraser syndrome 1
p.Thr3728= Single submitter Fraser syndrome 1
p.Thr3987Met Single submitter Inborn genetic diseases
p.Thr866= Single submitter Fraser syndrome 1
p.Thr954Met Single submitter Fraser syndrome 1
p.Tyr2711His Single submitter congenital anomaly of kidney and urinary tract
p.Tyr2949Phe Single submitter Inborn genetic diseases
p.Tyr3209= Single submitter Fraser syndrome 1
p.Tyr850= Single submitter Fraser syndrome 1
p.Val1466Leu Single submitter Inborn genetic diseases
p.Val1619= Single submitter
p.Val2347Phe Single submitter Fraser syndrome 1
p.Val2638Met Single submitter Inborn genetic diseases
p.Val3145= Single submitter Fraser syndrome 1
p.Val3150= Single submitter
p.Val3197Ile Single submitter Inborn genetic diseases
p.Val323= Single submitter Fraser syndrome 1
p.Val3273= Single submitter Fraser syndrome 1
p.Val3276Ala Single submitter Fraser syndrome 1
p.Val3476= Single submitter Fraser syndrome 1
p.Val3773Leu Single submitter Inborn genetic diseases
p.Val537Met Single submitter Inborn genetic diseases
p.Val883Met Single submitter Fraser syndrome 1
p.Val988Met Single submitter Inborn genetic diseases

Benign 120

c.10389+11C>T Multiple submitters Fraser syndrome 1
c.10648+25del Multiple submitters Fraser syndrome 1
c.10649-29T>A Multiple submitters Fraser syndrome 1
c.2575+15G>A Multiple submitters Fraser syndrome 1
c.3151+14_3151+15dup Multiple submitters Fraser syndrome 1
c.3976-20G>A Multiple submitters
c.470-35T>C Multiple submitters Fraser syndrome 1
c.470-4C>G Multiple submitters Fraser syndrome 1
c.5366+13T>G Multiple submitters Fraser syndrome 1
c.6010+10G>A Multiple submitters Fraser syndrome 1
c.6010+13C>T Multiple submitters Fraser syndrome 1
c.6010+8A>G Multiple submitters Fraser syndrome 1
c.604-8G>A Multiple submitters Fraser syndrome 1
c.688-13T>C Multiple submitters Fraser syndrome 1
c.7371+11T>C Multiple submitters Fraser syndrome 1
c.76+19GT[10] Multiple submitters
c.8959-11A>G Multiple submitters Fraser syndrome 1
c.9116-11T>C Multiple submitters Fraser syndrome 1
c.9116-5C>G Multiple submitters Fraser syndrome 1
c.9116-6C>T Multiple submitters Fraser syndrome 1
c.981+9C>T Multiple submitters Fraser syndrome 1
c.-23C>T Multiple submitters Fraser syndrome 1
c.-65T>C Multiple submitters Fraser syndrome 1
c.*1301G>A Multiple submitters Fraser syndrome 1
c.*1814G>A Multiple submitters Fraser syndrome 1
c.*1995G>T Multiple submitters Fraser syndrome 1
c.*2154C>T Multiple submitters Fraser syndrome 1
c.*2489T>C Multiple submitters Fraser syndrome 1
c.*2700G>A Multiple submitters Fraser syndrome 1
c.*282A>T Multiple submitters Fraser syndrome 1
c.*33T>A Multiple submitters Fraser syndrome 1
c.*388C>G Multiple submitters Fraser syndrome 1
c.*78G>T Multiple submitters Fraser syndrome 1
p.Ala2252Thr Multiple submitters Fraser syndrome 1
p.Ala2337= Multiple submitters Fraser syndrome 1
p.Arg173Gln Multiple submitters Fraser syndrome 1
p.Arg3084= Multiple submitters Fraser syndrome 1
p.Arg3533Gln Multiple submitters Fraser syndrome 1
p.Arg539= Multiple submitters Fraser syndrome 1
p.Asn2084= Multiple submitters Fraser syndrome 1
p.Asp1137Asn Multiple submitters
p.Asp2545Asn Multiple submitters Fraser syndrome 1
p.Asp2813= Multiple submitters Fraser syndrome 1
p.Asp32Gly Multiple submitters Fraser syndrome 1
p.Asp54His Multiple submitters Fraser syndrome 1
p.Asp687Gly Multiple submitters Fraser syndrome 1
p.Gln3319Glu Multiple submitters Fraser syndrome 1
p.Glu103Val Multiple submitters Fraser syndrome 1
p.Glu1136Lys Multiple submitters Fraser syndrome 1
p.Glu3334= Multiple submitters Fraser syndrome 1
p.Glu3561Asp Multiple submitters Fraser syndrome 1
p.Gly2231Arg Multiple submitters Fraser syndrome 1
p.His2156= Multiple submitters Fraser syndrome 1
p.His2370= Multiple submitters Fraser syndrome 1
p.His649= Multiple submitters Fraser syndrome 1
p.Ile243Val Multiple submitters Fraser syndrome 1
p.Ile2586= Multiple submitters Fraser syndrome 1
p.Ile3426= Multiple submitters Fraser syndrome 1
p.Ile710Leu Multiple submitters Fraser syndrome 1
p.Leu1736= Multiple submitters Fraser syndrome 1
p.Leu3686= Multiple submitters Fraser syndrome 1
p.Leu466Ile Multiple submitters Fraser syndrome 1
p.Lys2378Glu Multiple submitters Fraser syndrome 1
p.Lys2418= Multiple submitters Fraser syndrome 1
p.Lys2567= Multiple submitters Fraser syndrome 1
p.Phe2915= Multiple submitters Fraser syndrome 1
p.Pro127Arg Multiple submitters Fraser syndrome 1
p.Pro1545= Multiple submitters Fraser syndrome 1
