SCRIB — 499 ClinVar variants
All ClinVar germline SCRIB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 320 flagged for review →
1 Likely pathogenic · 20 Benign · 2 Benign/Likely benign · 121 Likely benign · 355 Uncertain significance
Full SCRIB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 320
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 260
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 260
- SCRIB p.Ala1010Thr Uncertain significance Single submitter
- SCRIB p.Ala1198Gly Uncertain significance Single submitter
- SCRIB p.Ala1253Pro Uncertain significance Single submitter
- SCRIB p.Ala1253Thr Uncertain significance Single submitter
- SCRIB p.Ala1257Ser Uncertain significance Single submitter
- SCRIB p.Ala1270Gly Uncertain significance Single submitter
- SCRIB p.Ala1273Thr Uncertain significance Single submitter
- SCRIB p.Ala1325Val Uncertain significance Single submitter
- SCRIB p.Ala1347Gly Uncertain significance Single submitter
- SCRIB p.Ala1414Pro Uncertain significance Single submitter
- SCRIB p.Ala1414Val Uncertain significance Single submitter
- SCRIB p.Ala1456Thr Uncertain significance Single submitter
- SCRIB p.Ala1484Val Uncertain significance Single submitter
- SCRIB p.Ala1537Val Uncertain significance Single submitter
- SCRIB p.Ala1543Gly Uncertain significance Single submitter
- SCRIB p.Ala376Thr Uncertain significance Single submitter
- SCRIB p.Ala392Val Uncertain significance Single submitter
- SCRIB p.Ala453Val Uncertain significance Single submitter
- SCRIB p.Ala463Thr Uncertain significance Single submitter
- SCRIB p.Ala508Thr Uncertain significance Single submitter
- SCRIB p.Ala591Val Uncertain significance Single submitter
- SCRIB p.Ala624Thr Uncertain significance Single submitter
- SCRIB p.Ala651Pro Uncertain significance Single submitter
- SCRIB p.Ala657Val Uncertain significance Single submitter
- SCRIB p.Ala682Thr Uncertain significance Single submitter
- SCRIB p.Ala770Val Uncertain significance Single submitter
- SCRIB p.Ala822Val Uncertain significance Single submitter
- SCRIB p.Ala890Val Uncertain significance Single submitter
- SCRIB p.Ala898Pro Uncertain significance Single submitter
- SCRIB p.Ala931Val Uncertain significance Single submitter
- SCRIB p.Ala937Thr Uncertain significance Single submitter
- SCRIB p.Ala937Val Uncertain significance Single submitter
- SCRIB p.Ala943Thr Uncertain significance Single submitter
- SCRIB p.Ala967Thr Uncertain significance Single submitter
- SCRIB p.Ala967Val Uncertain significance Single submitter
- SCRIB p.Ala995Pro Uncertain significance Single submitter
- SCRIB p.Ala995Val Uncertain significance Single submitter
- SCRIB p.Arg1090Gln Uncertain significance Single submitter
- SCRIB p.Arg1099Gln Uncertain significance Single submitter
- SCRIB p.Arg1152His Uncertain significance Single submitter
- SCRIB p.Arg1229Trp Uncertain significance Single submitter
- SCRIB p.Arg1259Gln Uncertain significance Single submitter
- SCRIB p.Arg1366His Uncertain significance Single submitter
- SCRIB p.Arg1405Trp Uncertain significance Single submitter
- SCRIB p.Arg1483His Uncertain significance Single submitter
- SCRIB p.Arg1491Trp Uncertain significance Single submitter
- SCRIB p.Arg1515Gln Uncertain significance Single submitter
- SCRIB p.Arg1527Gln Uncertain significance Single submitter
- SCRIB p.Arg1527Trp Uncertain significance Single submitter
- SCRIB p.Arg1530Gln Uncertain significance Single submitter
- SCRIB p.Arg1530Trp Uncertain significance Single submitter
- SCRIB p.Arg1564His Uncertain significance Single submitter
- SCRIB p.Arg1640Cys Uncertain significance Single submitter
- SCRIB p.Arg1640His Uncertain significance Single submitter
- SCRIB p.Arg221Cys Uncertain significance Single submitter
-
