NIN — 966 ClinVar variants
All ClinVar germline NIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 537 flagged for review →
2 Pathogenic · 3 Likely pathogenic · 26 Conflicting · 93 Benign · 8 Benign/Likely benign · 246 Likely benign · 588 Uncertain significance
Full NIN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 537
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 agree, ClinVar conflicts 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- NIN p.Ala1120Val Conflicting Single submitter
- NIN p.Arg1153Gln Conflicting Single submitter
- NIN p.Arg1633Gln Conflicting Single submitter
- NIN p.Arg1784Gln Conflicting Single submitter
- NIN p.Arg1999His Conflicting Single submitter
- NIN p.Arg2052Gly Conflicting Single submitter
- NIN p.Arg542Gln Conflicting Single submitter
- NIN p.Arg634His Conflicting Single submitter
- NIN p.Arg839His Conflicting Single submitter
- NIN p.Gln1204Arg Conflicting Single submitter
- NIN p.Glu1353Asp Conflicting Single submitter
- NIN p.Lys902Glu Conflicting Single submitter
- NIN p.Met1898Val Conflicting Single submitter
-
NIN p.Pro1971Gln
Conflicting
Single submitter
Seckel syndrome 7
- NIN p.Thr1132Met Conflicting Single submitter
- NIN p.Thr771Lys Conflicting Single submitter
- NIN p.Val1339Met Conflicting Single submitter
- NIN p.Val1775Leu Conflicting Single submitter
- NIN p.Val1775Met Conflicting Single submitter
- NIN p.Val889Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 456
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 456
- NIN p.Ala1049Thr Uncertain significance Multiple submitters
- NIN p.Ala1212Val Uncertain significance Multiple submitters
- NIN p.Ala1350Gly Uncertain significance Multiple submitters
- NIN p.Ala1741Val Uncertain significance Multiple submitters
- NIN p.Ala1755Thr Uncertain significance Multiple submitters
- NIN p.Ala1755Val Uncertain significance Multiple submitters
- NIN p.Ala1813Gly Uncertain significance Multiple submitters
- NIN p.Ala1819Asp Uncertain significance Multiple submitters
- NIN p.Ala432Val Uncertain significance Multiple submitters
- NIN p.Ala870Val Uncertain significance Multiple submitters
- NIN p.Arg1003Gln Uncertain significance Multiple submitters
- NIN p.Arg1090Thr Uncertain significance Multiple submitters
- NIN p.Arg1153Trp Uncertain significance Multiple submitters
- NIN p.Arg1216Gln Uncertain significance Multiple submitters
- NIN p.Arg1272His Uncertain significance Multiple submitters
- NIN p.Arg134Gln Uncertain significance Multiple submitters
- NIN p.Arg1613His Uncertain significance Multiple submitters
- NIN p.Arg1874Trp Uncertain significance Multiple submitters
- NIN p.Arg1878Cys Uncertain significance Multiple submitters
- NIN p.Arg1878His Uncertain significance Multiple submitters
- NIN p.Arg2039Gln Uncertain significance Multiple submitters
- NIN p.Arg370Gln Uncertain significance Multiple submitters
- NIN p.Arg387Gln Uncertain significance Multiple submitters
- NIN p.Arg387Trp Uncertain significance Multiple submitters
- NIN p.Arg414Gln Uncertain significance Multiple submitters
- NIN p.Arg438Gln Uncertain significance Multiple submitters
- NIN p.Arg472His Uncertain significance Multiple submitters
- NIN p.Arg562His Uncertain significance Multiple submitters
- NIN p.Arg569Ser Uncertain significance Multiple submitters
- NIN p.Arg634Cys Uncertain significance Multiple submitters
- NIN p.Arg77Gly Uncertain significance Multiple submitters
- NIN p.Arg809Gly Uncertain significance Multiple submitters
- NIN p.Arg839Cys Uncertain significance Multiple submitters
- NIN p.Arg951Cys Uncertain significance Multiple submitters
- NIN p.Asn1130His Uncertain significance Multiple submitters
- NIN p.Asn355Asp Uncertain significance Multiple submitters
- NIN p.Asn418Ser Uncertain significance Multiple submitters
- NIN p.Asp1149Ala Uncertain significance Multiple submitters
- NIN p.Asp274Asn Uncertain significance Multiple submitters
- NIN p.Cys869Arg Uncertain significance Multiple submitters
- NIN p.Gln1033Lys Uncertain significance Multiple submitters
- NIN p.Gln1096Arg Uncertain significance Multiple submitters
- NIN p.Gln1134Pro Uncertain significance Multiple submitters
- NIN p.Gln315Lys Uncertain significance Multiple submitters
- NIN p.Gln505Glu Uncertain significance Multiple submitters
- NIN p.Gln746His Uncertain significance Multiple submitters
- NIN p.Glu1007Lys Uncertain significance Multiple submitters
- NIN p.Glu1167Lys Uncertain significance Multiple submitters
- NIN p.Glu1178Lys Uncertain significance Multiple submitters
- NIN p.Glu1243Gln Uncertain significance Multiple submitters
- NIN p.Glu1333Lys Uncertain significance Multiple submitters
- NIN p.Glu1349Lys Uncertain significance Multiple submitters
- NIN p.Glu1522Gln Uncertain significance Multiple submitters
- NIN p.Glu1911Asp Uncertain significance Multiple submitters
- NIN p.Glu1955Lys Uncertain significance Multiple submitters
- NIN p.Glu2021Lys Uncertain significance Multiple submitters
- NIN p.Glu466Asp Uncertain significance Multiple submitters
- NIN p.Glu590Lys Uncertain significance Multiple submitters
- NIN p.Glu87Lys Uncertain significance Multiple submitters
- NIN p.Glu953Val Uncertain significance Multiple submitters
- NIN p.Glu970Gly Uncertain significance Multiple submitters
- NIN p.Gly1330Ser Uncertain significance Multiple submitters
- NIN p.Gly141Ser Uncertain significance Multiple submitters