p.Pro2042Ser Multiple submitters Fraser syndrome 1
p.Pro209Ser Multiple submitters Fraser syndrome 1
p.Pro3253= Multiple submitters Fraser syndrome 1
p.Pro771= Multiple submitters Fraser syndrome 1
p.Ser1104= Multiple submitters Fraser syndrome 1
p.Ser2013= Multiple submitters Fraser syndrome 1
p.Ser429Tyr Multiple submitters Fraser syndrome 1
p.Thr2148= Multiple submitters Fraser syndrome 1
p.Thr2203Ile Multiple submitters Fraser syndrome 1
p.Thr2806Met Multiple submitters Fraser syndrome 1
p.Thr3459= Multiple submitters Fraser syndrome 1
p.Thr887Ser Multiple submitters Fraser syndrome 1
p.Tyr228His Multiple submitters Fraser syndrome 1
p.Tyr3385Asp Multiple submitters Fraser syndrome 1
p.Val2308= Multiple submitters Fraser syndrome 1
p.Val3566Ile Multiple submitters Fraser syndrome 1
p.Val3626Ala Multiple submitters Fraser syndrome 1
c.10014-4del Single submitter
c.10014-9del Single submitter
c.10648+15del Single submitter
c.10648+24_10648+25dup Single submitter
c.108+2546T>C Single submitter Fraser syndrome 1
c.10808+19G>A Single submitter
c.1107+13T>C Single submitter
c.1108-7dup Single submitter
c.11299-13del Single submitter
c.11445+68_11445+69del Single submitter Fraser syndrome 1
c.2423-13del Single submitter
c.2423-6del Single submitter
c.2870-3del Single submitter
c.5367-5dup Single submitter
c.604-132G>A Single submitter Fraser syndrome 1
c.6464-12dup Single submitter
c.76+19GT[11] Single submitter
c.77-9del Single submitter
c.9116-5C>A Single submitter
c.9116-6_9116-5delinsTG Single submitter
c.9781-12del Single submitter
c.-257G>T Single submitter Fraser syndrome 1
c.*1289G>A Single submitter Fraser syndrome 1
c.*2370G>A Single submitter Fraser syndrome 1
c.*258G>A Single submitter Fraser syndrome 1
c.*2811T>A Single submitter Fraser syndrome 1
c.*3092A>G Single submitter Fraser syndrome 1
c.*503T>C Single submitter Fraser syndrome 1
c.*708C>A Single submitter Fraser syndrome 1
c.*709G>A Single submitter Fraser syndrome 1
c.*731C>G Single submitter Fraser syndrome 1
c.*751T>G Single submitter Fraser syndrome 1
c.*808C>T Single submitter Fraser syndrome 1
p.Ala1355= Single submitter
p.Tyr1758= Single submitter

Benign/Likely benign 77

c.10390-18A>T Multiple submitters Fraser syndrome 1
c.10648+24_10648+25del Multiple submitters
c.10649-18T>C Multiple submitters Fraser syndrome 1
c.1072-5C>T Multiple submitters Fraser syndrome 1
c.109-15del Multiple submitters
c.1108-12T>G Multiple submitters Fraser syndrome 1
c.1255+10T>C Multiple submitters Fraser syndrome 1
c.1534+19A>G Multiple submitters Fraser syndrome 1
c.1535-4G>A Multiple submitters
c.1820-11C>G Multiple submitters Fraser syndrome 1
c.2575+20A>C Multiple submitters
c.3010+14_3010+29del Multiple submitters Fraser syndrome 1
c.4308+10G>T Multiple submitters Fraser syndrome 1
c.4711+16A>C Multiple submitters
c.4969+19A>T Multiple submitters Fraser syndrome 1
c.4969+9A>C Multiple submitters Fraser syndrome 1
c.5218-20C>A Multiple submitters
c.5665+18A>T Multiple submitters
c.603+19G>A Multiple submitters
c.6763+12A>G Multiple submitters Fraser syndrome 1
c.687+20A>G Multiple submitters Fraser syndrome 1
c.7029+9A>C Multiple submitters Fraser syndrome 1
c.76+19GT[7] Multiple submitters
c.76+19GT[9] Multiple submitters
c.789+12T>G Multiple submitters Fraser syndrome 1
c.790-20C>T Multiple submitters Fraser syndrome 1
c.9316+15A>G Multiple submitters
p.Ala1042Thr Multiple submitters Fraser syndrome 1
p.Ala1626Val Multiple submitters
p.Ala2739Thr Multiple submitters Fraser syndrome 1
p.Ala817Val Multiple submitters Fraser syndrome 1
p.Ala986= Multiple submitters
p.Arg3269Gln Multiple submitters Fraser syndrome 1
p.Arg327Trp Multiple submitters Fraser syndrome 1
p.Asp3960= Multiple submitters
p.Cys472= Multiple submitters Fraser syndrome 1
p.Gln2551Arg Multiple submitters Fraser syndrome 1
p.Gln67= Multiple submitters Fraser syndrome 1
p.Glu1552= Multiple submitters
p.Gly1023Glu Multiple submitters Fraser syndrome 1
p.Gly1377= Multiple submitters
p.Gly2358= Multiple submitters Fraser syndrome 1
p.Gly3907Val Multiple submitters Fraser syndrome 1
p.His2101Tyr Multiple submitters Fraser syndrome 1
p.His3285Tyr Multiple submitters Fraser syndrome 1
p.His3475= Multiple submitters Fraser syndrome 1
p.Ile2351= Multiple submitters Fraser syndrome 1
p.Ile3906= Multiple submitters Fraser syndrome 1
p.Leu1381= Multiple submitters Fraser syndrome 1
p.Leu1983= Multiple submitters Fraser syndrome 1
p.Leu259Arg Multiple submitters Usher syndrome type 2C