SCRIB p.Arg231Gln
Uncertain significance
Single submitter
SCRIB-related disorder
- SCRIB p.Arg256Trp Uncertain significance Single submitter
- SCRIB p.Arg257Thr Uncertain significance Single submitter
- SCRIB p.Arg306Gly Uncertain significance Single submitter
- SCRIB p.Arg346Cys Uncertain significance Single submitter
- SCRIB p.Arg346His Uncertain significance Single submitter
- SCRIB p.Arg397Gln Uncertain significance Single submitter
- SCRIB p.Arg405Leu Uncertain significance Single submitter
- SCRIB p.Arg405Trp Uncertain significance Single submitter
- SCRIB p.Arg472Cys Uncertain significance Single submitter
- SCRIB p.Arg473Gln Uncertain significance Single submitter
- SCRIB p.Arg486Lys Uncertain significance Single submitter
- SCRIB p.Arg491Gln Uncertain significance Single submitter
- SCRIB p.Arg513Gln Uncertain significance Single submitter
- SCRIB p.Arg525Cys Uncertain significance Single submitter
- SCRIB p.Arg525Ser Uncertain significance Single submitter
- SCRIB p.Arg57Trp Uncertain significance Single submitter
- SCRIB p.Arg656Gln Uncertain significance Single submitter
- SCRIB p.Arg656Trp Uncertain significance Single submitter
- SCRIB p.Arg681Lys Uncertain significance Single submitter
- SCRIB p.Arg73Gln Uncertain significance Single submitter
- SCRIB p.Arg73Trp Uncertain significance Single submitter
- SCRIB p.Arg762Trp Uncertain significance Single submitter
- SCRIB p.Arg771Gln Uncertain significance Single submitter
- SCRIB p.Arg775His Uncertain significance Single submitter
- SCRIB p.Arg815His Uncertain significance Single submitter
- SCRIB p.Arg829Gln Uncertain significance Single submitter
- SCRIB p.Arg839Trp Uncertain significance Single submitter
- SCRIB p.Arg845Cys Uncertain significance Single submitter
- SCRIB p.Arg858His Uncertain significance Single submitter
- SCRIB p.Arg867Cys Uncertain significance Single submitter
- SCRIB p.Arg870Met Uncertain significance Single submitter
- SCRIB p.Arg905Leu Uncertain significance Single submitter
- SCRIB p.Asn11Ser Uncertain significance Single submitter
- SCRIB p.Asn1316Ser Uncertain significance Single submitter
- SCRIB p.Asn152Ser Uncertain significance Single submitter
- SCRIB p.Asn647His Uncertain significance Single submitter
- SCRIB p.Asp1182Asn Uncertain significance Single submitter
- SCRIB p.Asp1197His Uncertain significance Single submitter
- SCRIB p.Asp1335Asn Uncertain significance Single submitter
- SCRIB p.Asp1430Asn Uncertain significance Single submitter
- SCRIB p.Asp1553Gly Uncertain significance Single submitter
- SCRIB p.Asp402Asn Uncertain significance Single submitter
- SCRIB p.Asp439Asn Uncertain significance Single submitter
- SCRIB p.Asp693Asn Uncertain significance Single submitter
- SCRIB p.Gln1281His Uncertain significance Single submitter
- SCRIB p.Gln1369His Uncertain significance Single submitter
- SCRIB p.Gln1444His Uncertain significance Single submitter
- SCRIB p.Gln275Arg Uncertain significance Single submitter
- SCRIB p.Gln449Arg Uncertain significance Single submitter
- SCRIB p.Gln544Arg Uncertain significance Single submitter
- SCRIB p.Glu1241Lys Uncertain significance Single submitter
- SCRIB p.Glu1252Lys Uncertain significance Single submitter
- SCRIB p.Glu1255Lys Uncertain significance Single submitter
- SCRIB p.Glu1371Lys Uncertain significance Single submitter
- SCRIB p.Glu1426Gly Uncertain significance Single submitter
- SCRIB p.Glu1429Asp Uncertain significance Single submitter
- SCRIB p.Glu1482Lys Uncertain significance Single submitter
- SCRIB p.Glu1611Lys Uncertain significance Single submitter
- SCRIB p.Glu1632Gln Uncertain significance Single submitter
- SCRIB p.Glu30Asp Uncertain significance Single submitter
- SCRIB p.Glu408Lys Uncertain significance Single submitter
