CGN — 209 ClinVar variants

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

3 Benign · 2 Benign/Likely benign · 11 Likely benign · 193 Uncertain significance

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

All CGN variants

Benign 3

p.Arg547Lys Multiple submitters
p.Arg973Gln Multiple submitters
p.Ile60= Multiple submitters

Benign/Likely benign 2

p.Ala357= Multiple submitters
p.Glu771Lys Multiple submitters

Likely benign 11

p.Arg11Trp Multiple submitters
p.Arg227Trp Multiple submitters
p.Arg366Gln Single submitter
p.Arg373Gln Single submitter
p.Arg636Gln Single submitter
p.Arg796Gln Single submitter
p.Asn256Ser Single submitter
p.Thr1032Ser Single submitter
p.Thr288Ala Single submitter
p.Tyr127His Single submitter
p.Val542Ala Single submitter

Uncertain significance 193

p.Ala1035Thr Single submitter
p.Ala142Val Single submitter
p.Ala160Thr Single submitter
p.Ala160Val Single submitter
p.Ala316Thr Single submitter
p.Ala503Thr Single submitter
p.Ala61Ser Single submitter
p.Ala667Val Single submitter
p.Ala720Thr Single submitter
p.Ala810Ser Single submitter
p.Ala810Thr Single submitter
p.Ala822Thr Single submitter
p.Ala921Thr Single submitter
p.Ala924Ser Single submitter
p.Arg1013Gln Single submitter
p.Arg1033Gln Single submitter
p.Arg1060Gln Single submitter
p.Arg1148Trp Single submitter
p.Arg1158Leu Single submitter
p.Arg1162Cys Single submitter
p.Arg194Gln Single submitter
p.Arg196Trp Single submitter
p.Arg199Cys Single submitter
p.Arg199His Single submitter
p.Arg202Gln Single submitter
p.Arg202Trp Single submitter
p.Arg209Cys Single submitter
p.Arg209His Single submitter
p.Arg218His Single submitter
p.Arg221Gln Single submitter
p.Arg221Trp Single submitter
p.Arg265His Single submitter
p.Arg281Gln Single submitter
p.Arg282Lys Single submitter
p.Arg300Gln Single submitter
p.Arg335Ser Single submitter
p.Arg36Cys Single submitter
p.Arg382Gln Single submitter
p.Arg382Trp Single submitter
p.Arg394Trp Single submitter
p.Arg405Gln Single submitter
p.Arg41Cys Single submitter
p.Arg473Gln Single submitter
p.Arg493Trp Single submitter
p.Arg495Gln Single submitter
p.Arg530Cys Single submitter
p.Arg56Cys Single submitter
p.Arg625His Single submitter
p.Arg658Gln Single submitter
p.Arg658Gly Single submitter
p.Arg670Lys Single submitter
p.Arg675Gln Single submitter
p.Arg677Trp Single submitter
p.Arg718Gln Single submitter
p.Arg726Trp Single submitter
p.Arg738Cys Single submitter
p.Arg750Pro Single submitter
p.Arg762Gln Single submitter
p.Arg764Gln Single submitter
p.Arg801Cys Single submitter
p.Arg801His Single submitter
p.Arg801Leu Single submitter
p.Arg807Trp Single submitter
p.Arg811Leu Single submitter
p.Arg821Gln Single submitter
p.Arg821Trp Single submitter
p.Arg830Gln Single submitter
p.Arg835Gln Single submitter
p.Arg845Cys Single submitter
p.Arg845His Single submitter
p.Arg849Lys Single submitter
p.Arg853Pro Single submitter
p.Arg885Gln Single submitter
p.Arg919Pro Single submitter
p.Arg919Trp Single submitter
p.Arg933Trp Single submitter
p.Arg942Gln Single submitter
p.Arg955Cys Single submitter
p.Arg962Gln Single submitter
p.Arg962Trp Single submitter
p.Arg973Trp Single submitter
p.Arg991Trp Single submitter
p.Arg994Cys Single submitter
