ZNF469 — 4856 ClinVar variants

Pathogenic 139

• p.Ala2810fs Multiple submitters brittle cornea syndrome 1
• p.Asp2243fs Multiple submitters brittle cornea syndrome 1
• p.Gln2149Ter Multiple submitters Cardiovascular phenotype
• p.Glu176Ter Multiple submitters Cardiovascular phenotype
• p.His1888fs Multiple submitters brittle cornea syndrome 1
• p.His655fs Multiple submitters Cardiovascular phenotype
• p.Thr1628fs Multiple submitters Cardiovascular phenotype
• p.Ala1009fs Single submitter
• p.Ala1244fs Single submitter
• p.Ala174fs Single submitter
• p.Ala207fs Single submitter brittle cornea syndrome 1
• p.Ala229fs Single submitter
• p.Ala2347fs Single submitter
• p.Ala253fs Single submitter
• p.Ala2707fs Single submitter
• p.Ala2721fs Single submitter
• p.Arg1023fs Single submitter
• p.Arg1028fs Single submitter
• p.Arg1115fs Single submitter
• p.Arg1117Ter Single submitter
• p.Arg1131Ter Single submitter
• p.Arg1172fs Single submitter
• p.Arg1176Ter Single submitter
• p.Arg1629fs Single submitter
• p.Arg1688fs Single submitter
• p.Arg1934Ter Single submitter
• p.Arg2076Ter Single submitter Cardiovascular phenotype
• p.Arg21fs Single submitter
• p.Arg2257Ter Single submitter
• p.Arg2267Ter Single submitter
• p.Arg2998Ter Single submitter
• p.Arg3090fs Single submitter
• p.Arg3306fs Single submitter
• p.Arg781fs Single submitter
• p.Arg7fs Single submitter
• p.Arg912fs Single submitter
• p.Asp1007fs Single submitter
• p.Asp1237fs Single submitter
• p.Asp151fs Single submitter
• p.Asp2247fs Single submitter
• p.Asp2437fs Single submitter
• p.Asp2811fs Single submitter
• p.Cys2882_Glu2883delinsTer Single submitter
• p.Gln103fs Single submitter
• p.Gln1103Ter Single submitter brittle cornea syndrome 1
• p.Gln118fs Single submitter
• p.Gln154fs Single submitter
• p.Gln1574fs Single submitter
• p.Gln1718fs Single submitter
• p.Gln1832fs Single submitter
• p.Gln212fs Single submitter
• p.Gln2149fs Single submitter
• p.Gln228Ter Single submitter
• p.Gln2424Ter Single submitter
• p.Gln3088fs Single submitter
• p.Gln32Ter Single submitter
• p.Gln3461Ter Single submitter
• p.Gln642Ter Single submitter
• p.Gln726fs Single submitter
• p.Gln950Ter Single submitter
• p.Glu1020Ter Single submitter
• p.Glu1156fs Single submitter
• p.Glu1232Ter Single submitter
• p.Glu1711Ter Single submitter
• p.Glu3581Ter Single submitter
• p.Glu696fs Single submitter
• p.Gly1164fs Single submitter brittle cornea syndrome 1
• p.Gly1521Ter Single submitter
• p.Gly1655fs Single submitter
• p.Gly2312Ter Single submitter
• p.Gly2699Ter Single submitter
• p.Gly270Ter Single submitter
• p.Gly3030fs Single submitter
• p.Gly3457fs Single submitter
• p.His281fs Single submitter
• p.His2876fs Single submitter
• p.His29fs Single submitter
• p.His3162fs Single submitter
• p.Ile1902fs Single submitter
• p.Leu102fs Single submitter
• p.Leu1562fs Single submitter
• p.Leu1875Ter Single submitter
• p.Leu2035_Leu2036insTer Single submitter
• p.Leu2199fs Single submitter brittle cornea syndrome 1
• p.Leu2222fs Single submitter
• p.Leu2250fs Single submitter brittle cornea syndrome 1
• p.Leu2800fs Single submitter
• p.Leu2958fs Single submitter
• p.Leu482fs Single submitter brittle cornea syndrome 1
• p.Leu773fs Single submitter
• p.Lys3109fs Single submitter
• p.Lys378Ter Single submitter
• p.Lys74fs Single submitter
• p.Lys896fs Single submitter
• p.Met1554fs Single submitter
• p.Phe1796fs Single submitter
• p.Pro1320fs Single submitter
• p.Pro1409fs Single submitter
• p.Pro2059fs Single submitter
• p.Pro210fs Single submitter brittle cornea syndrome 1
• p.Pro2664fs Single submitter
• p.Pro2685fs Single submitter
• p.Pro2fs Single submitter
• p.Pro3142fs Single submitter
• p.Pro3506fs Single submitter
• p.Pro651fs Single submitter
• p.Pro6fs Single submitter
• p.Ser1196fs Single submitter Cardiovascular phenotype
• p.Ser1335fs Single submitter
• p.Ser1473Ter Single submitter
• p.Ser1500fs Single submitter
• p.Ser1761fs Single submitter brittle cornea syndrome 1
• p.Ser2226fs Single submitter Cardiovascular phenotype
• p.Ser2652fs Single submitter
• p.Ser272fs Single submitter
• p.Ser3022fs Single submitter
• p.Ser830Ter Single submitter
• p.Thr13fs Single submitter
• p.Thr1581fs Single submitter
• p.Thr2473fs Single submitter
• p.Thr732fs Single submitter Cardiovascular phenotype
• p.Thr814fs Single submitter
• p.Thr934fs Single submitter
• p.Trp1983Ter Single submitter
• p.Trp2961Ter Single submitter
• p.Trp3256Ter Single submitter
• p.Tyr448Ter Single submitter
• p.Val1312fs Single submitter
• p.Val1331fs Single submitter
• p.Val150fs Single submitter Cardiovascular phenotype
• p.Val1523fs Single submitter
• p.Val2886fs Single submitter
• p.Gln1894Leu No assertion criteria keratoconus 1 ⚠
• p.Gln3206fs No assertion criteria brittle cornea syndrome 1
• p.Glu113Lys No assertion criteria keratoconus 1 ⚠
• p.Glu1420Ter No assertion criteria brittle cornea syndrome 1
• p.Gly2011fs No assertion criteria brittle cornea syndrome 1
• p.Pro900Arg No assertion criteria keratoconus 1 ⚠
• p.Ser26Thr No assertion criteria keratoconus 1 ⚠

Pathogenic/Likely pathogenic 12

• p.Ala1321fs Multiple submitters
• p.Ala558Valfs Multiple submitters
• p.Arg2784Ter Multiple submitters brittle cornea syndrome 1
• p.Arg3090Ter Multiple submitters brittle cornea syndrome 1
• p.Arg3442fs Multiple submitters brittle cornea syndrome 1
• p.Gln2432Ter Multiple submitters
• p.Gln2556Ter Multiple submitters brittle cornea syndrome 1
• p.Leu391fs Multiple submitters Cardiovascular phenotype
• p.Pro1373fs Multiple submitters brittle cornea syndrome 1
• p.Ser2519Alafs Multiple submitters Cardiovascular phenotype
• p.Trp2790Ter Multiple submitters
• p.Val1012Serfs Multiple submitters brittle cornea syndrome 1