p.Leu3387Pro Multiple submitters Fraser syndrome 1
p.Leu3899= Multiple submitters Fraser syndrome 1
p.Leu538= Multiple submitters
p.Lys2858= Multiple submitters Fraser syndrome 1
p.Met590Thr Multiple submitters Fraser syndrome 1
p.Pro1653= Multiple submitters Fraser syndrome 1
p.Pro1653Leu Multiple submitters
p.Pro2313= Multiple submitters Fraser syndrome 1
p.Pro3336= Multiple submitters Fraser syndrome 1
p.Pro3359= Multiple submitters Fraser syndrome 1
p.Pro570= Multiple submitters Fraser syndrome 1
p.Ser2829Tyr Multiple submitters Fraser syndrome 1
p.Ser2944= Multiple submitters Fraser syndrome 1
p.Ser3908= Multiple submitters Fraser syndrome 1
p.Ser545= Multiple submitters Fraser syndrome 1
p.Ter4013= Multiple submitters
p.Thr1612Ala Multiple submitters Inborn genetic diseases
p.Thr1647Ile Multiple submitters Fraser syndrome 1
p.Thr2991= Multiple submitters
p.Thr3076= Multiple submitters Fraser syndrome 1
p.Thr3383= Multiple submitters
p.Thr3513= Multiple submitters Fraser syndrome 1
p.Tyr3410= Multiple submitters Fraser syndrome 1
p.Val2177Ala Multiple submitters Fraser syndrome 1
p.Val3438Met Multiple submitters
p.Val3952Ala Multiple submitters

Likely benign 1487

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

c.10014-14del Multiple submitters
c.10389+17T>G Multiple submitters
c.10540+15G>A Multiple submitters Fraser syndrome 1
c.10540+18_10540+31del Multiple submitters
c.10808+17A>C Multiple submitters
c.11446-10C>T Multiple submitters
c.1960+18A>G Multiple submitters
c.2138-3dup Multiple submitters
c.309+20C>T Multiple submitters
c.3648+15C>T Multiple submitters
c.4129+20G>A Multiple submitters
c.4679-13C>T Multiple submitters
c.5218-16dup Multiple submitters
c.5666-12A>T Multiple submitters
c.7029+14T>C Multiple submitters
c.76+19_76+20insCGTG Multiple submitters
c.76+19GT[12] Multiple submitters
c.76+19GT[14] Multiple submitters
c.76+24_76+41del Multiple submitters
c.8443+12T>G Multiple submitters
c.9317-4G>A Multiple submitters Fraser syndrome 1
c.9317-5C>T Multiple submitters
p.Ala2477= Multiple submitters Fraser syndrome 1
p.Ala2924= Multiple submitters
p.Ala3904= Multiple submitters
p.Arg269Gln Multiple submitters Inborn genetic diseases
p.Arg3957= Multiple submitters Fraser syndrome 1
p.Asn1955= Multiple submitters
p.Asn2686= Multiple submitters Fraser syndrome 1
p.Asn3433= Multiple submitters
p.Asp2390= Multiple submitters
p.Asp2529Asn Multiple submitters
p.Asp2876= Multiple submitters
p.Asp566= Multiple submitters
p.Asp687= Multiple submitters
p.Cys261= Multiple submitters Fraser syndrome 1
p.Cys3437= Multiple submitters
p.Cys875= Multiple submitters Fraser syndrome 1
p.Cys942= Multiple submitters Fraser syndrome 1
p.Gln1639= Multiple submitters
p.Gln983= Multiple submitters
p.Glu2278= Multiple submitters Fraser syndrome 1
p.Glu2970= Multiple submitters
p.Gly556= Multiple submitters
p.Ile1454= Multiple submitters Fraser syndrome 1
p.Ile3110= Multiple submitters Fraser syndrome 1
p.Ile690= Multiple submitters Fraser syndrome 1
p.Leu1670= Multiple submitters Fraser syndrome 1
p.Leu2448= Multiple submitters Fraser syndrome 1
p.Leu3726= Multiple submitters
p.Leu3868= Multiple submitters
p.Lys3692= Multiple submitters
p.Lys409= Multiple submitters
p.Pro127= Multiple submitters
p.Pro2143= Multiple submitters
p.Pro3235= Multiple submitters Fraser syndrome 1
p.Pro3959= Multiple submitters
p.Pro665= Multiple submitters
p.Ser1300= Multiple submitters Inborn genetic diseases
p.Ser266= Multiple submitters
p.Ser2688= Multiple submitters Fraser syndrome 1
p.Ser2799= Multiple submitters Fraser syndrome 1
p.Ser360= Multiple submitters
p.Ser572= Multiple submitters Fraser syndrome 1
p.Thr889= Multiple submitters
p.Tyr1738= Multiple submitters Fraser syndrome 1
p.Tyr2993= Multiple submitters
p.Val1220= Multiple submitters
p.Val1419= Multiple submitters
p.Val2314= Multiple submitters
p.Val3773= Multiple submitters
p.Val682= Multiple submitters
c.10013+15G>A Single submitter
c.10013+15G>T Single submitter
c.10013+20C>T Single submitter
c.10013+21del Single submitter
c.10014-12T>A Single submitter
c.10014-13T>C Single submitter
c.10014-19T>A Single submitter
c.10174+10A>T Single submitter
c.10174+11C>A Single submitter
c.10175-12C>T Single submitter
c.10175-18T>A Single submitter
c.10175-19G>A Single submitter
c.10175-19G>C Single submitter
c.10175-6T>C Single submitter
c.10389+12G>A Single submitter
c.10389+13G>A Single submitter
c.10389+15G>A Single submitter