- NIN p.Gly1828Ala Uncertain significance Multiple submitters
- NIN p.His1142Tyr Uncertain significance Multiple submitters
- NIN p.His1738Asn Uncertain significance Multiple submitters
- NIN p.His1807Gln Uncertain significance Multiple submitters
- NIN p.His1825Tyr Uncertain significance Multiple submitters
- NIN p.His63Tyr Uncertain significance Multiple submitters
- NIN p.His904Gln Uncertain significance Multiple submitters
- NIN p.Ile1170Thr Uncertain significance Multiple submitters
- NIN p.Ile1241Leu Uncertain significance Multiple submitters
- NIN p.Ile1384Thr Uncertain significance Multiple submitters
- NIN p.Ile210Met Uncertain significance Multiple submitters
- NIN p.Leu1250Pro Uncertain significance Multiple submitters
- NIN p.Leu1618Arg Uncertain significance Multiple submitters
- NIN p.Leu344Val Uncertain significance Multiple submitters
- NIN p.Leu572Ser Uncertain significance Multiple submitters
- NIN p.Leu890Val Uncertain significance Multiple submitters
- NIN p.Lys1487Glu Uncertain significance Multiple submitters
- NIN p.Lys1557Asn Uncertain significance Multiple submitters
- NIN p.Lys1570Asn Uncertain significance Multiple submitters
- NIN p.Lys251Asn Uncertain significance Multiple submitters
- NIN p.Lys439Glu Uncertain significance Multiple submitters
- NIN p.Lys573Asn Uncertain significance Multiple submitters
- NIN p.Met1617Ile Uncertain significance Multiple submitters
- NIN p.Met1782Ile Uncertain significance Multiple submitters
- NIN p.Met286Thr Uncertain significance Multiple submitters
- NIN p.Pro1246Ala Uncertain significance Multiple submitters
- NIN p.Pro1987Leu Uncertain significance Multiple submitters
- NIN p.Pro1987Ser Uncertain significance Multiple submitters
- NIN p.Pro1990Ser Uncertain significance Multiple submitters
- NIN p.Pro571Arg Uncertain significance Multiple submitters
-
NIN p.Ser1009Asn
Uncertain significance
Multiple submitters
Seckel syndrome 7
- NIN p.Ser1181Cys Uncertain significance Multiple submitters
- NIN p.Ser1538Arg Uncertain significance Multiple submitters
- NIN p.Ser1749Phe Uncertain significance Multiple submitters
- NIN p.Ser985Cys Uncertain significance Multiple submitters
- NIN p.Thr1473Ile Uncertain significance Multiple submitters
- NIN p.Thr1669Asn Uncertain significance Multiple submitters
- NIN p.Thr197Ile Uncertain significance Multiple submitters
- NIN p.Thr2019Ala Uncertain significance Multiple submitters
- NIN p.Thr254Ile Uncertain significance Multiple submitters
- NIN p.Thr826Ala Uncertain significance Multiple submitters
- NIN p.Thr886Asn Uncertain significance Multiple submitters
- NIN p.Val1066Ile Uncertain significance Multiple submitters
- NIN p.Val1135Ile Uncertain significance Multiple submitters
- NIN p.Val1163Leu Uncertain significance Multiple submitters
-
NIN p.Val117Met
Uncertain significance
Multiple submitters
Seckel syndrome 7
-
NIN p.Val1768Phe
Uncertain significance
Multiple submitters
Seckel syndrome 7
- NIN p.Val774Ala Uncertain significance Multiple submitters
- NIN p.Ala1049Pro Uncertain significance Single submitter
- NIN p.Ala1077Thr Uncertain significance Single submitter
- NIN p.Ala1085Val Uncertain significance Single submitter
- NIN p.Ala1566Gly Uncertain significance Single submitter
- NIN p.Ala1660Val Uncertain significance Single submitter
- NIN p.Ala1819Ser Uncertain significance Single submitter
- NIN p.Ala1868Asp Uncertain significance Single submitter
- NIN p.Ala1967Val Uncertain significance Single submitter
- NIN p.Ala285Thr Uncertain significance Single submitter
- NIN p.Ala360Val Uncertain significance Single submitter
- NIN p.Ala361Thr Uncertain significance Single submitter
- NIN p.Ala361Val Uncertain significance Single submitter
- NIN p.Ala363Val Uncertain significance Single submitter
- NIN p.Ala409Thr Uncertain significance Single submitter
- NIN p.Ala409Val Uncertain significance Single submitter
- NIN p.Ala462Thr Uncertain significance Single submitter
- NIN p.Ala582Ser Uncertain significance Single submitter
- NIN p.Ala832Gly Uncertain significance Single submitter
- NIN p.Ala832Thr Uncertain significance Single submitter
- NIN p.Ala832Val Uncertain significance Single submitter
- NIN p.Ala958Thr Uncertain significance Single submitter
- NIN p.Ala996Gly Uncertain significance Single submitter
- NIN p.Arg1005Thr Uncertain significance Single submitter
- NIN p.Arg100Lys Uncertain significance Single submitter
- NIN p.Arg104Cys Uncertain significance Single submitter
- NIN p.Arg104His Uncertain significance Single submitter
- NIN p.Arg1090Gly Uncertain significance Single submitter
- NIN p.Arg1131Gln Uncertain significance Single submitter
- NIN p.Arg1141Gln Uncertain significance Single submitter
- NIN p.Arg1141Trp Uncertain significance Single submitter
- NIN p.Arg1190Ser Uncertain significance Single submitter
- NIN p.Arg1272Cys Uncertain significance Single submitter
- NIN p.Arg1342Gln Uncertain significance Single submitter
- NIN p.Arg134Trp Uncertain significance Single submitter
- NIN p.Arg151His Uncertain significance Single submitter
- NIN p.Arg1633Trp Uncertain significance Single submitter
- NIN p.Arg1646Cys Uncertain significance Single submitter
- NIN p.Arg1784Trp Uncertain significance Single submitter
- NIN p.Arg1874Gln Uncertain significance Single submitter
Predictors split 61
The independent predictors disagree with each other — read with care.