- SCRIB p.Glu458Lys Uncertain significance Single submitter
- SCRIB p.Glu489Lys Uncertain significance Single submitter
- SCRIB p.Glu509Lys Uncertain significance Single submitter
- SCRIB p.Glu537Lys Uncertain significance Single submitter
- SCRIB p.Glu561Lys Uncertain significance Single submitter
- SCRIB p.Glu585Lys Uncertain significance Single submitter
- SCRIB p.Glu586Lys Uncertain significance Single submitter
- SCRIB p.Glu623Lys Uncertain significance Single submitter
- SCRIB p.Glu660Val Uncertain significance Single submitter
- SCRIB p.Glu676Asp Uncertain significance Single submitter
- SCRIB p.Glu691Asp Uncertain significance Single submitter
- SCRIB p.Glu691Lys Uncertain significance Single submitter
- SCRIB p.Glu795Lys Uncertain significance Single submitter
- SCRIB p.Glu820Gln Uncertain significance Single submitter
- SCRIB p.Glu997Gln Uncertain significance Single submitter
- SCRIB p.Gly1063Arg Uncertain significance Single submitter
- SCRIB p.Gly1133Val Uncertain significance Single submitter
- SCRIB p.Gly1286Arg Uncertain significance Single submitter
- SCRIB p.Gly1289Arg Uncertain significance Single submitter
- SCRIB p.Gly1411Arg Uncertain significance Single submitter
- SCRIB p.Gly1411Glu Uncertain significance Single submitter
- SCRIB p.Gly1424Ser Uncertain significance Single submitter
- SCRIB p.Gly1627Asp Uncertain significance Single submitter
- SCRIB p.Gly1627Ser Uncertain significance Single submitter
- SCRIB p.Gly1627Val Uncertain significance Single submitter
- SCRIB p.Gly194Arg Uncertain significance Single submitter
- SCRIB p.Gly333Ser Uncertain significance Single submitter
- SCRIB p.Gly667Asp Uncertain significance Single submitter
- SCRIB p.Gly951Trp Uncertain significance Single submitter
- SCRIB p.His1217Gln Uncertain significance Single submitter
- SCRIB p.His132Tyr Uncertain significance Single submitter
- SCRIB p.His646Leu Uncertain significance Single submitter
- SCRIB p.Ile1038Val Uncertain significance Single submitter
Predictors split 60
The independent predictors disagree with each other — read with care.
- SCRIB p.Ala1048Thr Uncertain significance Single submitter
- SCRIB p.Ala1119Pro Uncertain significance Single submitter
- SCRIB p.Ala134Val Uncertain significance Single submitter
- SCRIB p.Ala1513Thr Uncertain significance Single submitter
- SCRIB p.Ala1516Thr Uncertain significance Single submitter
- SCRIB p.Ala926Thr Uncertain significance Single submitter
- SCRIB p.Arg1080Trp Uncertain significance Single submitter
- SCRIB p.Arg1099Trp Uncertain significance Single submitter
- SCRIB p.Arg1116His Uncertain significance Single submitter
- SCRIB p.Arg1152Cys Uncertain significance Single submitter
- SCRIB p.Arg1355Trp Uncertain significance Single submitter
- SCRIB p.Arg1357Gln Uncertain significance Single submitter
- SCRIB p.Arg1386Trp Uncertain significance Single submitter
- SCRIB p.Arg1465Trp Uncertain significance Single submitter
- SCRIB p.Arg277Trp Uncertain significance Single submitter
- SCRIB p.Arg444His Uncertain significance Single submitter
- SCRIB p.Arg771Trp Uncertain significance Single submitter
- SCRIB p.Arg914His Uncertain significance Single submitter
- SCRIB p.Arg914Leu Uncertain significance Single submitter
- SCRIB p.Asn1125Thr Uncertain significance Single submitter
- SCRIB p.Asn149Lys Uncertain significance Single submitter
- SCRIB p.Asp1128Asn Uncertain significance Single submitter
- SCRIB p.Asp1148Asn Uncertain significance Single submitter
- SCRIB p.Asp606Gly Uncertain significance Single submitter
- SCRIB p.Gln419Arg Uncertain significance Single submitter
- SCRIB p.Glu1109Lys Uncertain significance Single submitter
- SCRIB p.Glu1489Lys Uncertain significance Single submitter
- SCRIB p.Glu1496Lys Uncertain significance Single submitter