c.10389+16C>A Single submitter
c.10389+18T>C Single submitter
c.10389+8C>T Single submitter
c.10390-13G>A Single submitter
c.10390-8C>T Single submitter
c.10540+14C>T Single submitter
c.10540+9A>G Single submitter
c.10541-15T>G Single submitter
c.10541-16C>G Single submitter
c.10541-18_10541-15del Single submitter
c.10541-18C>T Single submitter
c.10541-19T>C Single submitter
c.10541-9C>G Single submitter
c.10648+14C>T Single submitter
c.10648+15G>A Single submitter
c.10648+16T>A Single submitter
c.10648+16T>G Single submitter
c.10648+20T>C Single submitter
c.10648+20T>G Single submitter
c.10648+25dup Single submitter
c.10648+7T>A Single submitter
c.10649-17_10649-16del Single submitter
c.1071+11G>A Single submitter
c.1071+16A>C Single submitter
c.1071+8T>C Single submitter
c.1071+9C>T Single submitter
c.1072-19del Single submitter
c.108+13T>A Single submitter
c.108+17A>C Single submitter
c.108+18T>C Single submitter
c.108+7C>T Single submitter
c.108+8A>G Single submitter
c.10808+13A>T Single submitter
c.10808+19G>T Single submitter
c.10808+20C>T Single submitter
c.10809-10A>G Single submitter
c.10809-17G>A Single submitter
c.109-20G>C Single submitter
c.109-8C>G Single submitter
c.10925+12T>C Single submitter
c.10925+12T>G Single submitter
c.10925+18A>G Single submitter
c.10926-11del Single submitter
c.10926-6A>G Single submitter
c.1107+10G>A Single submitter
c.1107+12T>A Single submitter
c.1107+19C>T Single submitter
c.1107+8T>A Single submitter
c.1108-10T>C Single submitter
c.1108-13C>T Single submitter
c.1108-14A>G Single submitter
c.1108-18C>T Single submitter
c.1108-4G>A Single submitter
c.1108-4G>C Single submitter
c.1108-4G>T Single submitter
c.1108-5C>T Single submitter
c.11092+15C>T Single submitter
c.11092+18C>T Single submitter
c.11092+19C>G Single submitter
c.11092+20T>A Single submitter
c.11092+9C>G Single submitter
c.11093-16C>T Single submitter
c.11093-8C>T Single submitter
c.11298+13C>T Single submitter
c.11298+14T>C Single submitter
c.11298+16A>G Single submitter
c.11298+17C>G Single submitter
c.11298+18T>A Single submitter
c.11298+18T>G Single submitter
c.11298+19A>G Single submitter
c.11298+23_11298+28del Single submitter
c.11299-13T>C Single submitter
c.11299-5C>A Single submitter
c.11299-7A>C Single submitter
c.11445+11T>C Single submitter
c.11445+17_11445+19del Single submitter
c.11445+7T>C Single submitter
c.11446-10C>A Single submitter
c.11446-10C>G Single submitter
c.11446-11T>A Single submitter
c.11446-13del Single submitter
c.11446-18C>T Single submitter
c.11446-4G>C Single submitter
c.11446-6C>T Single submitter
c.11446-7C>T Single submitter
c.11446-8C>G Single submitter
c.1255+11G>A Single submitter
c.1255+13C>A Single submitter
c.1255+15C>G Single submitter
c.1255+18_1255+19del Single submitter
c.1255+20G>A Single submitter
c.1255+9A>G Single submitter
c.1256-11C>A Single submitter
c.1256-18C>G Single submitter
c.1256-7A>G Single submitter
c.1256-9T>G Single submitter
c.1399+13G>A Single submitter
c.1400-11T>C Single submitter
c.1400-6A>G Single submitter
c.1534+11G>C Single submitter
c.1534+11G>T Single submitter
c.1534+16G>A Single submitter
c.1534+16G>T Single submitter
c.1534+18C>G Single submitter
c.1534+8_1534+9del Single submitter
c.1534+8C>G Single submitter
c.1535-12A>C Single submitter
c.1535-5T>C Single submitter
c.1535-8G>A Single submitter
c.1535-8G>C Single submitter
c.1678+12G>A Single submitter
c.1678+14T>A Single submitter
c.1678+14T>C Single submitter
c.1678+16C>T Single submitter
c.1678+17G>A Single submitter
c.1678+17G>C Single submitter
c.1678+18A>G Single submitter
c.1678+18A>T Single submitter
c.1679-10C>T Single submitter
c.1679-19G>T Single submitter
c.1679-7C>A Single submitter
c.1819+15A>G Single submitter
c.1819+16C>A Single submitter
c.1819+17CAT[3] Single submitter
c.1819+17CAT[5] Single submitter
c.1819+18A>G Single submitter
c.1820-16_1820-15del Single submitter
c.1820-17C>T Single submitter
c.1820-19C>G Single submitter
c.1820-20C>A Single submitter
c.1820-8T>C Single submitter
c.1820-9C>T Single submitter
c.1960+10G>A Single submitter
c.1960+11T>C Single submitter
c.1960+15A>G Single submitter
c.1960+19T>A Single submitter
c.1961-16T>C Single submitter
c.1961-8A>G Single submitter
c.2137+16G>A Single submitter
c.2137+9G>T Single submitter
c.2138-13A>G Single submitter
c.2138-17C>T Single submitter
c.2138-4C>T Single submitter
c.2138-5C>G Single submitter
c.2138-5C>T Single submitter
c.2138-6C>T Single submitter