- NIN p.Arg1003Gly Uncertain significance Multiple submitters
- NIN p.Arg198Cys Uncertain significance Multiple submitters
- NIN p.Arg413Trp Uncertain significance Multiple submitters
- NIN p.Gln1587Pro Uncertain significance Multiple submitters
- NIN p.Glu1457Gly Uncertain significance Multiple submitters
- NIN p.Ile74Phe Uncertain significance Multiple submitters
- NIN p.Leu1461Val Uncertain significance Multiple submitters
- NIN p.Leu1607Pro Uncertain significance Multiple submitters
- NIN p.Leu629Phe Uncertain significance Multiple submitters
- NIN p.Lys397Gln Uncertain significance Multiple submitters
- NIN p.Val511Glu Uncertain significance Multiple submitters
- NIN p.Ala816Pro Uncertain significance Single submitter
- NIN p.Arg1005Gly Uncertain significance Single submitter
- NIN p.Arg100Ser Uncertain significance Single submitter
- NIN p.Arg198Gly Uncertain significance Single submitter
- NIN p.Arg293Trp Uncertain significance Single submitter
- NIN p.Arg370Trp Conflicting Single submitter
- NIN p.Arg414Trp Uncertain significance Single submitter
- NIN p.Arg470Trp Conflicting Single submitter
- NIN p.Arg537Ser Uncertain significance Single submitter
- NIN p.Arg740Trp Uncertain significance Single submitter
- NIN p.Asn1593Asp Uncertain significance Single submitter
- NIN p.Asn355Lys Uncertain significance Single submitter
- NIN p.Asp299Gly Uncertain significance Single submitter
- NIN p.Asp471Glu Uncertain significance Single submitter
- NIN p.Asp520His Benign Single submitter
- NIN p.Asp552His Uncertain significance Single submitter
- NIN p.Asp552Val Uncertain significance Single submitter
- NIN p.Gln1950Pro Uncertain significance Single submitter
- NIN p.Gln2009Pro Uncertain significance Single submitter
- NIN p.Gln848Pro Uncertain significance Single submitter
- NIN p.Glu1645Gly Uncertain significance Single submitter
- NIN p.Glu1675Val Uncertain significance Single submitter
- NIN p.Glu382Gln Uncertain significance Single submitter
- NIN p.Glu479Gly Uncertain significance Single submitter
- NIN p.Glu479Lys Uncertain significance Single submitter
- NIN p.Glu486Gly Uncertain significance Single submitter
- NIN p.Glu806Lys Uncertain significance Single submitter
- NIN p.Glu893Gly Uncertain significance Single submitter
- NIN p.Gly102Glu Uncertain significance Single submitter
- NIN p.His994Pro Uncertain significance Single submitter
- NIN p.Leu1231Val Uncertain significance Single submitter
- NIN p.Leu1277Pro Uncertain significance Single submitter
- NIN p.Leu1859His Uncertain significance Single submitter
- NIN p.Leu1870Val Uncertain significance Single submitter
- NIN p.Leu1995Pro Uncertain significance Single submitter
- NIN p.Leu224Pro Uncertain significance Single submitter
- NIN p.Leu504Ile Uncertain significance Single submitter
- NIN p.Leu75Phe Uncertain significance Single submitter
- NIN p.Lys103Met Uncertain significance Single submitter
- NIN p.Lys2046Asn Uncertain significance Single submitter
- NIN p.Lys392Thr Uncertain significance Single submitter
- NIN p.Lys421Glu Uncertain significance Single submitter
- NIN p.Phe860Ser Uncertain significance Single submitter
- NIN p.Ser109Phe Uncertain significance Single submitter
-
NIN p.Ser1759Pro
Uncertain significance
Single submitter
Seckel syndrome
- NIN p.Ser985Tyr Uncertain significance Single submitter
- NIN p.Trp147Arg Uncertain significance Single submitter
- NIN p.Tyr1252Asp Uncertain significance Single submitter
- NIN p.Tyr155Cys Uncertain significance Single submitter
- NIN p.Val1066Asp Conflicting Single submitter
All NIN variants
Pathogenic 2
- p.Arg828fs Single submitter Seckel syndrome 7
- p.Asn1367fs Single submitter Seckel syndrome 7
Likely pathogenic 3
- p.Arg2039Ter Multiple submitters Joubert syndrome 3
- c.6079-1686G>A Single submitter Seckel syndrome 7
- p.Gln764Ter Single submitter Seckel syndrome 7
Conflicting classifications of pathogenicity 26
- p.Ala1120Val Single submitter ⚠
- p.Arg1153Gln Single submitter ⚠
- p.Arg1633Gln Single submitter ⚠
- p.Arg1784Gln Single submitter ⚠
- p.Arg1999His Single submitter ⚠
- p.Arg2052Gly Single submitter ⚠
- p.Arg370Trp Single submitter ⚠
- p.Arg470Trp Single submitter ⚠
- p.Arg542Gln Single submitter ⚠
- p.Arg634His Single submitter ⚠
- p.Arg839His Single submitter ⚠
- p.Gln1204Arg Single submitter ⚠
- p.Glu1353Asp Single submitter ⚠
- p.Leu1730= Single submitter
- p.Lys881fs Single submitter Seckel syndrome 7
- p.Lys902Glu Single submitter ⚠