- SCRIB p.Glu229Gly Uncertain significance Single submitter
- SCRIB p.Glu234Lys Uncertain significance Single submitter
- SCRIB p.Glu30Gln Uncertain significance Single submitter
- SCRIB p.Glu325Lys Uncertain significance Single submitter
- SCRIB p.Glu480Gly Uncertain significance Single submitter
- SCRIB p.Glu480Lys Uncertain significance Single submitter
- SCRIB p.Glu663Lys Uncertain significance Single submitter
- SCRIB p.Glu672Lys Uncertain significance Single submitter
- SCRIB p.Glu676Lys Uncertain significance Single submitter
- SCRIB p.Gly1146Arg Uncertain significance Single submitter
- SCRIB p.Gly407Ser Uncertain significance Single submitter
- SCRIB p.His477Tyr Uncertain significance Single submitter
- SCRIB p.His904Asn Uncertain significance Single submitter
- SCRIB p.Ile71Leu Uncertain significance Single submitter
- SCRIB p.Leu242Val Uncertain significance Single submitter
- SCRIB p.Leu254Val Uncertain significance Single submitter
- SCRIB p.Leu727Met Uncertain significance Single submitter
- SCRIB p.Lys1040Thr Uncertain significance Single submitter
- SCRIB p.Lys1395Glu Uncertain significance Single submitter
- SCRIB p.Phe759Leu Uncertain significance Single submitter
- SCRIB p.Pro884Leu Uncertain significance Single submitter
- SCRIB p.Ser1017Thr Uncertain significance Single submitter
- SCRIB p.Ser1298Tyr Uncertain significance Single submitter
- SCRIB p.Ser292Phe Uncertain significance Single submitter
- SCRIB p.Ser338Arg Uncertain significance Single submitter
- SCRIB p.Ser933Phe Uncertain significance Single submitter
- SCRIB p.Val1019Ala Uncertain significance Single submitter
- SCRIB p.Val1186Ala Uncertain significance Single submitter
- SCRIB p.Val1380Leu Uncertain significance Single submitter
- SCRIB p.Val894Leu Uncertain significance Single submitter
- SCRIB p.Val89Met Uncertain significance Single submitter
-
SCRIB p.Asp426Asn
Benign
No assertion criteria
SCRIB-related disorder
All SCRIB variants
Likely pathogenic 1
- p.Gln393Ter Single submitter neural tube defect
Benign 20
- c.504-9C>T Multiple submitters
- p.Arg492= Multiple submitters
- p.Leu254= Multiple submitters
- p.Phe571= Multiple submitters
- p.Pro1343= Multiple submitters
- p.Pro1332Leu Single submitter
- p.Val763= Single submitter
- p.Ala440Val No assertion criteria SCRIB-related disorder
- p.Arg1366= No assertion criteria SCRIB-related disorder
- p.Asp1023Asn No assertion criteria SCRIB-related disorder
- p.Asp426Asn No assertion criteria SCRIB-related disorder ⚠
- p.Gln1163Glu No assertion criteria SCRIB-related disorder
- p.Gly1555Ser No assertion criteria SCRIB-related disorder
- p.Gly980Arg No assertion criteria SCRIB-related disorder
- p.Leu1404= No assertion criteria SCRIB-related disorder
- p.Leu158= No assertion criteria SCRIB-related disorder
- p.Leu470= No assertion criteria SCRIB-related disorder
- p.Pro1307= No assertion criteria SCRIB-related disorder
- p.Pro1337Ser No assertion criteria SCRIB-related disorder
- p.Ser504= No assertion criteria SCRIB-related disorder
Benign/Likely benign 2
- c.3120+10C>G Multiple submitters
- p.Asn647= Multiple submitters
Likely benign 121
- p.Ala1488= Multiple submitters
- p.Pro1592Leu Multiple submitters
- p.Ser1276= Multiple submitters
- c.1107-14C>T Single submitter
- c.1273+13C>T Single submitter
- c.1699-6G>A Single submitter
- c.2115+10A>G Single submitter
- c.2269-13G>A Single submitter
- c.2346+8G>A Single submitter
- c.2671-15C>T Single submitter
- c.2752-11C>T Single submitter
- c.277+10C>T Single submitter
- c.3414+13dup Single submitter
- c.357-8C>T Single submitter
- c.3603+6C>T Single submitter
- c.3714+19C>T Single submitter
- c.3714+20G>A Single submitter
- c.3771+13G>A Single submitter
- c.3847-4C>T Single submitter
- c.4018-8C>G Single submitter