Likely pathogenic 26

• p.Cys1252fs Multiple submitters brittle cornea syndrome 1
• p.Ala3293fs Single submitter brittle cornea syndrome 1
• p.Ala361fs Single submitter brittle cornea syndrome 1
• p.Arg1005fs Single submitter brittle cornea syndrome 1
• p.Arg1871fs Single submitter brittle cornea syndrome 1
• p.Arg3106fs Single submitter brittle cornea syndrome 1
• p.Arg3783Ter Single submitter brittle cornea syndrome 1
• p.Arg989fs Single submitter
• p.Asp984fs Single submitter brittle cornea syndrome 1
• p.Cys3569Ter Single submitter brittle cornea syndrome 1
• p.Gln2049Ter Single submitter
• p.Gln751Ter Single submitter brittle cornea syndrome 1
• p.Glu2936Ter Single submitter Ehlers-Danlos syndrome
• p.Gly2100_Asp2101insTer Single submitter Cardiovascular phenotype
• p.Gly529fs Single submitter brittle cornea syndrome 1
• p.His2626fs Single submitter brittle cornea syndrome 1
• p.Phe690fs Single submitter
• p.Pro1516delinsAlaValArgMetCysArgProSerProGluAspGlyAlaValArgSerThrValProLeuPhePheAlaAlaTer Single submitter brittle cornea syndrome 1
• p.Pro711fs Single submitter brittle cornea syndrome 1
• p.Ser2328Ter Single submitter ZNF469-related disorder
• p.Ser3833fs Single submitter
• p.Ser940fs Single submitter
• p.Val1801fs Single submitter brittle cornea syndrome 1
• p.Val2621fs Single submitter
• p.Glu240= No assertion criteria keratoconus 1
• p.Leu3643= No assertion criteria keratoconus 1