- p.Met1898Val Single submitter ⚠
- p.Pro1971Gln Single submitter Seckel syndrome 7 ⚠
- p.Thr1132Met Single submitter ⚠
- p.Thr149= Single submitter
- p.Thr771Lys Single submitter ⚠
- p.Val1066Asp Single submitter ⚠
- p.Val1339Met Single submitter ⚠
- p.Val1775Leu Single submitter ⚠
- p.Val1775Met Single submitter ⚠
- p.Val889Leu Single submitter ⚠
Benign 93
- c.1259+132G>A Multiple submitters
- c.1774+99A>C Multiple submitters
- c.1775-26G>C Multiple submitters Seckel syndrome 7
- c.1775-53C>T Multiple submitters
- c.1775-94C>T Multiple submitters
- c.2399+136G>C Multiple submitters
- c.436-144A>G Multiple submitters
- c.4538+104C>A Multiple submitters
- c.4539-87T>G Multiple submitters
- c.4950+137G>A Multiple submitters
- c.4951-107A>G Multiple submitters
- c.5448+89G>A Multiple submitters
- c.5628+5T>C Multiple submitters Seckel syndrome 7
- c.5775+16T>C Multiple submitters
- c.6078+99A>G Multiple submitters
- c.6192+100C>G Multiple submitters
- c.6192+12C>T Multiple submitters Seckel syndrome 7
- c.6192+176C>T Multiple submitters
- c.666+105A>G Multiple submitters
- c.814-130G>A Multiple submitters
- c.814-131T>A Multiple submitters
- c.814-196C>T Multiple submitters
- c.981+260G>T Multiple submitters
- p.Ala872= Multiple submitters Seckel syndrome 7
- p.Ala996= Multiple submitters
- p.Arg1153= Multiple submitters
- p.Arg1613Cys Multiple submitters
- p.Gln1125Pro Multiple submitters Seckel syndrome 7
- p.Gln1879= Multiple submitters Seckel syndrome 7
- p.Gln1934Glu Multiple submitters Seckel syndrome 7
- p.Gln892= Multiple submitters
- p.Gly1320Glu Multiple submitters Seckel syndrome 7
- p.Gly200= Multiple submitters
- p.Ile1671Val Multiple submitters
- p.Leu1596= Multiple submitters
- p.Leu311= Multiple submitters Seckel syndrome 7
- p.Lys884Arg Multiple submitters
- p.Phe273= Multiple submitters
- p.Pro1111Ala Multiple submitters Seckel syndrome 7
- p.Ser1030= Multiple submitters
- p.Ser1837Thr Multiple submitters
- p.Ser748= Multiple submitters
- p.Thr1465= Multiple submitters
- p.Thr1558= Multiple submitters
- p.Thr1968Met Multiple submitters
- p.Val1152Phe Multiple submitters
- p.Val376= Multiple submitters Seckel syndrome 7
- c.1118+169A>G Single submitter
- c.1635+160T>G Single submitter
- c.1774+111_1774+112del Single submitter
- c.1774+112_1774+115del Single submitter
- c.1774+112del Single submitter
- c.1774+184A>G Single submitter
- c.1774+293C>G Single submitter
- c.184-238T>C Single submitter
- c.184-3del Single submitter
- c.184-3dup Single submitter
- c.1897-245A>G Single submitter
- c.2399+239T>C Single submitter
- c.2400-273T>C Single submitter
- c.266-202C>T Single submitter
- c.4735-50del Single submitter
- c.4735-51_4735-50del Single submitter
- c.4735-64dup Single submitter
- c.4951-13A>T Single submitter
- c.5064+235dup Single submitter
- c.5064+241C>T Single submitter
- c.5064+241del Single submitter
- c.5188-158C>T Single submitter
- c.5301+201A>G Single submitter
- c.5301+274dup Single submitter
- c.5448+157A>C Single submitter
- c.5448+18dup Single submitter
- c.5448+63_5448+64insACT Single submitter
- c.5449-248G>A Single submitter
- c.5629-5G>A Single submitter
- c.5775+293C>T Single submitter
- c.5878-216A>G Single submitter
- c.5878-270G>A Single submitter
- c.6078+252dup Single submitter
- c.6078+254A>T Single submitter
- c.814-16C>T Single submitter
- c.981+290del Single submitter
- c.982-217del Single submitter
- p.Ala133= Single submitter
- p.Arg1646His Single submitter
- p.Asn2023Ser Single submitter
- p.Asp520His Single submitter ⚠
- p.Asp641= Single submitter
- p.Gln1125= Single submitter
- p.Glu1869Lys Single submitter
- p.Gly1320= Single submitter
- p.His1382Asp Single submitter
Benign/Likely benign 8
- c.5629-18T>C Multiple submitters
- c.5776-7dup Multiple submitters
- p.Arg204= Multiple submitters
- p.Glu1622Asp Multiple submitters Seckel syndrome 7
- p.Leu1294= Multiple submitters
- p.Leu609= Multiple submitters
- p.Pro576= Multiple submitters Seckel syndrome 7
- p.Pro88= Multiple submitters
Likely benign 246
- c.5448+12T>G Multiple submitters
- c.666+9C>T Multiple submitters
- p.Ala1212= Multiple submitters
- p.Ala1452= Multiple submitters
- p.Ala157= Multiple submitters
- p.Ala432= Multiple submitters
- p.Ala996Val Multiple submitters
- p.Arg134= Multiple submitters
- p.Arg794= Multiple submitters
- p.Asn1318= Multiple submitters
- p.Gln813= Multiple submitters
- p.Glu1265= Multiple submitters