c.2138-9T>C Single submitter
c.216+10C>A Single submitter
c.216+13A>G Single submitter
c.216+15T>C Single submitter
c.217-18C>A Single submitter
c.217-18C>T Single submitter
c.2278+13T>C Single submitter
c.2278+14G>A Single submitter
c.2278+17C>T Single submitter
c.2278+18T>C Single submitter
c.2278+19G>C Single submitter
c.2278+20A>C Single submitter
c.2278+20A>T Single submitter
c.2279-11C>A Single submitter
c.2279-12T>C Single submitter
c.2279-13G>A Single submitter
c.2279-14C>T Single submitter
c.2279-5G>A Single submitter
c.2279-9C>T Single submitter
c.2422+15dup Single submitter
c.2423-13C>T Single submitter
c.2423-15C>T Single submitter
c.2423-19G>C Single submitter
c.2423-4C>T Single submitter
c.2423-7C>T Single submitter
c.2575+10T>A Single submitter
c.2575+14G>T Single submitter
c.2575+15G>T Single submitter
c.2576-15C>G Single submitter
c.2576-17C>T Single submitter
c.2576-18T>C Single submitter
c.2722+10T>C Single submitter
c.2722+15T>A Single submitter
c.2722+15T>C Single submitter
c.2722+17A>G Single submitter
c.2723-13C>G Single submitter
c.2723-18C>A Single submitter
c.2723-3C>T Single submitter
c.2723-8C>T Single submitter
c.2869+10T>C Single submitter
c.2869+11T>A Single submitter
c.2869+18T>C Single submitter
c.2870-17G>C Single submitter
c.2870-18T>C Single submitter
c.3010+18C>A Single submitter
c.3010+20G>T Single submitter
c.3010+7G>A Single submitter
c.3010+9G>T Single submitter
c.3011-14_3011-13insAAA Single submitter
c.3011-14C>T Single submitter
c.3011-16_3011-12del Single submitter
c.3011-20A>C Single submitter
c.3011-4T>A Single submitter
c.3011-8T>C Single submitter
c.309+11T>C Single submitter
c.309+13T>C Single submitter
c.309+15A>T Single submitter
c.309+18C>T Single submitter
c.309+19A>G Single submitter
c.309+8T>C Single submitter
c.309+9T>C Single submitter
c.310-11C>T Single submitter
c.310-12C>T Single submitter
c.310-14T>G Single submitter
c.310-16T>C Single submitter

Uncertain significance 1295

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

c.10648+4A>G Multiple submitters Fraser syndrome 1
c.1960+5C>T Multiple submitters Fraser syndrome 1
c.3293-10T>C Multiple submitters
c.4678+5T>C Multiple submitters Fraser syndrome 1
c.7030-3C>G Multiple submitters Fraser syndrome 1
c.7030-6G>A Multiple submitters Fraser syndrome 1
c.8958+4A>G Multiple submitters Fraser syndrome 1
c.-18G>T Multiple submitters Fraser syndrome 1
p.Ala1455Val Multiple submitters Fraser syndrome 1
p.Ala1669Val Multiple submitters Fraser syndrome 1
p.Ala1839Val Multiple submitters Inborn genetic diseases
p.Ala1876Val Multiple submitters Fraser syndrome 1
p.Ala2225Ser Multiple submitters Inborn genetic diseases
p.Ala2337Thr Multiple submitters Inborn genetic diseases
p.Ala2477Thr Multiple submitters Inborn genetic diseases
p.Ala2477Val Multiple submitters Fraser syndrome 1
p.Ala2596Thr Multiple submitters Fraser syndrome 1
p.Ala2663Thr Multiple submitters Fraser syndrome 1
p.Ala2689Thr Multiple submitters Inborn genetic diseases
p.Ala2702Gly Multiple submitters Inborn genetic diseases
p.Ala2776Thr Multiple submitters Inborn genetic diseases
p.Ala2780Val Multiple submitters Fraser syndrome 1
p.Ala2814Thr Multiple submitters Fraser syndrome 1
p.Ala3055Thr Multiple submitters Inborn genetic diseases
p.Ala3061Val Multiple submitters Fraser syndrome 1
p.Ala3460Thr Multiple submitters Inborn genetic diseases
p.Ala3585Thr Multiple submitters Fraser syndrome 1
p.Ala3597Gly Multiple submitters Inborn genetic diseases
p.Ala362Ser Multiple submitters Inborn genetic diseases
p.Ala3637Pro Multiple submitters Inborn genetic diseases
p.Ala3897Val Multiple submitters Fraser syndrome 1
p.Ala3909Val Multiple submitters Inborn genetic diseases
p.Ala599Val Multiple submitters Fraser syndrome 1
p.Ala713Thr Multiple submitters Fraser syndrome 1
p.Ala943Thr Multiple submitters Inborn genetic diseases
p.Ala964Val Multiple submitters Fraser syndrome 1
p.Arg1020Cys Multiple submitters FRAS1-related disorder
p.Arg1020His Multiple submitters
p.Arg1064Cys Multiple submitters Fraser syndrome 1
p.Arg124Gln Multiple submitters Fraser syndrome 1
p.Arg1434Cys Multiple submitters Inborn genetic diseases
p.Arg1434His Multiple submitters Inborn genetic diseases
p.Arg1519Trp Multiple submitters Inborn genetic diseases
p.Arg1542His Multiple submitters Fraser syndrome 1
p.Arg1603Gln Multiple submitters Fraser syndrome 1
p.Arg1635Trp Multiple submitters Inborn genetic diseases
p.Arg1680Gln Multiple submitters Fraser syndrome 1