Conflicting classifications of pathogenicity 465

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

• c.-2C>T Single submitter Cardiovascular phenotype
• p.Ala109Val Single submitter Cardiovascular phenotype ⚠
• p.Ala112Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1151Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1184Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1251Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1404Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1474= Single submitter Cardiovascular phenotype
• p.Ala1483Ser Single submitter Cardiovascular phenotype ⚠
• p.Ala1483Thr Single submitter brittle cornea syndrome 1 ⚠
• p.Ala1538Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1640= Single submitter Cardiovascular phenotype
• p.Ala1669Val Single submitter Cardiovascular phenotype ⚠
• p.Ala174Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1755Thr Single submitter ⚠
• p.Ala1756Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1847Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1847Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1860Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1929Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala1955Val Single submitter Cardiovascular phenotype ⚠
• p.Ala1989= Single submitter Cardiovascular phenotype
• p.Ala201Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala2067Val Single submitter Cardiovascular phenotype ⚠
• p.Ala2112Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala2114Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala2121Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala2335= Single submitter Cardiovascular phenotype
• p.Ala2364Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala238Val Single submitter Cardiovascular phenotype ⚠
• p.Ala2410Gly Single submitter Cardiovascular phenotype ⚠
• p.Ala246Val Single submitter Cardiovascular phenotype ⚠
• p.Ala24Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala2503Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala253Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala2687Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala2738Ser Single submitter brittle cornea syndrome 1 ⚠
• p.Ala2810Val Single submitter Cardiovascular phenotype ⚠
• p.Ala3168Val Single submitter Cardiovascular phenotype ⚠
• p.Ala317= Single submitter Cardiovascular phenotype
• p.Ala3172= Single submitter Cardiovascular phenotype
• p.Ala3207Val Single submitter ZNF469-related disorder ⚠
• p.Ala3225Val Single submitter Cardiovascular phenotype ⚠
• p.Ala3235Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala3271Val Single submitter Cardiovascular phenotype ⚠
• p.Ala3465Asp Single submitter Cardiovascular phenotype ⚠
• p.Ala3570= Single submitter Cardiovascular phenotype
• p.Ala3634Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala3670Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala3712Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala3722Thr Single submitter Ehlers-Danlos syndrome ⚠
• p.Ala435Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala491Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala673Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala678Asp Single submitter Cardiovascular phenotype ⚠
• p.Ala708Val Single submitter Cardiovascular phenotype ⚠
• p.Ala778Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala794Val Single submitter Cardiovascular phenotype ⚠
• p.Ala869Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala938Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala9Val Single submitter Cardiovascular phenotype ⚠
• p.Arg1014Gly Single submitter Cardiovascular phenotype ⚠
• p.Arg1033Gly Single submitter Cardiovascular phenotype ⚠
• p.Arg1037Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1039Ser Single submitter Cardiovascular phenotype
• p.Arg1107= Single submitter Cardiovascular phenotype
• p.Arg119Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg119His Single submitter Cardiovascular phenotype ⚠
• p.Arg1532Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1582His Single submitter Cardiovascular phenotype ⚠
• p.Arg1609Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1610His Single submitter Cardiovascular phenotype ⚠
• p.Arg1637Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1637Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1715Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg1766Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1869Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg1869Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg1892Lys Single submitter Ehlers-Danlos syndrome ⚠
• p.Arg1903Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg2076Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg2132His Single submitter Cardiovascular phenotype ⚠
• p.Arg21Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg2251Gly Single submitter Cardiovascular phenotype ⚠
• p.Arg2395Gly Single submitter Cardiovascular phenotype ⚠
• p.Arg2447Thr Single submitter Cardiovascular phenotype ⚠
• p.Arg2482His Single submitter ⚠
• p.Arg2532Met Single submitter Cardiovascular phenotype ⚠
• p.Arg2613Pro Single submitter Cardiovascular phenotype ⚠
• p.Arg2616Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg2616His Single submitter Cardiovascular phenotype ⚠
• p.Arg2617Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg2644Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg2644Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg2694Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg2728Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg2728Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg2881Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg2907Pro Single submitter Cardiovascular phenotype ⚠
• p.Arg3025Ile Single submitter Cardiovascular phenotype ⚠
• p.Arg3027Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg3027His Single submitter Cardiovascular phenotype ⚠
• p.Arg3042Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg3090Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg3106Trp Single submitter brittle cornea syndrome 1 ⚠
• p.Arg3123His Single submitter brittle cornea syndrome 1
• p.Arg3125Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg3166Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg3412His Single submitter Cardiovascular phenotype ⚠
• p.Arg3442Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg3442Met Single submitter Cardiovascular phenotype ⚠
• p.Arg3445fs Single submitter Cardiovascular phenotype
• p.Arg3464Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg3494Gly Single submitter Ehlers-Danlos syndrome ⚠
• p.Arg3494Pro Single submitter Cardiovascular phenotype ⚠
• p.Arg3624His Single submitter Cardiovascular phenotype ⚠
• p.Arg3630Cys Single submitter brittle cornea syndrome 1 ⚠
• p.Arg3630His Single submitter Cardiovascular phenotype ⚠
• p.Arg3662Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg3739His Single submitter Cardiovascular phenotype ⚠
• p.Arg3773Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg3773Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg3849Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg3849Trp Single submitter Cardiovascular phenotype
• p.Arg3856His Single submitter Cardiovascular phenotype ⚠
• p.Arg3878Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg3899Ser Single submitter Cardiovascular phenotype
• p.Arg3923Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg473Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg492Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg503Gln Single submitter Cardiovascular phenotype ⚠
• p.Arg503Trp Single submitter Ehlers-Danlos syndrome ⚠
• p.Arg5His Single submitter Cardiovascular phenotype ⚠
• p.Arg707Cys Single submitter brittle cornea syndrome 1 ⚠
• p.Arg766Gln Single submitter Ehlers-Danlos syndrome ⚠
• p.Arg7Ter Single submitter Cardiovascular phenotype
• p.Arg947= Single submitter Ehlers-Danlos syndrome
• p.Arg947Ser Single submitter Cardiovascular phenotype ⚠
• p.Arg979Lys Single submitter Cardiovascular phenotype ⚠
• p.Asn1855Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn195Lys Single submitter Cardiovascular phenotype ⚠
• p.Asp1318Glu Single submitter Cardiovascular phenotype ⚠
• p.Asp1486Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp2101Glu Single submitter Cardiovascular phenotype ⚠
• p.Asp2109Gly Single submitter Cardiovascular phenotype ⚠
• p.Asp2158= Single submitter Cardiovascular phenotype
• p.Asp2247Tyr Single submitter Cardiovascular phenotype ⚠
• p.Asp233Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp2654Val Single submitter Cardiovascular phenotype ⚠
• p.Asp2688= Single submitter Cardiovascular phenotype
