LRRC7 — 193 ClinVar variants

All ClinVar germline LRRC7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

8 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 5 Benign · 24 Likely benign · 153 Uncertain significance

Full LRRC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All LRRC7 variants

Pathogenic 8

c.787-1G>T Single submitter
p.Gln1091fs Single submitter LRRC7-associated obesity and neurodevelopmental disorder
p.Gln748Ter Single submitter LRRC7-associated obesity and neurodevelopmental disorder
p.Gly1049Ter Single submitter
p.Pro1184fs Single submitter
p.Ser1498Ter Single submitter Paediatric disorders
p.Asn94Ser No assertion criteria intellectual developmental disorder, autosomal dominant 77
p.Leu296Pro No assertion criteria intellectual developmental disorder, autosomal dominant 77

Likely pathogenic 1

p.Leu122Arg Single submitter LRRC7-associated disorder

Conflicting classifications of pathogenicity 2

p.Pro1184Ser Single submitter
p.Val1097Ala Single submitter

Benign 5

p.Asn331Ser Single submitter
p.Asp185= Single submitter
p.His951= Single submitter
p.Leu119= Single submitter
p.Pro12= Single submitter

Likely benign 24

p.Arg417= Multiple submitters
c.4110+4_4110+7del Single submitter
p.Arg391= Single submitter
p.Arg795Gln Single submitter
p.Arg953Cys Single submitter
p.Glu921= Single submitter
p.Gly1182Ser Single submitter
p.Gly235Ser Single submitter
p.Gly809= Single submitter
p.Ile1104= Single submitter
p.Phe1072= Single submitter
p.Pro1019= Single submitter
p.Pro1449= Single submitter
p.Pro793Ser Single submitter
p.Pro797= Single submitter
p.Pro904= Single submitter
p.Pro954= Single submitter
p.Ser1226= Single submitter
p.Ser729= Single submitter
p.Ser919= Single submitter
p.Thr1417= Single submitter
p.Thr823Ala Single submitter
p.Tyr1248= Single submitter
p.Val1097Met Single submitter