p.Arg173Trp Multiple submitters Fraser syndrome 1
p.Arg176Trp Multiple submitters Inborn genetic diseases
p.Arg1891Cys Multiple submitters Fraser syndrome 1
p.Arg1891His Multiple submitters Fraser syndrome 1
p.Arg2145Gln Multiple submitters Fraser syndrome 1
p.Arg2269Gln Multiple submitters Inborn genetic diseases
p.Arg2356His Multiple submitters Inborn genetic diseases
p.Arg2356Leu Multiple submitters Fraser syndrome 1
p.Arg2362Gln Multiple submitters Fraser syndrome 1
p.Arg246Trp Multiple submitters Fraser syndrome 1
p.Arg2590Cys Multiple submitters Fraser syndrome 1
p.Arg2590His Multiple submitters Fraser syndrome 1
p.Arg260Ser Multiple submitters Inborn genetic diseases
p.Arg269Trp Multiple submitters Fraser syndrome 1
p.Arg270Cys Multiple submitters Fraser syndrome 1
p.Arg270His Multiple submitters Inborn genetic diseases
p.Arg2781His Multiple submitters Inborn genetic diseases
p.Arg2781Leu Multiple submitters
p.Arg2823Cys Multiple submitters Inborn genetic diseases
p.Arg292Gln Multiple submitters Inborn genetic diseases
p.Arg292Gly Multiple submitters Inborn genetic diseases
p.Arg2943Trp Multiple submitters Fraser syndrome 1
p.Arg2978Gln Multiple submitters Inborn genetic diseases
p.Arg3052Gln Multiple submitters Fraser syndrome 1
p.Arg3052Trp Multiple submitters Fraser syndrome 1
p.Arg3080His Multiple submitters
p.Arg3242Trp Multiple submitters Fraser syndrome 1
p.Arg3269Trp Multiple submitters Inborn genetic diseases
p.Arg3421Gln Multiple submitters Inborn genetic diseases
p.Arg3529Ser Multiple submitters Fraser syndrome 1
p.Arg3537Cys Multiple submitters Fraser syndrome 1
p.Arg3537His Multiple submitters Inborn genetic diseases
p.Arg3654Cys Multiple submitters Fraser syndrome 1
p.Arg3654Leu Multiple submitters Fraser syndrome 1
p.Arg367Cys Multiple submitters Fraser syndrome 1
p.Arg3704Gln Multiple submitters Fraser syndrome 1
p.Arg3768Cys Multiple submitters Fraser syndrome 1
p.Arg3768His Multiple submitters Fraser syndrome 1
p.Arg3961Gln Multiple submitters Fraser syndrome 1
p.Arg3968Gly Multiple submitters Fraser syndrome 1
p.Arg3974Trp Multiple submitters Fraser syndrome 1
p.Arg491Gln Multiple submitters Fraser syndrome 1
p.Arg633Cys Multiple submitters Inborn genetic diseases
p.Arg633His Multiple submitters Inborn genetic diseases
p.Arg926Gln Multiple submitters Fraser syndrome 1
p.Asn1093Ser Multiple submitters Inborn genetic diseases
p.Asn1504Asp Multiple submitters Inborn genetic diseases
p.Asn1955Lys Multiple submitters Fraser syndrome 1
p.Asn2408Ser Multiple submitters Fraser syndrome 1
p.Asn2582His Multiple submitters Fraser syndrome 1
p.Asn2668Ser Multiple submitters Inborn genetic diseases
p.Asn3239Ser Multiple submitters Inborn genetic diseases
p.Asn3433Lys Multiple submitters Fraser syndrome 1
p.Asn3965Asp Multiple submitters Fraser syndrome 1
p.Asn832Ile Multiple submitters Inborn genetic diseases
p.Asp1258Asn Multiple submitters Fraser syndrome 1
p.Asp1301Asn Multiple submitters Inborn genetic diseases
p.Asp1431Asn Multiple submitters Fraser syndrome 1
p.Asp1591Tyr Multiple submitters Inborn genetic diseases
p.Asp2108Val Multiple submitters Fraser syndrome 1
p.Asp2309His Multiple submitters Fraser syndrome 1
p.Asp3203Asn Multiple submitters Fraser syndrome 1
p.Asp3411Asn Multiple submitters Fraser syndrome 1
p.Asp3417Asn Multiple submitters Inborn genetic diseases
p.Asp3466Asn Multiple submitters Fraser syndrome 1
p.Asp3535Glu Multiple submitters Inborn genetic diseases
p.Asp37Asn Multiple submitters Fraser syndrome 1
p.Asp3859Gly Multiple submitters Inborn genetic diseases
p.Asp424His Multiple submitters Fraser syndrome 1
p.Asp436Asn Multiple submitters Inborn genetic diseases
p.Asp808Gly Multiple submitters Inborn genetic diseases
p.Asp949Val Multiple submitters Inborn genetic diseases
p.Asp978Glu Multiple submitters Inborn genetic diseases
p.Cys1005Tyr Multiple submitters Inborn genetic diseases
p.Cys113Arg Multiple submitters Inborn genetic diseases
p.Cys180Tyr Multiple submitters FRAS1-related disorder
p.Cys396Arg Multiple submitters Fraser syndrome 1
p.Cys711Tyr Multiple submitters Fraser syndrome 1
p.Cys768Arg Multiple submitters Inborn genetic diseases
p.Cys937Trp Multiple submitters Fraser syndrome 1
p.Gln1325Arg Multiple submitters Inborn genetic diseases
p.Gln195His Multiple submitters Fraser syndrome 1
p.Gln2024Pro Multiple submitters Fraser syndrome 1
p.Gln226Pro Multiple submitters Inborn genetic diseases
p.Gln2897Leu Multiple submitters