p.Arg994Ser Single submitter
p.Arg996Trp Single submitter
p.Asn1197Ile Single submitter
p.Asn1197Ser Single submitter
p.Asn233Ser Single submitter
p.Asn683Asp Single submitter
p.Asp1000Glu Single submitter
p.Asp1177Gly Single submitter
p.Asp1185Val Single submitter
p.Asp674Tyr Single submitter
p.Asp878Gly Single submitter
p.Asp990His Single submitter
p.Cys1018Ser Single submitter
p.Gln1102Ter Single submitter Nonsyndromic Deafness
p.Gln188Pro Single submitter
p.Gln389His Single submitter
p.Gln489His Single submitter
p.Gln548Lys Single submitter
p.Gln558His Single submitter
p.Gln695Glu Single submitter
p.Gln829Glu Single submitter
p.Glu1090Val Single submitter
p.Glu1136Ala Single submitter
p.Glu1166Lys Single submitter
p.Glu1172Lys Single submitter
p.Glu488Gly Single submitter
p.Glu494Gln Single submitter
p.Glu494Gly Single submitter
p.Glu566Lys Single submitter
p.Glu639Lys Single submitter
p.Glu652Gln Single submitter
p.Glu661Asp Single submitter
p.Glu710Lys Single submitter
p.Glu757Gln Single submitter
p.Glu778Gln Single submitter
p.Glu900Lys Single submitter
p.Glu986Gln Single submitter
p.Gly190Arg Single submitter
p.Gly246Asp Single submitter
p.Gly39Glu Single submitter
p.Gly415Trp Single submitter
p.Gly502Arg Single submitter
p.Gly62Glu Single submitter
p.His1095Gln Single submitter
p.His244Asp Single submitter
p.His439Asp Single submitter
p.Ile82Met Single submitter
p.Leu339Phe Single submitter
p.Leu35Pro Single submitter
p.Leu364Phe Single submitter
p.Leu475Ile Single submitter
p.Leu492Gln Single submitter
p.Leu590Pro Single submitter
p.Leu644Arg Single submitter
p.Leu714Val Single submitter
p.Leu809Pro Single submitter
p.Leu840Val Single submitter
p.Leu911Pro Single submitter
p.Lys1130Asn Single submitter
p.Lys1170Arg Single submitter
p.Lys293Thr Single submitter
p.Lys414Gln Single submitter
p.Lys422Arg Single submitter
p.Lys586Arg Single submitter
p.Lys631Arg Single submitter
p.Lys702Glu Single submitter
p.Lys953Thr Single submitter
p.Met203Ile Single submitter
p.Met289Val Single submitter
p.Met314Ile Single submitter
p.Met594Thr Single submitter
p.Phe224Val Single submitter
p.Phe277Ser Single submitter
p.Pro101Ser Single submitter
p.Pro149His Single submitter
p.Pro161Leu Single submitter
p.Pro206Thr Single submitter
p.Pro26Ala Single submitter
p.Pro42Arg Single submitter
p.Ser106Phe Single submitter
p.Ser1104Asn Single submitter
p.Ser1161Phe Single submitter
p.Ser150Gly Single submitter
p.Ser177Leu Single submitter
p.Ser248Leu Single submitter
p.Ser254Asn Single submitter
p.Ser573Thr Single submitter
p.Ser620Thr Single submitter
p.Ser784Tyr Single submitter
p.Ser790Ile Single submitter
p.Ser909Ile Single submitter
p.Ser956Cys Single submitter
p.Ser95Asn Single submitter
p.Thr1004Ile Single submitter
p.Thr1069Ala Single submitter
p.Thr1200Ile Single submitter
p.Thr169Pro Single submitter
p.Thr24Ala Single submitter
p.Thr24Ile Single submitter
p.Thr34Ala Single submitter
p.Thr724Met Single submitter
p.Thr728Ile Single submitter
p.Tyr127Ser Single submitter
p.Val1141Ile Single submitter
p.Val390Ala Single submitter
p.Val508Leu Single submitter
p.Val609Phe Single submitter
p.Val671Leu Single submitter
p.Val753Leu Single submitter
p.Val985Met Single submitter