- p.Ile1430Leu Multiple submitters
- p.Leu1108= Multiple submitters
- p.Leu1859= Multiple submitters
- p.Leu2125= Multiple submitters
- p.Leu704= Multiple submitters
- p.Pro1971= Multiple submitters
- p.Pro2124= Multiple submitters
- p.Ser402= Multiple submitters
- p.Tyr105= Multiple submitters
- c.1259+17G>T Single submitter
- c.1260-13T>C Single submitter
- c.1260-19C>T Single submitter
- c.1260-7G>A Single submitter
- c.1260-8C>T Single submitter
- c.1434+13T>C Single submitter
- c.1435-19T>C Single submitter
- c.1545+9G>T Single submitter
- c.1546-4C>G Single submitter
- c.1546-9C>T Single submitter
- c.1635+10C>A Single submitter
- c.1635+17A>C Single submitter
- c.1636-10T>C Single submitter
- c.1636-14T>C Single submitter
- c.1636-5C>G Single submitter
- c.1636-6T>C Single submitter
- c.1774+12C>T Single submitter
- c.1774+13G>A Single submitter
- c.1774+8del Single submitter
- c.184-11A>T Single submitter
- c.184-13T>A Single submitter
- c.184-20C>G Single submitter
- c.1896+13C>T Single submitter
- c.1896+14A>C Single submitter
- c.1896+18A>G Single submitter
- c.1897-9_1897-8del Single submitter
- c.2399+8A>G Single submitter
- c.2400-18T>A Single submitter
- c.2400-7T>C Single submitter
- c.265+8C>G Single submitter
- c.266-17C>T Single submitter
- c.435+12G>T Single submitter
- c.435+15A>G Single submitter
- c.435+20C>T Single submitter
- c.436-13T>G Single submitter
- c.436-5T>C Single submitter
- c.4539-11C>G Single submitter
- c.4539-13C>T Single submitter
- c.4539-15A>T Single submitter
- c.4539-19T>G Single submitter
- c.4539-6C>T Single submitter
- c.4664+12A>T Single submitter
- c.4664+7C>T Single submitter
- c.4664+8G>A Single submitter
- c.4665-11A>G Single submitter
- c.4665-14A>G Single submitter
- c.4665-8C>T Single submitter
- c.4734+18A>G Single submitter
- c.475+10G>C Single submitter
- c.475+12G>C Single submitter
- c.475+14G>A Single submitter
- c.475+17_475+18insGGTAAGAGCCGAGTGTGTG Single submitter
- c.475+9C>T Single submitter
- c.4951-13A>G Single submitter
- c.4951-22_4951-17del Single submitter
- c.5064+11G>A Single submitter
- c.5188-16T>C Single submitter
- c.5302-10C>T Single submitter
- c.5302-11T>C Single submitter
- c.5302-15A>G Single submitter
- c.5302-5T>C Single submitter
- c.5302-8C>T Single submitter
- c.5449-13C>T Single submitter
- c.5628+14C>A Single submitter
- c.5629-12T>G Single submitter
- c.5629-19T>C Single submitter
- c.5629-7C>T Single submitter
- c.5776-6A>C Single submitter
- c.5878-12C>G Single submitter
- c.5878-12C>T Single submitter
- c.5878-17T>C Single submitter
- c.6078+10T>C Single submitter
- c.6078+11C>G Single submitter
- c.6078+13C>G Single submitter
- c.6078+18_6078+22del Single submitter
- c.6079-20T>C Single submitter
- c.6192+13G>A Single submitter
- c.666+13G>A Single submitter
- c.814-13T>C Single submitter
- c.981+13A>G Single submitter
- c.982-19G>A Single submitter
- p.Ala1120= Single submitter
- p.Ala1276= Single submitter
- p.Ala140= Single submitter
- p.Ala1660= Single submitter
- p.Ala1755= Single submitter
- p.Ala1967= Single submitter
- p.Ala524= Single submitter
- p.Ala582Val Single submitter
- p.Ala870= Single submitter
- p.Arg1072= Single submitter
- p.Arg1141= Single submitter
- p.Arg1257Gln Single submitter
- p.Arg1327= Single submitter
- p.Arg1342= Single submitter
- p.Arg1999Cys Single submitter Seckel syndrome
- p.Arg278= Single submitter
- p.Arg472= Single submitter
- p.Arg894= Single submitter
- p.Arg968= Single submitter
- p.Arg971= Single submitter
- p.Asn1639= Single submitter
- p.Asn1883Ser Single submitter
- p.Asn1893= Single submitter
- p.Asn249= Single submitter
- p.Asn321= Single submitter
- p.Asn338= Single submitter
- p.Asn355= Single submitter
- p.Asn510= Single submitter
- p.Asp1065= Single submitter
- p.Asp1312= Single submitter
- p.Asp1537= Single submitter
- p.Asp168= Single submitter
- p.Asp234= Single submitter
- p.Asp334= Single submitter
- p.Cys1214= Single submitter
- p.Cys598= Single submitter
- p.Gln1092= Single submitter
- p.Gln1096= Single submitter
- p.Gln1164= Single submitter
- p.Gln1222Arg Single submitter Seckel syndrome 7
- p.Gln1368= Single submitter
- p.Gln1462= Single submitter
- p.Gln1556= Single submitter
- p.Gln1588= Single submitter
- p.Gln1776= Single submitter
- p.Gln1998= Single submitter
- p.Gln2012= Single submitter
- p.Gln848= Single submitter
- p.Gln95= Single submitter
- p.Glu1275= Single submitter
- p.Glu1319Lys Single submitter