p.Gln316Arg Multiple submitters Inborn genetic diseases
p.Gln3463= Multiple submitters Fraser syndrome 1
p.Gln3711Glu Multiple submitters Fraser syndrome 1
p.Gln563Glu Multiple submitters Fraser syndrome 1
p.Gln907Arg Multiple submitters Inborn genetic diseases
p.Gln975Arg Multiple submitters Fraser syndrome 1
p.Glu1175Lys Multiple submitters Fraser syndrome 1
p.Glu1356Lys Multiple submitters Fraser syndrome 1
p.Glu16Ala Multiple submitters Fraser syndrome 1
p.Glu1707Asp Multiple submitters Fraser syndrome 1
p.Glu2158Ala Multiple submitters Inborn genetic diseases
p.Glu236Lys Multiple submitters Inborn genetic diseases
p.Glu2566Lys Multiple submitters Inborn genetic diseases
p.Glu2934Lys Multiple submitters Fraser syndrome 1
p.Glu296Lys Multiple submitters Fraser syndrome 1
p.Glu3120Ala Multiple submitters Inborn genetic diseases
p.Glu3630Gln Multiple submitters Fraser syndrome 1
p.Glu694Lys Multiple submitters Inborn genetic diseases
p.Glu797Lys Multiple submitters Fraser syndrome 1
p.Glu957Lys Multiple submitters Fraser syndrome 1
p.Gly1071Val Multiple submitters Fraser syndrome 1
p.Gly1329Asp Multiple submitters Fraser syndrome 1
p.Gly1417= Multiple submitters Fraser syndrome 1
p.Gly1425Arg Multiple submitters Inborn genetic diseases
p.Gly1676Asp Multiple submitters Fraser syndrome 1
p.Gly1710Arg Multiple submitters Inborn genetic diseases
p.Gly225Asp Multiple submitters Inborn genetic diseases
p.Gly2319Arg Multiple submitters Fraser syndrome 1
p.Gly2366Arg Multiple submitters Inborn genetic diseases
p.Gly2417Glu Multiple submitters Inborn genetic diseases
p.Gly2607Arg Multiple submitters Inborn genetic diseases
p.Gly262Arg Multiple submitters Inborn genetic diseases
p.Gly2745Arg Multiple submitters Fraser syndrome 1
p.Gly283Arg Multiple submitters Fraser syndrome 1
p.Gly2945Arg Multiple submitters Fraser syndrome 1
p.Gly3389Ala Multiple submitters Fraser syndrome 1
p.Gly3394Ala Multiple submitters Inborn genetic diseases
p.Gly355Arg Multiple submitters Inborn genetic diseases
p.Gly493Arg Multiple submitters Inborn genetic diseases
p.Gly541Asp Multiple submitters Inborn genetic diseases
p.Gly596Arg Multiple submitters Inborn genetic diseases
p.Gly617Trp Multiple submitters Inborn genetic diseases
p.Gly756Arg Multiple submitters Fraser syndrome 1
p.Gly839Arg Multiple submitters Inborn genetic diseases
p.Gly979Cys Multiple submitters Inborn genetic diseases
p.His1262Tyr Multiple submitters Inborn genetic diseases
p.His1396Gln Multiple submitters Fraser syndrome 1
p.His1735Gln Multiple submitters Fraser syndrome 1
p.His2368Arg Multiple submitters Inborn genetic diseases
p.His252Gln Multiple submitters Inborn genetic diseases
p.His2995Gln Multiple submitters Inborn genetic diseases
p.His3017Tyr Multiple submitters Fraser syndrome 1
p.His3125Gln Multiple submitters Inborn genetic diseases
p.His3364Arg Multiple submitters Fraser syndrome 1
p.His3431Gln Multiple submitters Fraser syndrome 1
p.His52Tyr Multiple submitters Fraser syndrome 1
p.His536Arg Multiple submitters Fraser syndrome 1
p.His782Leu Multiple submitters Fraser syndrome 1
p.Ile1456Thr Multiple submitters Fraser syndrome 1
p.Ile1686Leu Multiple submitters Fraser syndrome 1
p.Ile1836Thr Multiple submitters Inborn genetic diseases
p.Ile1842Val Multiple submitters Fraser syndrome 1
p.Ile1930Val Multiple submitters Inborn genetic diseases
p.Ile1951Phe Multiple submitters Inborn genetic diseases
p.Ile2413Thr Multiple submitters Fraser syndrome 1
p.Ile2550Phe Multiple submitters Inborn genetic diseases
p.Ile2666Val Multiple submitters Inborn genetic diseases
p.Ile2911Val Multiple submitters Inborn genetic diseases
p.Ile3065Val Multiple submitters Fraser syndrome 1
p.Ile332Val Multiple submitters Inborn genetic diseases
p.Ile3371Val Multiple submitters Inborn genetic diseases
p.Ile3575Thr Multiple submitters Inborn genetic diseases
p.Leu1111Pro Multiple submitters
p.Leu1346Pro Multiple submitters Inborn genetic diseases
p.Leu1755Val Multiple submitters Inborn genetic diseases
p.Leu1841Phe Multiple submitters Fraser syndrome 1
p.Leu3899Pro Multiple submitters Inborn genetic diseases
p.Leu406Phe Multiple submitters Inborn genetic diseases
p.Leu685Arg Multiple submitters Fraser syndrome 1
p.Leu76Arg Multiple submitters Fraser syndrome 1
p.Leu837Pro Multiple submitters
p.Lys1321Asn Multiple submitters Fraser syndrome 1
p.Lys1726Glu Multiple submitters Inborn genetic diseases
p.Lys179Gln Multiple submitters Inborn genetic diseases