• p.Asp291Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp2930Tyr Single submitter brittle cornea syndrome 1 ⚠
• p.Asp2982Gly Single submitter Cardiovascular phenotype ⚠
• p.Asp2982His Single submitter Cardiovascular phenotype ⚠
• p.Asp3008Glu Single submitter Cardiovascular phenotype ⚠
• p.Asp350Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp555Asn Single submitter Cardiovascular phenotype ⚠
• p.Asp762Gly Single submitter Cardiovascular phenotype ⚠
• p.Cys1721Phe Single submitter brittle cornea syndrome 1 ⚠
• p.Cys2921Tyr Single submitter Cardiovascular phenotype ⚠
• p.Gln1128= Single submitter Ehlers-Danlos syndrome
• p.Gln1651Arg Single submitter Cardiovascular phenotype ⚠
• p.Gln2298Lys Single submitter Cardiovascular phenotype ⚠
• p.Gln2606Pro Single submitter Cardiovascular phenotype ⚠
• p.Gln3122Arg Single submitter Cardiovascular phenotype ⚠
• p.Gln3258Lys Single submitter Cardiovascular phenotype ⚠
• p.Gln950Leu Single submitter Cardiovascular phenotype ⚠
• p.Glu1020= Single submitter Cardiovascular phenotype
• p.Glu1156Lys Single submitter brittle cornea syndrome 1 ⚠
• p.Glu1426Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu1440= Single submitter Cardiovascular phenotype
• p.Glu1619Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu1648= Single submitter Ehlers-Danlos syndrome
• p.Glu1762Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu176Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu1853Gly Single submitter Cardiovascular phenotype ⚠
• p.Glu2031Lys Single submitter Ehlers-Danlos syndrome ⚠
• p.Glu226Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu254Lys Single submitter Ehlers-Danlos syndrome ⚠
• p.Glu2611Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu2646Gln Single submitter Cardiovascular phenotype ⚠
• p.Glu2704Ala Single submitter Cardiovascular phenotype ⚠
• p.Glu2804Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu2835Gln Single submitter Cardiovascular phenotype ⚠
• p.Glu2929Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu2936Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu315Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu3259Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu3320Asp Single submitter Cardiovascular phenotype ⚠
• p.Glu3488Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu3760Lys Single submitter Cardiovascular phenotype
• p.Glu3809Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu382Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu426Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu590Lys Single submitter brittle cornea syndrome 1 ⚠
• p.Glu62Asp Single submitter Cardiovascular phenotype ⚠
• p.Glu62Lys Single submitter Cardiovascular phenotype ⚠
• p.Glu72Asp Single submitter brittle cornea syndrome 1 ⚠
• p.Glu935Gly Single submitter Cardiovascular phenotype ⚠
• p.Gly1047Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly1160Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly1297Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly1307Cys Single submitter Cardiovascular phenotype ⚠
• p.Gly1307Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly1372Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly1537Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly1631Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly1701Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly1736Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly1781Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly179Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly1870Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly1918Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly1942Val Single submitter Cardiovascular phenotype ⚠
• p.Gly1943Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly1972Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly1972Val Single submitter Cardiovascular phenotype ⚠
• p.Gly1976Trp Single submitter Cardiovascular phenotype ⚠
• p.Gly2041Val Single submitter Cardiovascular phenotype ⚠
• p.Gly2091Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2108Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly2161Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly222Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2338Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2368Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2381Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly2440Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2484Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly249Arg Single submitter brittle cornea syndrome 1 ⚠
• p.Gly2659Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly265Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2661Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2683= Single submitter Cardiovascular phenotype
• p.Gly2689Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly2717Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly2801Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly2820Ser Single submitter Ehlers-Danlos syndrome ⚠
• p.Gly282Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly2830Ala Single submitter Cardiovascular phenotype ⚠
• p.Gly2867Ser Single submitter ZNF469-related disorder ⚠
• p.Gly2899Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly2899Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2942Arg Single submitter Cardiovascular phenotype
• p.Gly2957Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly2999Val Single submitter Cardiovascular phenotype
• p.Gly3030Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly3072Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly3178Ser Single submitter Spontaneous hematomas
• p.Gly3205Glu Single submitter Cardiovascular phenotype
• p.Gly321= Single submitter Cardiovascular phenotype
• p.Gly3268Asp Single submitter Cardiovascular phenotype ⚠
• p.Gly3284Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly3319Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly3378Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly3386Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly340= Single submitter Cardiovascular phenotype
• p.Gly3443Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly3443Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly3443Val Single submitter Ehlers-Danlos syndrome ⚠
• p.Gly3444Ala Single submitter Cardiovascular phenotype ⚠
• p.Gly3444Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly3444Val Single submitter Cardiovascular phenotype ⚠
• p.Gly3487Ser Single submitter Ehlers-Danlos syndrome ⚠
• p.Gly3567Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly3573Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly3588Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly3622= Single submitter Cardiovascular phenotype
• p.Gly3709Glu Single submitter Cardiovascular phenotype ⚠
• p.Gly3729Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly3741Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly3835Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly47Ser Single submitter Ehlers-Danlos syndrome ⚠
• p.Gly510Thr Single submitter Cardiovascular phenotype
• p.Gly543Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly602Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly627Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly966Arg Single submitter Cardiovascular phenotype ⚠
• p.Gly972_Gly973del Single submitter brittle cornea syndrome 1
• p.Gly977Ser Single submitter Cardiovascular phenotype ⚠
• p.Gly985Ser Single submitter Cardiovascular phenotype ⚠
• p.His1399Pro Single submitter Cardiovascular phenotype ⚠
• p.His1636Arg Single submitter Cardiovascular phenotype ⚠
• p.His2326Gln Single submitter Cardiovascular phenotype ⚠
• p.His2782Tyr Single submitter Cardiovascular phenotype ⚠
• p.His2977Gln Single submitter Cardiovascular phenotype ⚠
• p.His3226Asn Single submitter Cardiovascular phenotype ⚠
• p.His3510Tyr Single submitter Cardiovascular phenotype ⚠
• p.His692Tyr Single submitter Cardiovascular phenotype ⚠
• p.Leu1503Val Single submitter Cardiovascular phenotype ⚠
• p.Leu1524Arg Single submitter Cardiovascular phenotype ⚠
• p.Leu1553Phe Single submitter Cardiovascular phenotype ⚠
• p.Leu1765Arg Single submitter Cardiovascular phenotype ⚠
• p.Leu1817Val Single submitter Cardiovascular phenotype ⚠
• p.Leu2210Pro Single submitter Cardiovascular phenotype ⚠
• p.Leu3396Gln Single submitter Cardiovascular phenotype ⚠
• p.Leu488Pro Single submitter Cardiovascular phenotype ⚠
• p.Leu757Arg Single submitter Cardiovascular phenotype ⚠
• p.Leu798= Single submitter Cardiovascular phenotype
• p.Leu799= Single submitter Cardiovascular phenotype
• p.Leu958Pro Single submitter Cardiovascular phenotype ⚠

