DLGAP5 — 129 ClinVar variants

All ClinVar germline DLGAP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →

1 Likely pathogenic · 1 Benign · 13 Likely benign · 114 Uncertain significance

Full DLGAP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 112

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 102

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 10

The independent predictors disagree with each other — read with care.

All DLGAP5 variants

Likely pathogenic 1

c.2064-1G>A Single submitter inherited oocyte maturation defect

Benign 1

c.1049+7A>C Multiple submitters

Likely benign 13

p.Ala424Ser Single submitter
p.Arg422Gln Single submitter
p.Asn272Asp Single submitter
p.Asn546Ser Single submitter
p.Asn644Ser Single submitter
p.Cys811= Single submitter
p.Gln373His Single submitter
p.Ile758Val Single submitter
p.Ile85Val Single submitter
p.Ser415Pro Single submitter
p.Ser777Asn Single submitter
p.Thr75Ala Single submitter
p.Val513Ile Single submitter

Uncertain significance 114

p.Ala174Thr Single submitter ⚠
p.Ala308Val Single submitter ⚠
p.Ala333Thr Single submitter ⚠
p.Ala361Thr Single submitter ⚠
p.Ala571Val Single submitter ⚠
p.Ala578Val Single submitter ⚠
p.Ala582Ser Single submitter ⚠
p.Ala582Val Single submitter ⚠
p.Arg122His Single submitter ⚠
p.Arg151Trp Single submitter ⚠
p.Arg207Gln Single submitter ⚠
p.Arg218Lys Single submitter ⚠
p.Arg41Gln Single submitter ⚠
p.Arg453Lys Single submitter ⚠
p.Arg475Gly Single submitter ⚠
p.Arg481Trp Single submitter ⚠
p.Arg575His Single submitter ⚠
p.Arg584Ser Single submitter ⚠
p.Arg586Ser Single submitter ⚠
p.Arg651Gly Single submitter ⚠
p.Arg821Lys Single submitter ⚠
p.Arg9Gln Single submitter ⚠
p.Asn236Lys Single submitter ⚠
p.Asn334Ser Single submitter ⚠
p.Asn526Tyr Single submitter ⚠
p.Asn710Ser Single submitter ⚠
p.Asn755Asp Single submitter ⚠
p.Asn794Ser Single submitter ⚠
p.Asp257Asn Single submitter ⚠
p.Asp465Glu Single submitter ⚠
p.Asp49Val Single submitter
p.Asp519Asn Single submitter ⚠
p.Asp64Asn Single submitter ⚠
p.Cys592Arg Single submitter ⚠
p.Gln196His Single submitter ⚠
p.Gln215Arg Single submitter ⚠
p.Gln649Arg Single submitter ⚠
p.Gln788Leu Single submitter ⚠
p.Gln817Arg Single submitter ⚠
p.Gln842Arg Single submitter ⚠
p.Glu111Gly Single submitter ⚠
p.Glu352Val Single submitter ⚠
p.Glu417Lys Single submitter ⚠
p.Glu440Val Single submitter ⚠
p.Glu450Gln Single submitter ⚠
p.Glu674Asp Single submitter ⚠
p.Gly116Arg Single submitter ⚠
p.Gly46Ala Single submitter ⚠
p.Gly487Arg Single submitter ⚠
p.Gly698Glu Single submitter ⚠
p.His393Asp Single submitter ⚠
p.His822Pro Single submitter ⚠
p.Ile14Met Single submitter ⚠
p.Ile23Ser Single submitter ⚠
p.Ile570Thr Single submitter ⚠
p.Ile579Val Single submitter ⚠
p.Ile656Phe Single submitter ⚠
p.Ile656Val Single submitter ⚠
p.Ile745Met Single submitter ⚠
p.Leu132Ser Single submitter ⚠
p.Leu386Val Single submitter ⚠
p.Leu395Val Single submitter ⚠
p.Leu408Phe Single submitter ⚠
p.Leu437Phe Single submitter
p.Leu477Phe Single submitter ⚠
p.Leu637Phe Single submitter ⚠
p.Leu719Ser Single submitter ⚠
p.Leu804Phe Single submitter ⚠
p.Leu86Val Single submitter ⚠
p.Lys107Thr Single submitter ⚠
p.Lys227Met Single submitter ⚠
p.Lys602Arg Single submitter ⚠
p.Met205Leu Single submitter ⚠
p.Met313Ile Single submitter ⚠
p.Met328Leu Single submitter ⚠
p.Met541Val Single submitter ⚠
p.Met724Val Single submitter ⚠
p.Phe681Ile Single submitter ⚠
p.Pro177Ser Single submitter ⚠
p.Pro217Thr Single submitter ⚠
p.Pro294Thr Single submitter ⚠
p.Pro339Leu Single submitter ⚠
p.Pro380Leu Single submitter ⚠
p.Pro380Ser Single submitter ⚠
p.Pro385Leu Single submitter ⚠
p.Pro633Arg Single submitter ⚠
p.Pro663Leu Single submitter ⚠
p.Pro685Thr Single submitter ⚠
p.Pro768Ser Single submitter ⚠
p.Pro79Ser Single submitter ⚠
p.Ser4Ala Single submitter ⚠
p.Ser642Pro Single submitter ⚠
p.Ser648Cys Single submitter ⚠
p.Ser767Asn Single submitter ⚠
p.Ser796Asn Single submitter ⚠
p.Thr275Ser Single submitter ⚠
p.Thr326Ile Single submitter ⚠
p.Thr342Ser Single submitter ⚠
p.Thr344Ala Single submitter ⚠
p.Thr401Ala Single submitter ⚠
p.Thr504Ala Single submitter ⚠
p.Thr661Ile Single submitter ⚠
p.Thr671Met Single submitter ⚠
p.Thr784Ala Single submitter ⚠
p.Thr799Ala Single submitter ⚠
p.Thr837Ser Single submitter ⚠
p.Val220Ile Single submitter ⚠
p.Val264Ile Single submitter ⚠
p.Val286Ile Single submitter ⚠
p.Val430Met Single submitter ⚠
p.Val628Phe Single submitter ⚠
p.Val708Ile Single submitter ⚠
p.Val733Ala Single submitter ⚠
p.Val749Met Single submitter ⚠