- p.Glu1682= Single submitter
- p.Glu1875= Single submitter
- p.Glu2107= Single submitter
- p.Glu717= Single submitter
- p.Gly1179Ser Single submitter
- p.Gly159= Single submitter
- p.Gly565= Single submitter
- p.His1074= Single submitter
- p.His146= Single submitter
- p.His1484= Single submitter
- p.His1738= Single submitter
- p.His201= Single submitter
- p.His358= Single submitter
- p.Ile444= Single submitter
- p.Ile469= Single submitter
- p.Leu1050= Single submitter
- p.Leu1070= Single submitter
- p.Leu1095= Single submitter
- p.Leu1231= Single submitter
- p.Leu1250= Single submitter
- p.Leu1251= Single submitter
- p.Leu1307= Single submitter
- p.Leu1431= Single submitter
- p.Leu1461= Single submitter
- p.Leu1589= Single submitter
- p.Leu1630= Single submitter
- p.Leu1658= Single submitter
- p.Leu1836= Single submitter
- p.Leu187= Single submitter
- p.Leu1880= Single submitter
- p.Leu1906= Single submitter
- p.Leu1946= Single submitter
- p.Leu2002= Single submitter
- p.Leu202= Single submitter
- p.Leu2085= Single submitter
- p.Leu2086= Single submitter
- p.Leu224= Single submitter
- p.Leu264= Single submitter
- p.Leu350= Single submitter
- p.Leu483= Single submitter
- p.Leu519= Single submitter
- p.Leu533= Single submitter
- p.Leu572= Single submitter
- p.Leu593= Single submitter
- p.Leu833= Single submitter
- p.Leu865= Single submitter
- p.Leu880= Single submitter
- p.Leu964= Single submitter
- p.Lys1020= Single submitter
- p.Lys1479= Single submitter
- p.Lys1487= Single submitter
- p.Lys1492= Single submitter
- p.Lys206= Single submitter
- p.Lys439= Single submitter
- p.Lys701= Single submitter
- p.Lys728= Single submitter
- p.Met1269Leu Single submitter
- p.Phe295= Single submitter
- p.Pro111= Single submitter
- p.Pro1894= Single submitter
- p.Pro1900= Single submitter
- p.Pro1921= Single submitter
- p.Pro1987= Single submitter
- p.Pro255= Single submitter
- p.Pro571= Single submitter
- p.Ser1105= Single submitter
- p.Ser1651= Single submitter
- p.Ser1783= Single submitter
- p.Ser1965Cys Single submitter
- p.Ser1972= Single submitter
- p.Ser2020= Single submitter
- p.Ser523= Single submitter
- p.Ser577= Single submitter
- p.Thr1119Ser Single submitter
- p.Thr124= Single submitter
- p.Thr1501= Single submitter
- p.Thr1742= Single submitter
- p.Thr1871= Single submitter
- p.Thr1968= Single submitter
- p.Thr340= Single submitter
- p.Tyr1252= Single submitter
- p.Tyr1273= Single submitter
- p.Tyr497= Single submitter
- p.Val1038= Single submitter
- p.Val117= Single submitter
- p.Val1230= Single submitter
- p.Val125= Single submitter
- p.Val1340= Single submitter
- p.Val2075= Single submitter
- p.Asn1831= No assertion criteria NIN-related disorder
- p.Ser1338= No assertion criteria NIN-related disorder
- p.Ser91Leu No assertion criteria NIN-related disorder
- p.Tyr1311= No assertion criteria NIN-related disorder
Uncertain significance 588
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1049Thr Multiple submitters ⚠
- p.Ala1212Val Multiple submitters ⚠
- p.Ala1350Gly Multiple submitters ⚠
- p.Ala1741Val Multiple submitters ⚠
- p.Ala1755Thr Multiple submitters ⚠
- p.Ala1755Val Multiple submitters ⚠
- p.Ala1813Gly Multiple submitters ⚠
- p.Ala1819Asp Multiple submitters ⚠
- p.Ala432Val Multiple submitters ⚠
- p.Ala870Val Multiple submitters ⚠
- p.Arg1003Gln Multiple submitters ⚠
- p.Arg1003Gly Multiple submitters ⚠
- p.Arg1090Thr Multiple submitters ⚠
- p.Arg1153Trp Multiple submitters ⚠
- p.Arg1216Gln Multiple submitters ⚠
- p.Arg1272His Multiple submitters ⚠
- p.Arg134Gln Multiple submitters ⚠
- p.Arg1613His Multiple submitters ⚠
- p.Arg1874Trp Multiple submitters ⚠
- p.Arg1878Cys Multiple submitters ⚠
- p.Arg1878His Multiple submitters ⚠
- p.Arg198Cys Multiple submitters ⚠
- p.Arg2039Gln Multiple submitters ⚠
- p.Arg2052Ser Multiple submitters
- p.Arg370Gln Multiple submitters ⚠
- p.Arg387Gln Multiple submitters ⚠
- p.Arg387Trp Multiple submitters ⚠
- p.Arg413Trp Multiple submitters ⚠
- p.Arg414Gln Multiple submitters ⚠
- p.Arg438Gln Multiple submitters ⚠
- p.Arg472His Multiple submitters ⚠
- p.Arg562His Multiple submitters ⚠
- p.Arg569Ser Multiple submitters ⚠
- p.Arg634Cys Multiple submitters ⚠
- p.Arg77Gly Multiple submitters ⚠
- p.Arg809Gly Multiple submitters ⚠
- p.Arg839Cys Multiple submitters ⚠
- p.Arg951Cys Multiple submitters ⚠
- p.Asn1130His Multiple submitters ⚠
- p.Asn355Asp Multiple submitters ⚠
- p.Asn418Ser Multiple submitters ⚠
- p.Asp1149Ala Multiple submitters ⚠