- c.4178-14C>T Single submitter
- c.4178-7C>G Single submitter
- c.4696-15C>T Single submitter
- c.4770+8del Single submitter
- c.503+19C>G Single submitter
- c.504-8C>T Single submitter
- c.567+12C>G Single submitter
- c.567+3G>T Single submitter
- c.643-10C>T Single submitter
- c.788-17T>C Single submitter
- c.906+6G>T Single submitter
- c.907-14C>T Single submitter
- p.Ala1272= Single submitter
- p.Ala1407Val Single submitter
- p.Ala1447= Single submitter
- p.Ala326Val Single submitter
- p.Ala348= Single submitter
- p.Ala376= Single submitter
- p.Ala508Ser Single submitter
- p.Ala516= Single submitter
- p.Ala624= Single submitter
- p.Ala701= Single submitter
- p.Ala743= Single submitter
- p.Ala769= Single submitter
- p.Ala906= Single submitter
- p.Arg1080Gln Single submitter
- p.Arg1152= Single submitter
- p.Arg1466= Single submitter
- p.Arg256Gln Single submitter
- p.Arg397= Single submitter
- p.Arg582Gly Single submitter
- p.Asp260= Single submitter
- p.Asp574= Single submitter
- p.Cys496Tyr Single submitter
- p.Gln208= Single submitter
- p.Glu1100= Single submitter
- p.Glu690= Single submitter
- p.Gly1569= Single submitter
- p.Gly579Arg Single submitter
- p.Gly790= Single submitter
- p.Gly888= Single submitter
- p.His613= Single submitter
- p.His650= Single submitter
- p.His794= Single submitter
- p.Leu120= Single submitter
- p.Leu140= Single submitter
- p.Leu170= Single submitter
- p.Leu239= Single submitter
- p.Leu363= Single submitter
- p.Leu58= Single submitter
- p.Leu781= Single submitter
- p.Leu846= Single submitter
- p.Leu954Pro Single submitter
- p.Lys1507= Single submitter
- p.Lys694Glu Single submitter
- p.Phe1192= Single submitter
- p.Pro1043= Single submitter
- p.Pro1275= Single submitter
- p.Pro1457= Single submitter
- p.Pro1481= Single submitter
- p.Pro1556= Single submitter
- p.Pro328= Single submitter
- p.Pro374= Single submitter
- p.Pro856= Single submitter
- p.Pro940= Single submitter
- p.Pro985Leu Single submitter
- p.Ser1179Gly Single submitter
- p.Ser1285= Single submitter
- p.Ser1639= Single submitter
- p.Ser853= Single submitter
- p.Thr1142Met Single submitter
- p.Thr1185= Single submitter
- p.Thr282= Single submitter
- p.Thr730= Single submitter
- p.Thr966= Single submitter
- p.Tyr32= Single submitter
- p.Val1473Met Single submitter
- p.Val894Ile Single submitter
- c.2179-10C>T No assertion criteria SCRIB-related disorder
- c.3714+7G>A No assertion criteria SCRIB-related disorder
- c.3715-19TGCTC[4] No assertion criteria SCRIB-related disorder
- c.3910-3dup No assertion criteria SCRIB-related disorder
- c.4018-6C>T No assertion criteria SCRIB-related disorder
- c.4514+8C>T No assertion criteria SCRIB-related disorder
- c.4515-4G>A No assertion criteria SCRIB-related disorder
- c.643-4G>A No assertion criteria SCRIB-related disorder
- c.907-4C>G No assertion criteria SCRIB-related disorder
- c.907-4C>T No assertion criteria SCRIB-related disorder
- p.Asp1197= No assertion criteria SCRIB-related disorder
- p.Asp889= No assertion criteria SCRIB-related disorder
- p.Cys279= No assertion criteria SCRIB-related disorder
- p.Glu1425Lys No assertion criteria SCRIB-related disorder
- p.Glu679del No assertion criteria SCRIB-related disorder
- p.Pro1476= No assertion criteria SCRIB-related disorder
- p.Pro421= No assertion criteria SCRIB-related disorder
- p.Pro76= No assertion criteria SCRIB-related disorder
- p.Pro985= No assertion criteria SCRIB-related disorder
- p.Ser1022= No assertion criteria SCRIB-related disorder
- p.Thr1142= No assertion criteria SCRIB-related disorder
- p.Thr400= No assertion criteria SCRIB-related disorder
- p.Val339= No assertion criteria SCRIB-related disorder
Uncertain significance 355
Showing the top 300 by review status; the full set is in the sitemap.