p.Lys1954Asn Multiple submitters Fraser syndrome 1
p.Lys3282Arg Multiple submitters Inborn genetic diseases
p.Lys3331Ile Multiple submitters Inborn genetic diseases
p.Lys409Arg Multiple submitters Inborn genetic diseases
p.Lys930Asn Multiple submitters Inborn genetic diseases
p.Met1337Val Multiple submitters Inborn genetic diseases
p.Met1581Val Multiple submitters Inborn genetic diseases
p.Phe1376Leu Multiple submitters Fraser syndrome 1
p.Phe1433Ser Multiple submitters Inborn genetic diseases
p.Phe3006Leu Multiple submitters Inborn genetic diseases
p.Phe3505Ser Multiple submitters Inborn genetic diseases
p.Phe3542Leu Multiple submitters Fraser syndrome 1
p.Phe3925Leu Multiple submitters Fraser syndrome 1
p.Phe645Ser Multiple submitters Inborn genetic diseases
p.Pro1053Thr Multiple submitters Fraser syndrome 1
p.Pro1272Leu Multiple submitters
p.Pro1324Leu Multiple submitters Inborn genetic diseases
p.Pro132Leu Multiple submitters Inborn genetic diseases
p.Pro1562Gln Multiple submitters Inborn genetic diseases
p.Pro1579Leu Multiple submitters Fraser syndrome 1
p.Pro1638Ala Multiple submitters Inborn genetic diseases
p.Pro1834Leu Multiple submitters Fraser syndrome 1
p.Pro1958Leu Multiple submitters Inborn genetic diseases
p.Pro196Ser Multiple submitters Inborn genetic diseases
p.Pro2001Leu Multiple submitters Fraser syndrome 1
p.Pro2166Thr Multiple submitters Inborn genetic diseases
p.Pro2434Leu Multiple submitters Inborn genetic diseases
p.Pro2863Arg Multiple submitters Inborn genetic diseases
p.Pro2881Leu Multiple submitters Inborn genetic diseases
p.Pro3054Arg Multiple submitters Fraser syndrome 1
p.Pro3096Ala Multiple submitters Fraser syndrome 1
p.Pro3569Ser Multiple submitters Inborn genetic diseases
p.Pro3632Ser Multiple submitters Inborn genetic diseases
p.Pro628Thr Multiple submitters Inborn genetic diseases
p.Pro629Ser Multiple submitters Fraser syndrome 1
p.Pro676Leu Multiple submitters Inborn genetic diseases
p.Pro771Leu Multiple submitters Fraser syndrome 1
p.Ser1110Phe Multiple submitters Inborn genetic diseases
p.Ser147Gly Multiple submitters Inborn genetic diseases
p.Ser1557Leu Multiple submitters Inborn genetic diseases
p.Ser1727Thr Multiple submitters Fraser syndrome 1
p.Ser175Asn Multiple submitters Inborn genetic diseases
p.Ser1808Phe Multiple submitters Inborn genetic diseases
p.Ser1932Gly Multiple submitters Fraser syndrome 1
p.Ser1980Phe Multiple submitters Inborn genetic diseases
p.Ser2388Asn Multiple submitters FRAS1-related disorder
p.Ser2650Thr Multiple submitters Inborn genetic diseases
p.Ser2777Pro Multiple submitters Fraser syndrome 1
p.Ser2799Leu Multiple submitters Inborn genetic diseases
p.Ser286Thr Multiple submitters Inborn genetic diseases
p.Ser2944Cys Multiple submitters Fraser syndrome 1
p.Ser2948Asn Multiple submitters Fraser syndrome 1
p.Ser3189Phe Multiple submitters
p.Ser3217Asn Multiple submitters Inborn genetic diseases
p.Ser3419Arg Multiple submitters Inborn genetic diseases
p.Ser559= Multiple submitters Fraser syndrome 1
p.Thr1237Asn Multiple submitters Inborn genetic diseases
p.Thr1445Ile Multiple submitters Inborn genetic diseases
p.Thr1530Met Multiple submitters Fraser syndrome 1
p.Thr1577Ser Multiple submitters
p.Thr1625Ile Multiple submitters Fraser syndrome 1
p.Thr1661Asn Multiple submitters Inborn genetic diseases
p.Thr1689Ile Multiple submitters Inborn genetic diseases
p.Thr1843= Multiple submitters Fraser syndrome 1
p.Thr1843Met Multiple submitters Inborn genetic diseases
p.Thr191Ile Multiple submitters Inborn genetic diseases
p.Thr1950Ala Multiple submitters Inborn genetic diseases
p.Thr2098Arg Multiple submitters Inborn genetic diseases
p.Thr2342Ile Multiple submitters Inborn genetic diseases
p.Thr2407Ser Multiple submitters Fraser syndrome 1
p.Thr2871Asn Multiple submitters Inborn genetic diseases
p.Thr2902Ile Multiple submitters Fraser syndrome 1
p.Thr2991Met Multiple submitters Fraser syndrome 1
p.Thr3076Ala Multiple submitters Inborn genetic diseases
p.Thr3151Ala Multiple submitters
p.Thr3171Ala Multiple submitters Inborn genetic diseases
p.Thr3200Ile Multiple submitters Inborn genetic diseases
p.Thr3473Ile Multiple submitters Fraser syndrome 1
p.Thr3636Pro Multiple submitters Fraser syndrome 1
p.Thr3740Lys Multiple submitters Inborn genetic diseases
p.Thr3972Pro Multiple submitters Inborn genetic diseases
p.Thr764Asn Multiple submitters Inborn genetic diseases
p.Trp960Arg Multiple submitters
p.Tyr161Cys Multiple submitters Inborn genetic diseases