Benign 22

• c.*8G>A Multiple submitters brittle cornea syndrome 1
• p.Arg2449His Multiple submitters Cardiovascular phenotype
• p.Arg2868= Multiple submitters Cardiovascular phenotype
• p.Arg366Ser Multiple submitters Cardiovascular phenotype
• p.Pro1174= Multiple submitters Cardiovascular phenotype
• p.Pro2154= Multiple submitters Cardiovascular phenotype
• p.Pro3919= Multiple submitters brittle cornea syndrome 1
• p.Pro592= Multiple submitters Cardiovascular phenotype
• p.Pro710= Multiple submitters brittle cornea syndrome 1
• p.Ser357Pro Multiple submitters Cardiovascular phenotype
• p.Ser3952= Multiple submitters brittle cornea syndrome 1
• c.*1001A>G Single submitter
• c.*618T>G Single submitter
• c.*788G>A Single submitter
• p.Ala1474Val Single submitter Cardiovascular phenotype
• p.Ala1830Ser Single submitter Cardiovascular phenotype
• p.Asp2848Gly Single submitter brittle cornea syndrome 1
• p.Gln2832Arg Single submitter Cardiovascular phenotype
• p.Lys2260Arg Single submitter Cardiovascular phenotype
• p.Lys2633Glu Single submitter Cardiovascular phenotype
• p.Arg1637Pro No assertion criteria keratoconus 1
• p.Ser881= No assertion criteria keratoconus 1

Benign/Likely benign 119

• c.-18C>A Multiple submitters
• c.*46C>A Multiple submitters brittle cornea syndrome 1
• p.Ala109= Multiple submitters Cardiovascular phenotype
• p.Ala1258Glu Multiple submitters Cardiovascular phenotype
• p.Ala2087Thr Multiple submitters Cardiovascular phenotype
• p.Ala2503Glu Multiple submitters Cardiovascular phenotype
• p.Ala2707= Multiple submitters brittle cornea syndrome 1
• p.Ala2738Thr Multiple submitters brittle cornea syndrome 1
• p.Ala290Val Multiple submitters Cardiovascular phenotype
• p.Ala3185= Multiple submitters Ehlers-Danlos syndrome
• p.Ala3570Thr Multiple submitters brittle cornea syndrome 1
• p.Ala3599Ser Multiple submitters Cardiovascular phenotype
• p.Ala3664= Multiple submitters Cardiovascular phenotype
• p.Ala429Thr Multiple submitters Cardiovascular phenotype
• p.Ala508Thr Multiple submitters Cardiovascular phenotype
• p.Ala566Val Multiple submitters Cardiovascular phenotype
• p.Ala678= Multiple submitters brittle cornea syndrome 1
• p.Ala803Ser Multiple submitters Cardiovascular phenotype
• p.Ala889Val Multiple submitters Cardiovascular phenotype
• p.Arg1042Gln Multiple submitters Cardiovascular phenotype
• p.Arg1114Leu Multiple submitters Cardiovascular phenotype
• p.Arg1172= Multiple submitters brittle cornea syndrome 1
• p.Arg2157Lys Multiple submitters Cardiovascular phenotype
• p.Arg21His Multiple submitters Cardiovascular phenotype
• p.Arg2267Gln Multiple submitters brittle cornea syndrome 1
• p.Arg2489Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2881His Multiple submitters Cardiovascular phenotype
• p.Arg3042His Multiple submitters Ehlers-Danlos syndrome
• p.Arg3442Ser Multiple submitters Cardiovascular phenotype
• p.Arg3442Thr Multiple submitters Cardiovascular phenotype
• p.Arg3454Gln Multiple submitters Cardiovascular phenotype
• p.Arg3713Cys Multiple submitters brittle cornea syndrome 1
• p.Asn3580= Multiple submitters Cardiovascular phenotype
• p.Asp134= Multiple submitters Ehlers-Danlos syndrome
• p.Asp2777Val Multiple submitters Cardiovascular phenotype
• p.Asp3298= Multiple submitters Cardiovascular phenotype
• p.Cys1952= Multiple submitters Cardiovascular phenotype
• p.Gln2163= Multiple submitters brittle cornea syndrome 1
• p.Gln2572= Multiple submitters Cardiovascular phenotype
• p.Gln3886His Multiple submitters Cardiovascular phenotype
• p.Glu2259= Multiple submitters Cardiovascular phenotype
• p.Glu2537Asp Multiple submitters Cardiovascular phenotype
• p.Glu2645= Multiple submitters brittle cornea syndrome 1
• p.Glu3054Ala Multiple submitters Cardiovascular phenotype
• p.Glu316Lys Multiple submitters Ehlers-Danlos syndrome
• p.Glu3658Gln Multiple submitters brittle cornea syndrome 1
• p.Glu679Lys Multiple submitters Ehlers-Danlos syndrome
• p.Glu935Lys Multiple submitters Ehlers-Danlos syndrome
• p.Gly1942Arg Multiple submitters brittle cornea syndrome 1
• p.Gly2011Asp Multiple submitters Cardiovascular phenotype
• p.Gly2386Arg Multiple submitters brittle cornea syndrome 1
• p.Gly2689= Multiple submitters Cardiovascular phenotype
• p.Gly2898= Multiple submitters Cardiovascular phenotype
• p.Gly3300= Multiple submitters Cardiovascular phenotype
• p.Gly3443Ala Multiple submitters Cardiovascular phenotype
• p.Gly3659Arg Multiple submitters Cardiovascular phenotype
• p.Gly3803= Multiple submitters Cardiovascular phenotype
• p.Gly971= Multiple submitters Cardiovascular phenotype
• p.Gly977= Multiple submitters Cardiovascular phenotype
• p.His2876Arg Multiple submitters brittle cornea syndrome 1
• p.His3802Gln Multiple submitters Cardiovascular phenotype
• p.Ile1051= Multiple submitters Cardiovascular phenotype
• p.Ile3538Thr Multiple submitters Cardiovascular phenotype
• p.Leu1455Val Multiple submitters brittle cornea syndrome 1
• p.Leu1459Arg Multiple submitters Cardiovascular phenotype
• p.Leu2130Val Multiple submitters Cardiovascular phenotype
• p.Leu2602Pro Multiple submitters Cardiovascular phenotype
• p.Leu2698Gln Multiple submitters brittle cornea syndrome 1
• p.Leu3032_Thr3036del Multiple submitters Cardiovascular phenotype
• p.Leu790= Multiple submitters Cardiovascular phenotype
• p.Leu885Val Multiple submitters brittle cornea syndrome 1
• p.Lys2559Glu Multiple submitters brittle cornea syndrome 1
• p.Met3002Leu Multiple submitters Cardiovascular phenotype
• p.Pro1158Ser Multiple submitters Cardiovascular phenotype
• p.Pro1217Leu Multiple submitters Cardiovascular phenotype
• p.Pro1400Thr Multiple submitters Cardiovascular phenotype
• p.Pro1409= Multiple submitters Cardiovascular phenotype
• p.Pro1696Leu Multiple submitters Cardiovascular phenotype
• p.Pro1743= Multiple submitters Cardiovascular phenotype
• p.Pro1805His Multiple submitters brittle cornea syndrome 1
• p.Pro1859Leu Multiple submitters Cardiovascular phenotype
• p.Pro1954= Multiple submitters brittle cornea syndrome 1
• p.Pro208= Multiple submitters Cardiovascular phenotype
• p.Pro208Leu Multiple submitters Cardiovascular phenotype
• p.Pro2315Arg Multiple submitters brittle cornea syndrome 1
• p.Pro2360Leu Multiple submitters brittle cornea syndrome 1
• p.Pro2423= Multiple submitters Cardiovascular phenotype
• p.Pro2588= Multiple submitters Cardiovascular phenotype
• p.Pro2692= Multiple submitters brittle cornea syndrome 1
• p.Pro2875= Multiple submitters Cardiovascular phenotype
• p.Pro2956= Multiple submitters Ehlers-Danlos syndrome
• p.Pro3107= Multiple submitters Ehlers-Danlos syndrome
• p.Pro3335= Multiple submitters Cardiovascular phenotype
• p.Pro3491Arg Multiple submitters brittle cornea syndrome 1
• p.Pro3552= Multiple submitters Cardiovascular phenotype
• p.Pro528= Multiple submitters Cardiovascular phenotype
• p.Pro638Leu Multiple submitters Ehlers-Danlos syndrome
• p.Pro651= Multiple submitters Ehlers-Danlos syndrome
• p.Pro665Leu Multiple submitters brittle cornea syndrome 1
• p.Pro876_Gly882del Multiple submitters brittle cornea syndrome 1
• p.Ser1168= Multiple submitters Cardiovascular phenotype
• p.Ser1238= Multiple submitters Cardiovascular phenotype
• p.Ser1473= Multiple submitters brittle cornea syndrome 1
• p.Ser1478= Multiple submitters brittle cornea syndrome 1
• p.Ser1642= Multiple submitters Cardiovascular phenotype
• p.Ser1663= Multiple submitters Cardiovascular phenotype
• p.Ser1899= Multiple submitters Cardiovascular phenotype
• p.Ser2138= Multiple submitters Cardiovascular phenotype
• p.Ser3735Gly Multiple submitters Cardiovascular phenotype
• p.Ser3748= Multiple submitters Cardiovascular phenotype
• p.Ser609= Multiple submitters Cardiovascular phenotype
• p.Thr1533= Multiple submitters Cardiovascular phenotype
• p.Thr1628= Multiple submitters brittle cornea syndrome 1
• p.Thr1846Met Multiple submitters brittle cornea syndrome 1
• p.Thr2012= Multiple submitters brittle cornea syndrome 1
• p.Thr2794Met Multiple submitters Cardiovascular phenotype
• p.Tyr1469Cys Multiple submitters Cardiovascular phenotype
• p.Val318Met Multiple submitters Cardiovascular phenotype
• p.Val3619Met Multiple submitters Cardiovascular phenotype