- c.504-3C>T Single submitter
- p.Ala1010Thr Single submitter ⚠
- p.Ala1048Thr Single submitter ⚠
- p.Ala1119Pro Single submitter ⚠
- p.Ala1198Gly Single submitter ⚠
- p.Ala1253Pro Single submitter ⚠
- p.Ala1253Thr Single submitter ⚠
- p.Ala1256fs Single submitter
- p.Ala1257Ser Single submitter ⚠
- p.Ala1270Gly Single submitter ⚠
- p.Ala1273Thr Single submitter ⚠
- p.Ala1325Val Single submitter ⚠
- p.Ala1347Gly Single submitter ⚠
- p.Ala134Val Single submitter ⚠
- p.Ala1414Pro Single submitter ⚠
- p.Ala1414Val Single submitter ⚠
- p.Ala1456Thr Single submitter ⚠
- p.Ala1484Val Single submitter ⚠
- p.Ala1513Thr Single submitter ⚠
- p.Ala1516Thr Single submitter ⚠
- p.Ala1537Val Single submitter ⚠
- p.Ala1543Gly Single submitter ⚠
- p.Ala1578Ser Single submitter
- p.Ala376Thr Single submitter ⚠
- p.Ala392Val Single submitter ⚠
- p.Ala453Val Single submitter ⚠
- p.Ala463Thr Single submitter ⚠
- p.Ala508Thr Single submitter ⚠
- p.Ala572Pro Single submitter
- p.Ala591Val Single submitter ⚠
- p.Ala624Thr Single submitter ⚠
- p.Ala651Pro Single submitter ⚠
- p.Ala657Val Single submitter ⚠
- p.Ala682Thr Single submitter ⚠
- p.Ala770Val Single submitter ⚠
- p.Ala796fs Single submitter SCRIB-related disorder
- p.Ala822Val Single submitter ⚠
- p.Ala890Val Single submitter ⚠
- p.Ala898Pro Single submitter ⚠
- p.Ala926Thr Single submitter ⚠
- p.Ala931Val Single submitter ⚠
- p.Ala937Thr Single submitter ⚠
- p.Ala937Val Single submitter ⚠
- p.Ala943Thr Single submitter ⚠
- p.Ala967Thr Single submitter ⚠
- p.Ala967Val Single submitter ⚠
- p.Ala995Pro Single submitter ⚠
- p.Ala995Val Single submitter ⚠
- p.Arg1080Trp Single submitter ⚠
- p.Arg1090Gln Single submitter ⚠
- p.Arg1099Gln Single submitter ⚠
- p.Arg1099Trp Single submitter ⚠
- p.Arg1116His Single submitter ⚠
- p.Arg1147Cys Single submitter
- p.Arg1150Trp Single submitter
- p.Arg1152Cys Single submitter ⚠
- p.Arg1152His Single submitter ⚠
- p.Arg1229Trp Single submitter ⚠
- p.Arg1259Gln Single submitter ⚠
- p.Arg128Cys Single submitter
- p.Arg1355Trp Single submitter ⚠
- p.Arg1357Gln Single submitter ⚠
- p.Arg1366His Single submitter ⚠
- p.Arg1386Trp Single submitter ⚠
- p.Arg1405Trp Single submitter ⚠
- p.Arg1459Gln Single submitter
- p.Arg1465Trp Single submitter ⚠
- p.Arg1483His Single submitter ⚠
- p.Arg1491Trp Single submitter ⚠
- p.Arg1515Gln Single submitter ⚠
- p.Arg1527Gln Single submitter ⚠
- p.Arg1527Trp Single submitter ⚠
- p.Arg1530Gln Single submitter ⚠
- p.Arg1530Trp Single submitter ⚠
- p.Arg1564His Single submitter ⚠
- p.Arg1640Cys Single submitter ⚠
- p.Arg1640His Single submitter ⚠
- p.Arg1641Cys Single submitter
- p.Arg1641Leu Single submitter
- p.Arg1647His Single submitter
- p.Arg221Cys Single submitter ⚠
- p.Arg231Gln Single submitter SCRIB-related disorder ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg257Thr Single submitter ⚠
- p.Arg277Trp Single submitter ⚠
- p.Arg306Gly Single submitter ⚠
- p.Arg321Gln Single submitter
- p.Arg346Cys Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg397Gln Single submitter ⚠
- p.Arg405Leu Single submitter ⚠
- p.Arg405Trp Single submitter ⚠
- p.Arg444His Single submitter ⚠
- p.Arg472Cys Single submitter ⚠
- p.Arg473Gln Single submitter ⚠
- p.Arg486Lys Single submitter ⚠
- p.Arg491Gln Single submitter ⚠
- p.Arg513Gln Single submitter ⚠
- p.Arg525Cys Single submitter ⚠