- p.Asp274Asn Multiple submitters ⚠
- p.Cys869Arg Multiple submitters ⚠
- p.Gln1033Lys Multiple submitters ⚠
- p.Gln1096Arg Multiple submitters ⚠
- p.Gln1134Pro Multiple submitters ⚠
- p.Gln1587Pro Multiple submitters ⚠
- p.Gln315Lys Multiple submitters ⚠
- p.Gln505Glu Multiple submitters ⚠
- p.Gln746His Multiple submitters ⚠
- p.Glu1007Lys Multiple submitters ⚠
- p.Glu1167Lys Multiple submitters ⚠
- p.Glu1178Lys Multiple submitters ⚠
- p.Glu1243Gln Multiple submitters ⚠
- p.Glu1333Lys Multiple submitters ⚠
- p.Glu1349Lys Multiple submitters ⚠
- p.Glu1457Gly Multiple submitters ⚠
- p.Glu1522Gln Multiple submitters ⚠
- p.Glu1911Asp Multiple submitters ⚠
- p.Glu1955Lys Multiple submitters ⚠
- p.Glu2021Lys Multiple submitters ⚠
- p.Glu466Asp Multiple submitters ⚠
- p.Glu590Lys Multiple submitters ⚠
- p.Glu87Lys Multiple submitters ⚠
- p.Glu953Val Multiple submitters ⚠
- p.Glu970Gly Multiple submitters ⚠
- p.Gly1330Ser Multiple submitters ⚠
- p.Gly141Ser Multiple submitters ⚠
- p.Gly1828Ala Multiple submitters ⚠
- p.His1142Tyr Multiple submitters ⚠
- p.His1738Asn Multiple submitters ⚠
- p.His1807Gln Multiple submitters ⚠
- p.His1825Tyr Multiple submitters ⚠
- p.His63Tyr Multiple submitters ⚠
- p.His904Gln Multiple submitters ⚠
- p.Ile1170Thr Multiple submitters ⚠
- p.Ile1241Leu Multiple submitters ⚠
- p.Ile1384Thr Multiple submitters ⚠
- p.Ile210Met Multiple submitters ⚠
- p.Ile74Phe Multiple submitters ⚠
- p.Leu1250Pro Multiple submitters ⚠
- p.Leu1461Val Multiple submitters ⚠
- p.Leu1607Pro Multiple submitters ⚠
- p.Leu1618Arg Multiple submitters ⚠
- p.Leu344Val Multiple submitters ⚠
- p.Leu572Ser Multiple submitters ⚠
- p.Leu629Phe Multiple submitters ⚠
- p.Leu890Val Multiple submitters ⚠
- p.Lys1487Glu Multiple submitters ⚠
- p.Lys1557Asn Multiple submitters ⚠
- p.Lys1570Asn Multiple submitters ⚠
- p.Lys251Asn Multiple submitters ⚠
- p.Lys397Gln Multiple submitters ⚠
- p.Lys439Glu Multiple submitters ⚠
- p.Lys573Asn Multiple submitters ⚠
- p.Met1617Ile Multiple submitters ⚠
- p.Met1782Ile Multiple submitters ⚠
- p.Met286Thr Multiple submitters ⚠
- p.Pro1246Ala Multiple submitters ⚠
- p.Pro1987Leu Multiple submitters ⚠
- p.Pro1987Ser Multiple submitters ⚠
- p.Pro1990Ser Multiple submitters ⚠
- p.Pro571Arg Multiple submitters ⚠
- p.Ser1009Asn Multiple submitters Seckel syndrome 7 ⚠
- p.Ser1181Cys Multiple submitters ⚠
- p.Ser1538Arg Multiple submitters ⚠
- p.Ser1749Phe Multiple submitters ⚠
- p.Ser985Cys Multiple submitters ⚠
- p.Thr1473Ile Multiple submitters ⚠
- p.Thr1669Asn Multiple submitters ⚠
- p.Thr197Ile Multiple submitters ⚠
- p.Thr2019Ala Multiple submitters ⚠
- p.Thr2069Ser Multiple submitters
- p.Thr2092Ile Multiple submitters Seckel syndrome 7
- p.Thr254Ile Multiple submitters ⚠
- p.Thr826Ala Multiple submitters ⚠
- p.Thr886Asn Multiple submitters ⚠
- p.Tyr1248His Multiple submitters
- p.Val1066Ile Multiple submitters ⚠
- p.Val1135Ile Multiple submitters ⚠
- p.Val1163Leu Multiple submitters ⚠
- p.Val117Met Multiple submitters Seckel syndrome 7 ⚠
- p.Val1768Phe Multiple submitters Seckel syndrome 7 ⚠
- p.Val511Glu Multiple submitters ⚠
- p.Val774Ala Multiple submitters ⚠
- c.1260-6T>C Single submitter
- c.184-3T>A Single submitter
- c.1897-14C>G Single submitter
- c.1897-2A>G Single submitter
- c.2400-7_2400-2del Single submitter
- c.265+6G>A Single submitter
- c.266-3C>T Single submitter
- c.436-3T>C Single submitter
- c.4735-16_4735-12del Single submitter
- c.5301+5A>G Single submitter
- c.5301+6T>C Single submitter
- c.5775+5G>T Single submitter
- c.5877+3A>G Single submitter
- c.6078+3A>G Single submitter
- c.814-3C>T Single submitter
- p.1323VL[1] Single submitter
- p.Ala1049Pro Single submitter ⚠
- p.Ala1077Thr Single submitter ⚠
- p.Ala1085Val Single submitter ⚠
- p.Ala1566Gly Single submitter ⚠
- p.Ala1660Val Single submitter ⚠
- p.Ala1819Ser Single submitter ⚠
- p.Ala1868Asp Single submitter ⚠
- p.Ala1967Val Single submitter ⚠
- p.Ala2071Ser Single submitter
- p.Ala2099Thr Single submitter
- p.Ala285Thr Single submitter ⚠
- p.Ala360Val Single submitter ⚠
- p.Ala361Thr Single submitter ⚠
- p.Ala361Val Single submitter ⚠
- p.Ala363Val Single submitter ⚠
- p.Ala409Thr Single submitter ⚠
- p.Ala409Val Single submitter ⚠
- p.Ala462Thr Single submitter ⚠
- p.Ala582Ser Single submitter ⚠
- p.Ala816Pro Single submitter ⚠
- p.Ala832Gly Single submitter ⚠
- p.Ala832Thr Single submitter ⚠
- p.Ala832Val Single submitter ⚠
- p.Ala958Thr Single submitter ⚠