Likely benign 1848

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

• p.Ala1009= Multiple submitters Cardiovascular phenotype
• p.Ala1041Thr Multiple submitters Cardiovascular phenotype
• p.Ala1182= Multiple submitters Cardiovascular phenotype
• p.Ala1183= Multiple submitters Cardiovascular phenotype
• p.Ala1184= Multiple submitters Cardiovascular phenotype
• p.Ala1198= Multiple submitters Cardiovascular phenotype
• p.Ala1288= Multiple submitters
• p.Ala1422= Multiple submitters Cardiovascular phenotype
• p.Ala1485= Multiple submitters Cardiovascular phenotype
• p.Ala160= Multiple submitters Cardiovascular phenotype
• p.Ala1614= Multiple submitters Cardiovascular phenotype
• p.Ala1635= Multiple submitters Cardiovascular phenotype
• p.Ala1649= Multiple submitters brittle cornea syndrome 1
• p.Ala1649Val Multiple submitters Cardiovascular phenotype
• p.Ala1735= Multiple submitters Cardiovascular phenotype
• p.Ala174= Multiple submitters Cardiovascular phenotype
• p.Ala175= Multiple submitters Cardiovascular phenotype
• p.Ala1755= Multiple submitters Cardiovascular phenotype
• p.Ala1790= Multiple submitters
• p.Ala1804= Multiple submitters Cardiovascular phenotype
• p.Ala1860= Multiple submitters Cardiovascular phenotype
• p.Ala1867= Multiple submitters Cardiovascular phenotype
• p.Ala1882Thr Multiple submitters Cardiovascular phenotype
• p.Ala1951= Multiple submitters Cardiovascular phenotype
• p.Ala1971= Multiple submitters Cardiovascular phenotype
• p.Ala2025= Multiple submitters Cardiovascular phenotype
• p.Ala2033= Multiple submitters Cardiovascular phenotype
• p.Ala2045= Multiple submitters Cardiovascular phenotype
• p.Ala2067= Multiple submitters Cardiovascular phenotype
• p.Ala2087= Multiple submitters Cardiovascular phenotype
• p.Ala2111= Multiple submitters Cardiovascular phenotype
• p.Ala2114= Multiple submitters Cardiovascular phenotype
• p.Ala2120= Multiple submitters Cardiovascular phenotype
• p.Ala2189= Multiple submitters Cardiovascular phenotype
• p.Ala2282= Multiple submitters Cardiovascular phenotype
• p.Ala2297= Multiple submitters Cardiovascular phenotype
• p.Ala232= Multiple submitters Cardiovascular phenotype
• p.Ala24= Multiple submitters Cardiovascular phenotype
• p.Ala2410= Multiple submitters Cardiovascular phenotype
• p.Ala2429= Multiple submitters Cardiovascular phenotype
• p.Ala2503= Multiple submitters Cardiovascular phenotype
• p.Ala2508= Multiple submitters Cardiovascular phenotype
• p.Ala253= Multiple submitters
• p.Ala2589= Multiple submitters Cardiovascular phenotype
• p.Ala2667= Multiple submitters Cardiovascular phenotype
• p.Ala2738= Multiple submitters
• p.Ala2763= Multiple submitters Cardiovascular phenotype
• p.Ala2775= Multiple submitters Cardiovascular phenotype
• p.Ala2810= Multiple submitters Cardiovascular phenotype
• p.Ala2846= Multiple submitters Cardiovascular phenotype
• p.Ala290= Multiple submitters Cardiovascular phenotype
• p.Ala3082= Multiple submitters Cardiovascular phenotype
• p.Ala3108= Multiple submitters Cardiovascular phenotype
• p.Ala312= Multiple submitters Cardiovascular phenotype
• p.Ala3168= Multiple submitters Cardiovascular phenotype
• p.Ala3198= Multiple submitters Cardiovascular phenotype
• p.Ala3225Thr Multiple submitters Cardiovascular phenotype
• p.Ala3235= Multiple submitters Cardiovascular phenotype
• p.Ala3248= Multiple submitters Cardiovascular phenotype
• p.Ala3285= Multiple submitters
• p.Ala3286= Multiple submitters Cardiovascular phenotype
• p.Ala3295= Multiple submitters Cardiovascular phenotype
• p.Ala3297= Multiple submitters Cardiovascular phenotype
• p.Ala331= Multiple submitters Cardiovascular phenotype
• p.Ala3357= Multiple submitters Cardiovascular phenotype
• p.Ala3387= Multiple submitters Cardiovascular phenotype
• p.Ala3449= Multiple submitters Cardiovascular phenotype
• p.Ala3516= Multiple submitters Cardiovascular phenotype
• p.Ala3563= Multiple submitters Cardiovascular phenotype
• p.Ala3611= Multiple submitters Cardiovascular phenotype
• p.Ala3616= Multiple submitters
• p.Ala3629= Multiple submitters Cardiovascular phenotype
• p.Ala3702= Multiple submitters Cardiovascular phenotype
• p.Ala3702Val Multiple submitters Cardiovascular phenotype
• p.Ala3712= Multiple submitters Cardiovascular phenotype
• p.Ala3776= Multiple submitters Cardiovascular phenotype
• p.Ala3894= Multiple submitters Cardiovascular phenotype
• p.Ala3917= Multiple submitters Cardiovascular phenotype
• p.Ala3925= Multiple submitters Cardiovascular phenotype
• p.Ala3951= Multiple submitters Cardiovascular phenotype
• p.Ala410= Multiple submitters Cardiovascular phenotype
• p.Ala428= Multiple submitters Cardiovascular phenotype
• p.Ala536= Multiple submitters Cardiovascular phenotype
• p.Ala558= Multiple submitters Cardiovascular phenotype
• p.Ala566= Multiple submitters Cardiovascular phenotype
• p.Ala586= Multiple submitters Cardiovascular phenotype
• p.Ala601= Multiple submitters Cardiovascular phenotype
• p.Ala633= Multiple submitters Cardiovascular phenotype
• p.Ala673= Multiple submitters Cardiovascular phenotype
• p.Ala788= Multiple submitters Cardiovascular phenotype
• p.Ala794= Multiple submitters Cardiovascular phenotype
• p.Ala805= Multiple submitters Cardiovascular phenotype
• p.Ala821= Multiple submitters Cardiovascular phenotype
• p.Ala847= Multiple submitters Cardiovascular phenotype
• p.Ala869= Multiple submitters Cardiovascular phenotype
• p.Ala889= Multiple submitters Cardiovascular phenotype
• p.Ala9= Multiple submitters Cardiovascular phenotype
• p.Ala936= Multiple submitters Cardiovascular phenotype
• p.Ala964= Multiple submitters Cardiovascular phenotype
• p.Arg1114Pro Multiple submitters Cardiovascular phenotype
• p.Arg1121= Multiple submitters Cardiovascular phenotype
• p.Arg1162= Multiple submitters Cardiovascular phenotype
• p.Arg1216= Multiple submitters Cardiovascular phenotype
• p.Arg1688= Multiple submitters Cardiovascular phenotype
• p.Arg1715= Multiple submitters Cardiovascular phenotype
• p.Arg1788= Multiple submitters Cardiovascular phenotype
• p.Arg2267= Multiple submitters Cardiovascular phenotype
• p.Arg2489= Multiple submitters Cardiovascular phenotype
• p.Arg2660= Multiple submitters Cardiovascular phenotype
• p.Arg2728= Multiple submitters Cardiovascular phenotype
• p.Arg2734= Multiple submitters
• p.Arg2907= Multiple submitters Cardiovascular phenotype
• p.Arg3027= Multiple submitters
• p.Arg3112= Multiple submitters Cardiovascular phenotype
• p.Arg3204= Multiple submitters Cardiovascular phenotype
• p.Arg3240= Multiple submitters Cardiovascular phenotype
• p.Arg3270= Multiple submitters Cardiovascular phenotype
• p.Arg3276= Multiple submitters Cardiovascular phenotype
• p.Arg3306= Multiple submitters Cardiovascular phenotype
• p.Arg3337= Multiple submitters Cardiovascular phenotype
• p.Arg3354= Multiple submitters Cardiovascular phenotype
• p.Arg3363= Multiple submitters Cardiovascular phenotype
• p.Arg3412= Multiple submitters
• p.Arg3435= Multiple submitters Cardiovascular phenotype
• p.Arg3442= Multiple submitters Cardiovascular phenotype
• p.Arg3445= Multiple submitters Cardiovascular phenotype
• p.Arg3455= Multiple submitters Cardiovascular phenotype
• p.Arg3464= Multiple submitters Cardiovascular phenotype
• p.Arg3773= Multiple submitters Cardiovascular phenotype
• p.Arg3846= Multiple submitters
• p.Arg3890= Multiple submitters Cardiovascular phenotype
• p.Arg3903= Multiple submitters Cardiovascular phenotype
• p.Arg707= Multiple submitters Cardiovascular phenotype
• p.Arg766= Multiple submitters Cardiovascular phenotype
• p.Arg982Lys Multiple submitters Cardiovascular phenotype
• p.Arg996= Multiple submitters Cardiovascular phenotype
• p.Asn1286= Multiple submitters Cardiovascular phenotype
• p.Asn1315= Multiple submitters Cardiovascular phenotype
• p.Asn1333= Multiple submitters Cardiovascular phenotype
• p.Asn1360= Multiple submitters Cardiovascular phenotype
• p.Asn1691= Multiple submitters Cardiovascular phenotype
• p.Asn1886= Multiple submitters Cardiovascular phenotype
• p.Asn1936= Multiple submitters Cardiovascular phenotype
• p.Asn2005= Multiple submitters Cardiovascular phenotype
• p.Asn2062= Multiple submitters Cardiovascular phenotype
• p.Asn241= Multiple submitters Cardiovascular phenotype
• p.Asn2460= Multiple submitters Cardiovascular phenotype