- p.Arg525Ser Single submitter ⚠
- p.Arg57Trp Single submitter ⚠
- p.Arg656Gln Single submitter ⚠
- p.Arg656Trp Single submitter ⚠
- p.Arg681Lys Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Arg73Trp Single submitter ⚠
- p.Arg762Trp Single submitter ⚠
- p.Arg771Gln Single submitter ⚠
- p.Arg771Trp Single submitter ⚠
- p.Arg775His Single submitter ⚠
- p.Arg815His Single submitter ⚠
- p.Arg829Gln Single submitter ⚠
- p.Arg839Trp Single submitter ⚠
- p.Arg845Cys Single submitter ⚠
- p.Arg858His Single submitter ⚠
- p.Arg867Cys Single submitter ⚠
- p.Arg870Met Single submitter ⚠
- p.Arg905Leu Single submitter ⚠
- p.Arg914Cys Single submitter
- p.Arg914His Single submitter ⚠
- p.Arg914Leu Single submitter ⚠
- p.Asn1125Thr Single submitter ⚠
- p.Asn11Ser Single submitter ⚠
- p.Asn1316Ser Single submitter ⚠
- p.Asn149Lys Single submitter ⚠
- p.Asn152Ser Single submitter ⚠
- p.Asn647His Single submitter ⚠
- p.Asp1128Asn Single submitter ⚠
- p.Asp1148Asn Single submitter ⚠
- p.Asp1182Asn Single submitter ⚠
- p.Asp1197His Single submitter ⚠
- p.Asp1228Asn Single submitter
- p.Asp1335Asn Single submitter ⚠
- p.Asp1430Asn Single submitter ⚠
- p.Asp1553Gly Single submitter ⚠
- p.Asp1588Asn Single submitter
- p.Asp402Asn Single submitter ⚠
- p.Asp439Asn Single submitter ⚠
- p.Asp606Gly Single submitter ⚠
- p.Asp693Asn Single submitter ⚠
- p.Gln1281His Single submitter ⚠
- p.Gln1369His Single submitter ⚠
- p.Gln1444His Single submitter ⚠
- p.Gln264Ter Single submitter
- p.Gln275Arg Single submitter ⚠
- p.Gln393Arg Single submitter
- p.Gln419Arg Single submitter ⚠
- p.Gln449Arg Single submitter ⚠
- p.Gln544Arg Single submitter ⚠
- p.Glu1109Lys Single submitter ⚠
- p.Glu1241Lys Single submitter ⚠
- p.Glu1252Lys Single submitter ⚠
- p.Glu1255Lys Single submitter ⚠
- p.Glu1371Lys Single submitter ⚠
- p.Glu1392Ala Single submitter
- p.Glu1426Gly Single submitter ⚠
- p.Glu1429Asp Single submitter ⚠
- p.Glu1482Lys Single submitter ⚠
- p.Glu1489Lys Single submitter ⚠
- p.Glu1496Lys Single submitter ⚠
- p.Glu1611Lys Single submitter ⚠
- p.Glu1632Gln Single submitter ⚠
- p.Glu229Gly Single submitter ⚠
- p.Glu234Lys Single submitter ⚠
- p.Glu30Asp Single submitter ⚠
- p.Glu30Gln Single submitter ⚠
- p.Glu325Lys Single submitter ⚠
- p.Glu408Lys Single submitter ⚠
- p.Glu458Lys Single submitter ⚠
- p.Glu480Gly Single submitter ⚠
- p.Glu480Lys Single submitter ⚠
- p.Glu489Lys Single submitter ⚠
- p.Glu509Lys Single submitter ⚠
- p.Glu517Ter Single submitter
- p.Glu537Lys Single submitter ⚠
- p.Glu561Lys Single submitter ⚠
- p.Glu585Lys Single submitter ⚠
- p.Glu586Lys Single submitter ⚠
- p.Glu623Lys Single submitter ⚠
- p.Glu660Val Single submitter ⚠
- p.Glu663Lys Single submitter ⚠
- p.Glu672Lys Single submitter ⚠
- p.Glu676Asp Single submitter ⚠
- p.Glu676Lys Single submitter ⚠
- p.Glu691Asp Single submitter ⚠
- p.Glu691Lys Single submitter ⚠
- p.Glu756Lys Single submitter
- p.Glu795Lys Single submitter ⚠
- p.Glu820Gln Single submitter ⚠
- p.Glu997Gln Single submitter ⚠
- p.Gly1063Arg Single submitter ⚠
- p.Gly1133Val Single submitter ⚠
- p.Gly1146Arg Single submitter ⚠
- p.Gly1286Arg Single submitter ⚠
- p.Gly1289Arg Single submitter ⚠
- p.Gly1411Arg Single submitter ⚠
- p.Gly1411Glu Single submitter ⚠
- p.Gly1424Ser Single submitter ⚠
- p.Gly1627Asp Single submitter ⚠