- p.Ala996Gly Single submitter ⚠
- p.Arg1005Gly Single submitter ⚠
- p.Arg1005Thr Single submitter ⚠
- p.Arg100Lys Single submitter ⚠
- p.Arg100Ser Single submitter ⚠
- p.Arg104Cys Single submitter ⚠
- p.Arg104His Single submitter ⚠
- p.Arg1090Gly Single submitter ⚠
- p.Arg1131Gln Single submitter ⚠
- p.Arg1131Ter Single submitter
- p.Arg1141Gln Single submitter ⚠
- p.Arg1141Trp Single submitter ⚠
- p.Arg1190Ser Single submitter ⚠
- p.Arg1272Cys Single submitter ⚠
- p.Arg1342Gln Single submitter ⚠
- p.Arg134Trp Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg1633Trp Single submitter ⚠
- p.Arg1646Cys Single submitter ⚠
- p.Arg1784Trp Single submitter ⚠
- p.Arg1874Gln Single submitter ⚠
- p.Arg198Gly Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg204Trp Single submitter ⚠
- p.Arg2052Thr Single submitter ⚠
- p.Arg2095Ter Single submitter
- p.Arg279His Single submitter ⚠
- p.Arg293Pro Single submitter
- p.Arg293Trp Single submitter ⚠
- p.Arg309Thr Single submitter ⚠
- p.Arg413Gln Single submitter ⚠
- p.Arg414Trp Single submitter ⚠
- p.Arg429Gln Single submitter ⚠
- p.Arg452Cys Single submitter ⚠
- p.Arg452His Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg472Cys Single submitter ⚠
- p.Arg472Leu Single submitter ⚠
- p.Arg482Cys Single submitter ⚠
- p.Arg482His Single submitter ⚠
- p.Arg537Ser Single submitter ⚠
- p.Arg562Cys Single submitter ⚠
- p.Arg620Gly Single submitter ⚠
- p.Arg740Trp Single submitter ⚠
- p.Arg841Cys Single submitter ⚠
- p.Arg852Cys Single submitter ⚠
- p.Arg852His Single submitter ⚠
- p.Arg852Ser Single submitter ⚠
- p.Arg951His Single submitter ⚠
- p.Arg951Ser Single submitter ⚠
- p.Arg968Trp Single submitter ⚠
- p.Asn1318fs Single submitter
- p.Asn1593Asp Single submitter ⚠
- p.Asn170Ser Single submitter ⚠
- p.Asn170Thr Single submitter ⚠
- p.Asn1777Ser Single submitter ⚠
- p.Asn1930Lys Single submitter ⚠
- p.Asn2017fs Single submitter
- p.Asn2103Asp Single submitter
- p.Asn2119His Single submitter
- p.Asn355Lys Single submitter ⚠
- p.Asn599Ser Single submitter ⚠
- p.Asp1002His Single submitter ⚠
- p.Asp1109Ala Single submitter ⚠
- p.Asp1109Gly Single submitter ⚠
- p.Asp1274Asn Single submitter ⚠
- p.Asp130His Single submitter ⚠
- p.Asp1312Asn Single submitter ⚠
- p.Asp1480fs Single submitter
- p.Asp1537Glu Single submitter ⚠
- p.Asp1681Glu Single submitter ⚠
- p.Asp181Val Single submitter ⚠
- p.Asp1913Val Single submitter ⚠
- p.Asp199Glu Single submitter ⚠
- p.Asp299Gly Single submitter ⚠
- p.Asp334Glu Single submitter ⚠
- p.Asp334His Single submitter ⚠
- p.Asp471Glu Single submitter ⚠
- p.Asp518Gly Single submitter ⚠
- p.Asp552His Single submitter ⚠
- p.Asp552Val Single submitter ⚠
- p.Cys1214Tyr Single submitter ⚠
- p.Cys191Tyr Single submitter ⚠
- p.Cys1986Tyr Single submitter ⚠
- p.Cys623Arg Single submitter ⚠
- p.Cys695Ser Single submitter ⚠
- p.Cys829Tyr Single submitter ⚠
- p.Cys956Tyr Single submitter ⚠
- p.Gln1122Glu Single submitter ⚠
- p.Gln1291Ter Single submitter
- p.Gln1365Arg Single submitter ⚠
- p.Gln1417Glu Single submitter ⚠
- p.Gln1426His Single submitter ⚠
- p.Gln1446Arg Single submitter ⚠
- p.Gln1551Arg Single submitter ⚠
- p.Gln1602Glu Single submitter ⚠
- p.Gln1612Arg Single submitter ⚠
- p.Gln1776His Single submitter ⚠
- p.Gln1794His Single submitter
- p.Gln188Glu Single submitter ⚠
- p.Gln1914Glu Single submitter ⚠
- p.Gln1950Pro Single submitter ⚠
- p.Gln1982Arg Single submitter ⚠
- p.Gln1982Leu Single submitter ⚠
- p.Gln1996His Single submitter ⚠
- p.Gln2009Pro Single submitter ⚠
- p.Gln2012Leu Single submitter ⚠
- p.Gln2060Arg Single submitter ⚠
- p.Gln213Arg Single submitter ⚠
- p.Gln378His Single submitter ⚠
- p.Gln457Arg Single submitter ⚠
- p.Gln529Ter Single submitter
- p.Gln535Glu Single submitter ⚠
- p.Gln651Lys Single submitter ⚠
- p.Gln66= Single submitter
- p.Gln703del Single submitter
- p.Gln703Lys Single submitter ⚠
- p.Gln819His Single submitter ⚠
- p.Gln842His Single submitter ⚠
- p.Gln848Pro Single submitter ⚠
- p.Gln857Ter Single submitter
- p.Gln913Leu Single submitter ⚠
- p.Gln914Leu Single submitter ⚠
- p.Gln914Lys Single submitter ⚠
- p.Gln930Lys Single submitter ⚠
- p.Gln981Arg Single submitter ⚠
- p.Glu1043del Single submitter
- p.Glu1043Val Single submitter ⚠
- p.Glu1099Lys Single submitter ⚠
- p.Glu1136del Single submitter Seckel syndrome 7
- p.Glu1136Gly Single submitter ⚠
- p.Glu1293Lys Single submitter ⚠
- p.Glu1317Gln Single submitter ⚠
- p.Glu1358Lys Single submitter ⚠