• p.Asn465= Multiple submitters Cardiovascular phenotype
• p.Asn551= Multiple submitters Cardiovascular phenotype
• p.Asn599= Multiple submitters Cardiovascular phenotype
• p.Asn849= Multiple submitters Cardiovascular phenotype
• p.Asp1007= Multiple submitters
• p.Asp1101= Multiple submitters Cardiovascular phenotype
• p.Asp1318= Multiple submitters Cardiovascular phenotype
• p.Asp1355= Multiple submitters Cardiovascular phenotype
• p.Asp1406Tyr Multiple submitters Cardiovascular phenotype
• p.Asp1620= Multiple submitters Cardiovascular phenotype
• p.Asp17= Multiple submitters Cardiovascular phenotype
• p.Asp1744= Multiple submitters Cardiovascular phenotype
• p.Asp1763= Multiple submitters Cardiovascular phenotype
• p.Asp1812= Multiple submitters Cardiovascular phenotype
• p.Asp2179= Multiple submitters Cardiovascular phenotype
• p.Asp2545= Multiple submitters Cardiovascular phenotype
• p.Asp2658= Multiple submitters Cardiovascular phenotype
• p.Asp2727= Multiple submitters Cardiovascular phenotype
• p.Asp2900= Multiple submitters Cardiovascular phenotype
• p.Asp2952= Multiple submitters Cardiovascular phenotype
• p.Asp2981= Multiple submitters Cardiovascular phenotype
• p.Asp3007= Multiple submitters Cardiovascular phenotype
• p.Asp3008= Multiple submitters
• p.Asp3029= Multiple submitters Cardiovascular phenotype
• p.Asp3283= Multiple submitters Cardiovascular phenotype
• p.Asp3532= Multiple submitters Cardiovascular phenotype
• p.Asp3572= Multiple submitters Cardiovascular phenotype
• p.Asp3950= Multiple submitters Cardiovascular phenotype
• p.Asp70= Multiple submitters Cardiovascular phenotype
• p.Asp728= Multiple submitters Cardiovascular phenotype
• p.Asp802= Multiple submitters Cardiovascular phenotype
• p.Asp861= Multiple submitters Cardiovascular phenotype
• p.Asp866= Multiple submitters Cardiovascular phenotype
• p.Asp984= Multiple submitters
• p.Cys1354= Multiple submitters Cardiovascular phenotype
• p.Cys1416= Multiple submitters Cardiovascular phenotype
• p.Cys2113= Multiple submitters Cardiovascular phenotype
• p.Cys2204= Multiple submitters Cardiovascular phenotype
• p.Cys2213= Multiple submitters Cardiovascular phenotype
• p.Cys2477= Multiple submitters Cardiovascular phenotype
• p.Cys2715= Multiple submitters Cardiovascular phenotype
• p.Cys2919= Multiple submitters Cardiovascular phenotype
• p.Cys3148= Multiple submitters Cardiovascular phenotype
• p.Cys3177= Multiple submitters
• p.Cys3180= Multiple submitters Cardiovascular phenotype
• p.Cys3404= Multiple submitters Cardiovascular phenotype
• p.Cys3569= Multiple submitters Cardiovascular phenotype
• p.Cys733= Multiple submitters Cardiovascular phenotype
• p.Gln154= Multiple submitters Cardiovascular phenotype
• p.Gln1759= Multiple submitters Cardiovascular phenotype
• p.Gln1963= Multiple submitters Cardiovascular phenotype
• p.Gln220= Multiple submitters Cardiovascular phenotype
• p.Gln2424= Multiple submitters Cardiovascular phenotype
• p.Gln2606= Multiple submitters Cardiovascular phenotype
• p.Gln2691Arg Multiple submitters
• p.Gln32= Multiple submitters Cardiovascular phenotype
• p.Gln3867= Multiple submitters Cardiovascular phenotype
• p.Gln3877= Multiple submitters Cardiovascular phenotype
• p.Gln3897= Multiple submitters
• p.Gln3938= Multiple submitters Cardiovascular phenotype
• p.Gln409= Multiple submitters
• p.Gln941= Multiple submitters Cardiovascular phenotype
• p.Glu1100= Multiple submitters Cardiovascular phenotype
• p.Glu1102= Multiple submitters Cardiovascular phenotype
• p.Glu1156= Multiple submitters
• p.Glu135= Multiple submitters Cardiovascular phenotype
• p.Glu1438= Multiple submitters Cardiovascular phenotype
• p.Glu1587= Multiple submitters Cardiovascular phenotype
• p.Glu1746= Multiple submitters Cardiovascular phenotype
• p.Glu1794= Multiple submitters Cardiovascular phenotype
• p.Glu2064= Multiple submitters Cardiovascular phenotype
• p.Glu2378= Multiple submitters Cardiovascular phenotype
• p.Glu2475= Multiple submitters
• p.Glu2504= Multiple submitters Cardiovascular phenotype
• p.Glu2560= Multiple submitters Cardiovascular phenotype
• p.Glu2582= Multiple submitters Cardiovascular phenotype
• p.Glu2628= Multiple submitters Cardiovascular phenotype
• p.Glu2646= Multiple submitters Cardiovascular phenotype
• p.Glu2690= Multiple submitters Cardiovascular phenotype
• p.Glu2704= Multiple submitters Cardiovascular phenotype
• p.Glu2923= Multiple submitters Cardiovascular phenotype
• p.Glu3157= Multiple submitters
• p.Glu3502= Multiple submitters Cardiovascular phenotype
• p.Glu3612= Multiple submitters Cardiovascular phenotype
• p.Glu3647= Multiple submitters Cardiovascular phenotype
• p.Glu3809= Multiple submitters Cardiovascular phenotype
• p.Glu3812= Multiple submitters Cardiovascular phenotype
• p.Glu3926= Multiple submitters Cardiovascular phenotype
• p.Glu426= Multiple submitters Cardiovascular phenotype
• p.Glu686= Multiple submitters
• p.Gly1147= Multiple submitters Cardiovascular phenotype
• p.Gly1160= Multiple submitters Cardiovascular phenotype
• p.Gly1164= Multiple submitters Cardiovascular phenotype
• p.Gly1173= Multiple submitters
• p.Gly1306= Multiple submitters Cardiovascular phenotype
• p.Gly1365= Multiple submitters Cardiovascular phenotype
• p.Gly1372= Multiple submitters Cardiovascular phenotype
• p.Gly157= Multiple submitters Cardiovascular phenotype
• p.Gly1656= Multiple submitters
• p.Gly1841= Multiple submitters Cardiovascular phenotype
• p.Gly1918= Multiple submitters Cardiovascular phenotype
• p.Gly1957= Multiple submitters Cardiovascular phenotype
• p.Gly1960= Multiple submitters Cardiovascular phenotype
• p.Gly1976= Multiple submitters Cardiovascular phenotype
• p.Gly2011= Multiple submitters Cardiovascular phenotype
• p.Gly209= Multiple submitters Cardiovascular phenotype
• p.Gly2147= Multiple submitters Cardiovascular phenotype
• p.Gly2148= Multiple submitters Cardiovascular phenotype
• p.Gly2180= Multiple submitters
• p.Gly2217= Multiple submitters Cardiovascular phenotype
• p.Gly2386= Multiple submitters Cardiovascular phenotype
• p.Gly2402= Multiple submitters Cardiovascular phenotype
• p.Gly2404= Multiple submitters Cardiovascular phenotype
• p.Gly2557= Multiple submitters
• p.Gly2566= Multiple submitters Cardiovascular phenotype
• p.Gly2612= Multiple submitters Cardiovascular phenotype
• p.Gly265= Multiple submitters Cardiovascular phenotype
• p.Gly2661= Multiple submitters Cardiovascular phenotype
• p.Gly270= Multiple submitters Cardiovascular phenotype
• p.Gly2733= Multiple submitters Cardiovascular phenotype
• p.Gly2866= Multiple submitters Cardiovascular phenotype
• p.Gly2879= Multiple submitters Cardiovascular phenotype
• p.Gly294= Multiple submitters
• p.Gly2957= Multiple submitters Cardiovascular phenotype
• p.Gly2999= Multiple submitters Cardiovascular phenotype
• p.Gly3014Arg Multiple submitters Cardiovascular phenotype
• p.Gly3072Ser Multiple submitters Cardiovascular phenotype
• p.Gly3086= Multiple submitters Cardiovascular phenotype
• p.Gly3097= Multiple submitters
• p.Gly3099= Multiple submitters Cardiovascular phenotype
• p.Gly3128= Multiple submitters Cardiovascular phenotype
• p.Gly3154= Multiple submitters Cardiovascular phenotype
• p.Gly3161= Multiple submitters Cardiovascular phenotype
• p.Gly3178= Multiple submitters Cardiovascular phenotype
• p.Gly319= Multiple submitters Cardiovascular phenotype
• p.Gly3205= Multiple submitters Cardiovascular phenotype
• p.Gly3257= Multiple submitters Cardiovascular phenotype
• p.Gly3268= Multiple submitters Cardiovascular phenotype
• p.Gly3318= Multiple submitters Cardiovascular phenotype
• p.Gly3378= Multiple submitters Cardiovascular phenotype
• p.Gly3385= Multiple submitters Cardiovascular phenotype
• p.Gly344= Multiple submitters Cardiovascular phenotype
• p.Gly3443= Multiple submitters Cardiovascular phenotype
• p.Gly3487= Multiple submitters Cardiovascular phenotype
• p.Gly3598= Multiple submitters Cardiovascular phenotype
• p.Gly3660= Multiple submitters Cardiovascular phenotype
• p.Gly3663= Multiple submitters Cardiovascular phenotype
• p.Gly3675= Multiple submitters Cardiovascular phenotype
• p.Gly3741= Multiple submitters Cardiovascular phenotype
• p.Gly3746= Multiple submitters Cardiovascular phenotype
• p.Gly3800= Multiple submitters Cardiovascular phenotype
• p.Gly453= Multiple submitters
• p.Gly510Ala Multiple submitters