- p.Gly1627Ser Single submitter ⚠
- p.Gly1627Val Single submitter ⚠
- p.Gly194Arg Single submitter ⚠
- p.Gly241Glu Single submitter
- p.Gly333Ser Single submitter ⚠
- p.Gly407Ser Single submitter ⚠
- p.Gly469Asp Single submitter
- p.Gly667Asp Single submitter ⚠
- p.Gly747Ser Single submitter
- p.Gly951Trp Single submitter ⚠
- p.His1217Gln Single submitter ⚠
- p.His132Tyr Single submitter ⚠
- p.His477Tyr Single submitter ⚠
- p.His646Leu Single submitter ⚠
- p.His904Asn Single submitter ⚠
- p.Ile1038Val Single submitter ⚠
- p.Ile109Val Single submitter ⚠
- p.Ile31Val Single submitter ⚠
- p.Ile5Leu Single submitter ⚠
- p.Ile5Val Single submitter ⚠
- p.Ile71Leu Single submitter ⚠
- p.Ile760Val Single submitter ⚠
- p.Ile918Val Single submitter ⚠
- p.Leu117fs Single submitter
- p.Leu117Val Single submitter ⚠
- p.Leu1200Arg Single submitter ⚠
- p.Leu1264Arg Single submitter ⚠
- p.Leu1363Val Single submitter ⚠
- p.Leu1452Val Single submitter ⚠
- p.Leu216Val Single submitter ⚠
- p.Leu242Val Single submitter ⚠
- p.Leu254Val Single submitter ⚠
- p.Leu396Phe Single submitter ⚠
- p.Leu520Pro Single submitter ⚠
- p.Leu595Arg Single submitter ⚠
- p.Leu727Met Single submitter ⚠
- p.Leu848Arg Single submitter ⚠
- p.Leu909Val Single submitter ⚠
- p.Leu954Phe Single submitter ⚠
- p.Lys1040Thr Single submitter ⚠
- p.Lys1395Glu Single submitter ⚠
- p.Lys1571Gln Single submitter
- p.Lys313Thr Single submitter
- p.Lys615Glu Single submitter ⚠
- p.Lys618Gln Single submitter ⚠
- p.Lys880Arg Single submitter ⚠
- p.Met632Arg Single submitter ⚠
- p.Phe1572Cys Single submitter
- p.Phe1577Tyr Single submitter
- p.Phe759Leu Single submitter ⚠
- p.Phe893Cys Single submitter ⚠
- p.Pro1013Leu Single submitter
- p.Pro1034Leu Single submitter
- p.Pro1093Leu Single submitter
- p.Pro1296Ser Single submitter ⚠
- p.Pro1304Leu Single submitter ⚠
- p.Pro1308Leu Single submitter ⚠
- p.Pro1310Leu Single submitter ⚠
- p.Pro1314Ser Single submitter ⚠
- p.Pro1340Ser Single submitter ⚠
- p.Pro1341Leu Single submitter ⚠
- p.Pro1345His Single submitter ⚠
- p.Pro1433Leu Single submitter ⚠
- p.Pro1433Ser Single submitter ⚠
- p.Pro1433Thr Single submitter ⚠
- p.Pro1440Ser Single submitter ⚠
- p.Pro1446Leu Single submitter ⚠
- p.Pro1451Leu Single submitter ⚠
- p.Pro1476Leu Single submitter ⚠
- p.Pro1479Arg Single submitter ⚠
- p.Pro1481Ser Single submitter ⚠
- p.Pro1550Ala Single submitter ⚠
- p.Pro1562Gln Single submitter ⚠
- p.Pro1562Leu Single submitter ⚠
- p.Pro1566Leu Single submitter
- p.Pro1654Ser Single submitter ⚠
- p.Pro190Ala Single submitter ⚠
- p.Pro213Ser Single submitter ⚠
- p.Pro328Leu Single submitter ⚠
- p.Pro352Ser Single submitter ⚠
- p.Pro454Leu Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Pro539Leu Single submitter ⚠
- p.Pro642Ser Single submitter ⚠
- p.Pro702Leu Single submitter ⚠
- p.Pro702Ser Single submitter ⚠
- p.Pro750Ser Single submitter ⚠
- p.Pro827Ser Single submitter ⚠
- p.Pro850Leu Single submitter ⚠
- p.Pro856Ala Single submitter ⚠
- p.Pro884Leu Single submitter ⚠
- p.Pro940His Single submitter ⚠
- p.Pro958Ser Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Pro964Ser Single submitter ⚠
- p.Pro979Ala Single submitter ⚠
- p.Pro985Arg Single submitter ⚠
- p.Ser1017Thr Single submitter ⚠
- p.Ser1022Ala Single submitter ⚠
- p.Ser1022Cys Single submitter ⚠
- p.Ser1179Asn Single submitter ⚠