Uncertain significance 153

p.Ala1105Thr Multiple submitters
p.Ser354Ala Multiple submitters
c.1005-7T>A Single submitter
c.1135-2A>G Single submitter
c.2288+1G>A Single submitter
c.932-12_932-10del Single submitter intellectual developmental disorder, autosomal dominant 77
p.Ala1142Thr Single submitter
p.Ala1146Val Single submitter
p.Ala1148Gly Single submitter
p.Ala1154Val Single submitter
p.Ala1164Thr Single submitter
p.Ala1411Thr Single submitter
p.Ala535Ser Single submitter
p.Ala586Pro Single submitter
p.Ala783Ser Single submitter
p.Ala895Thr Single submitter
p.Arg110Gln Single submitter
p.Arg1183Gly Single submitter
p.Arg1427His Single submitter
p.Arg1429Trp Single submitter
p.Arg1461Gln Single submitter
p.Arg1461Trp Single submitter
p.Arg1467Trp Single submitter
p.Arg363Trp Single submitter
p.Arg494Cys Single submitter
p.Arg597Ile Single submitter
p.Arg633Cys Single submitter
p.Arg633Pro Single submitter
p.Arg741Gln Single submitter
p.Arg792Cys Single submitter
p.Arg792fs Single submitter
p.Arg845Cys Single submitter
p.Arg953Leu Single submitter
p.Asn1274Asp Single submitter
p.Asn1277Asp Single submitter
p.Asn1285Ser Single submitter
p.Asn1381Ser Single submitter
p.Asn148Ser Single submitter
p.Asn184Ser Single submitter
p.Asn393fs Single submitter
p.Asn616Lys Single submitter
p.Asn739Asp Single submitter
p.Asn828Asp Single submitter
p.Asp1020Gly Single submitter
p.Asp1380Asn Single submitter
p.Asp284His Single submitter
p.Asp540Asn Single submitter
p.Asp613Gly Single submitter
p.Asp808Gly Single submitter
p.Cys519Gly Single submitter
p.Gln1122Lys Single submitter
p.Gln1364Arg Single submitter
p.Gln527fs Single submitter
p.Gln863Lys Single submitter
p.Glu1017Lys Single submitter
p.Glu1026Lys Single submitter
p.Glu1133Asp Single submitter
p.Glu635Gly Single submitter
p.Gly1009Glu Single submitter
p.Gly1049Glu Single submitter
p.Gly1189Arg Single submitter
p.Gly1249Ser Single submitter
p.Gly1390Ser Single submitter
p.Gly1436Arg Single submitter
p.Gly1507Arg Single submitter
p.Gly57Val Single submitter
p.Gly678Ala Single submitter
p.Gly698Glu Single submitter
p.Gly736= Single submitter LRRC7-related intellectual disability, autism, aggression and abnormal eating behaviors
p.His1016Gln Single submitter
p.His219Gln Single submitter
p.His452Gln Single submitter
p.His69Tyr Single submitter
p.His915Arg Single submitter
p.Ile1438Leu Single submitter
p.Ile1499Val Single submitter
p.Ile149Val Single submitter
p.Ile158Thr Single submitter
p.Ile264Val Single submitter
p.Ile280Thr Single submitter
p.Ile402Thr Single submitter
p.Ile445Val Single submitter
p.Ile569Val Single submitter
p.Ile96Met Single submitter
p.Ile993Val Single submitter
p.Leu135His Single submitter intellectual developmental disorder, autosomal dominant 77
p.Leu1567Gln Single submitter
p.Leu296Phe Single submitter
p.Leu312_Leu313insTer Single submitter
p.Leu339= Single submitter
p.Leu973fs Single submitter
p.Lys1221Asn Single submitter
p.Lys1409Arg Single submitter
p.Lys1410Gln Single submitter
p.Met1040Val Single submitter
p.Met1061Val Single submitter
p.Met1120Arg Single submitter
p.Met1163Thr Single submitter
p.Met1478Val Single submitter
p.Met495Val Single submitter
p.Phe1090Leu Single submitter
p.Phe172Ser Single submitter
p.Pro1002Ala Single submitter
p.Pro1118Leu Single submitter
p.Pro1119Leu Single submitter
p.Pro1215Leu Single submitter
p.Pro1255Leu Single submitter
p.Pro1433Leu Single submitter
p.Pro522Leu Single submitter
p.Pro592Leu Single submitter
p.Pro659Leu Single submitter
p.Pro785Ser Single submitter
p.Pro786Leu Single submitter
p.Pro831Leu Single submitter
p.Pro887_Ser888insTer Single submitter
p.Pro908Ser Single submitter
p.Pro928Ser Single submitter
p.Pro954Thr Single submitter
p.Ser1015Arg Single submitter
p.Ser1159Asn Single submitter
p.Ser300Phe Single submitter
p.Ser392Pro Single submitter intellectual developmental disorder, autosomal dominant 77
p.Ser667Cys Single submitter
p.Ser738Phe Single submitter
p.Ser810Leu Single submitter
p.Ser835Trp Single submitter
p.Ser842Leu Single submitter
p.Ser864Pro Single submitter
p.Ser907Thr Single submitter intellectual developmental disorder, autosomal dominant 77
p.Ser971fs Single submitter
p.Ser985Thr Single submitter
p.Thr1245Arg Single submitter
p.Thr1331Ala Single submitter
p.Thr1357Ile Single submitter
p.Thr1417Met Single submitter
p.Thr355Ala Single submitter intellectual developmental disorder, autosomal dominant 77
p.Thr903Ile Single submitter intellectual developmental disorder, autosomal dominant 77
p.Thr920Ser Single submitter
p.Trp1308Gly Single submitter
p.Trp435Arg Single submitter
p.Tyr1006His Single submitter
p.Tyr1048Cys Single submitter
p.Tyr1048His Single submitter
p.Tyr1210Ter Single submitter intellectual disability
p.Tyr1273Cys Single submitter
p.Tyr1339Cys Single submitter
p.Tyr1395Phe Single submitter
p.Val1169Ala Single submitter
p.Val1229Ala Single submitter
p.Val1568Ile Single submitter
p.Val367Ala Single submitter
p.Val584Leu Single submitter
p.Glu59Gln No assertion criteria