Uncertain significance 2225

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

• p.254EP[3] Multiple submitters brittle cornea syndrome 1
• p.967SG[1] Multiple submitters Cardiovascular phenotype
• p.Ala1001Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1001Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1006Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala104Thr Multiple submitters brittle cornea syndrome 1 ⚠
• p.Ala1095Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1251Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1329Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1338Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1539Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1591Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1640Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1690Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1735Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala175Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala175Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1783Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1795Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1795Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1808Thr Multiple submitters brittle cornea syndrome 1 ⚠
• p.Ala1873Val Multiple submitters ⚠
• p.Ala1955Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala1969Val Multiple submitters brittle cornea syndrome 1 ⚠
• p.Ala2016Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2016Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala201Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2025Pro Multiple submitters ⚠
• p.Ala2142Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2211Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2285Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala238Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2390Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2478Thr Multiple submitters ⚠
• p.Ala2501Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2503Val Multiple submitters ⚠
• p.Ala2508Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2810Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala283Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2932Asp Multiple submitters Cardiovascular phenotype
• p.Ala2955Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala296Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala2995Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3082Gly Multiple submitters ⚠
• p.Ala3082Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3113Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3140Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3198Val Multiple submitters Cardiovascular phenotype
• p.Ala3202Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3207Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3249Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3262Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala331Val Multiple submitters ⚠
• p.Ala3458Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3570Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3582Thr Multiple submitters brittle cornea syndrome 1 ⚠
• p.Ala3611Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala364Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala364Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3674Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3712Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3782Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3786Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ala3927Thr Multiple submitters ⚠
• p.Ala410Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala458Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Ala508Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala722Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala758Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala788Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala803Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala964Val Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1011Gln Multiple submitters ⚠
• p.Arg1037Met Multiple submitters Cardiovascular phenotype
• p.Arg1042Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1107Gln Multiple submitters keratoconus 1 ⚠
• p.Arg1117Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1162Leu Multiple submitters ⚠
• p.Arg1431Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1476Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1532Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1577Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1609Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg1629Cys Multiple submitters Ehlers-Danlos syndrome ⚠
• p.Arg1934Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2082Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2336Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2387Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2449Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2482Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2489Trp Multiple submitters Cardiovascular phenotype
• p.Arg2493Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2496Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2543Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2543Trp Multiple submitters Ehlers-Danlos syndrome ⚠
• p.Arg2613Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2614Ser Multiple submitters ⚠
• p.Arg2644Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2660His Multiple submitters ⚠
• p.Arg2694Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2784Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2881Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2907Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2983Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2983Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg2998Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3112Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3123Cys Multiple submitters Cardiovascular phenotype
• p.Arg3123Pro Multiple submitters Cardiovascular phenotype
• p.Arg3151Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3156Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3195Cys Multiple submitters Ehlers-Danlos syndrome ⚠
• p.Arg3195His Multiple submitters Cardiovascular phenotype
• p.Arg3200His Multiple submitters brittle cornea syndrome 1 ⚠
• p.Arg3208Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3274Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3442Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3445Trp Multiple submitters Ehlers-Danlos syndrome ⚠
• p.Arg3451His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3474Trp Multiple submitters ZNF469-related disorder ⚠
• p.Arg3475His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg347His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3494Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3603Gln Multiple submitters ⚠
• p.Arg3603Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3624Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3625Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3630Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3662Ter Multiple submitters Cardiovascular phenotype
• p.Arg3739Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3846fs Multiple submitters Cardiovascular phenotype
• p.Arg3846Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3878Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3878Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg3899fs Multiple submitters Cardiovascular phenotype
• p.Arg3923Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg492Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg5Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg66Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Arg699Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg921Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg995Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Asn195Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Asn2632Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Asn3229Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn3717Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn857Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Asp1035_Lys1038del Multiple submitters Cardiovascular phenotype
• p.Asp1093Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp1201Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp1318Asn Multiple submitters ⚠
• p.Asp1713Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2013Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2109Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2224Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2247Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2727Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2736Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2826Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2854Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2914Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp2981Tyr Multiple submitters ⚠
• p.Asp2982Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp3007Asn Multiple submitters brittle cornea syndrome 1 ⚠
• p.Asp3314Gly Multiple submitters brittle cornea syndrome 1 ⚠
• p.Asp3434His Multiple submitters Cardiovascular phenotype
• p.Asp3568Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp3930Glu Multiple submitters Cardiovascular phenotype
• p.Asp737Tyr Multiple submitters Cardiovascular phenotype
• p.Asp802Glu Multiple submitters ⚠
• p.Asp861His Multiple submitters Cardiovascular phenotype
• p.Asp866Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp915Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp984del Multiple submitters Cardiovascular phenotype
• p.Cys1252Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Cys2039Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Cys2168Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Cys2168Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Cys2204Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Cys3550Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Gln1204Arg Multiple submitters brittle cornea syndrome 1 ⚠
• p.Gln212His Multiple submitters Cardiovascular phenotype ⚠
• p.Gln220His Multiple submitters Cardiovascular phenotype ⚠
• p.Gln228Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gln2419His Multiple submitters Cardiovascular phenotype ⚠
• p.Gln2446His Multiple submitters Cardiovascular phenotype ⚠
• p.Gln3446Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Gln388Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln64His Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1049Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1100_Glu1102del Multiple submitters Cardiovascular phenotype
• p.Glu1134Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1214Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1224Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1227Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1233Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu135Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1420Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1559Lys Multiple submitters Cardiovascular phenotype
• p.Glu1760Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu1990Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu2053Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu2064Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu2190Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu2459Asp Multiple submitters ⚠
• p.Glu2582Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu2690Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu2773Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu2936Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu2980Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3019Lys Multiple submitters Cardiovascular phenotype
• p.Glu3093Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3129Asp Multiple submitters
• p.Glu3150Lys Multiple submitters ⚠
• p.Glu3269Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3320Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3392Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3395Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3395Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3395Gly Multiple submitters ⚠
• p.Glu3502Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3525Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3581Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3876Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3918Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu3926Lys Multiple submitters ⚠
• p.Glu512Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu643Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu806Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1043Val Multiple submitters ZNF469-related disorder ⚠
• p.Gly1148Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1159Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1187_Lys1190del Multiple submitters
• p.Gly1299Asp Multiple submitters ⚠
• p.Gly1307Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1386Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1419Ser Multiple submitters ⚠
• p.Gly1479Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1546Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly157Glu Multiple submitters brittle cornea syndrome 1 ⚠
• p.Gly1600Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1639Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1730Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1774Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1775Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly179Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly1811Cys Multiple submitters ⚠
• p.Gly2006Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2032Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2091Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly209Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2147_Gly2148insLeuGly Multiple submitters Cardiovascular phenotype
• p.Gly215Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2294Arg Multiple submitters brittle cornea syndrome 1 ⚠
• p.Gly2305Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2357Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2402Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2461Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2659Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly266Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2705Val Multiple submitters brittle cornea syndrome 1 ⚠
• p.Gly2754Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2788Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly2970Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3030Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3034Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly311Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3246Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3250Ala Multiple submitters ⚠
• p.Gly3452Ser Multiple submitters brittle cornea syndrome 1 ⚠
• p.Gly3495Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3565Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3567_Asp3568delinsGluAsn Multiple submitters Cardiovascular phenotype
• p.Gly3588Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3764Cysfs Multiple submitters Cardiovascular phenotype
• p.Gly3820Val Multiple submitters ⚠
• p.Gly3832Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3898Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3913Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly392Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly3937Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly396Arg Multiple submitters ⚠
• p.Gly408Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly466Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Gly515Arg Multiple submitters ⚠
• p.Gly552Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly564Arg Multiple submitters
• p.Gly677Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly701Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly71Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gly88Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly890Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly890Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly972Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Gly973Arg Multiple submitters Cardiovascular phenotype ⚠
• p.His1380Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.His1665Arg Multiple submitters Cardiovascular phenotype ⚠
• p.His1665Asn Multiple submitters Cardiovascular phenotype ⚠
• p.His1834Asn Multiple submitters Cardiovascular phenotype ⚠
• p.His2431Tyr Multiple submitters Cardiovascular phenotype ⚠