DIAPH2 — 99 ClinVar variants
All ClinVar germline DIAPH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
5 Benign · 1 Benign/Likely benign · 17 Likely benign · 76 Uncertain significance
Full DIAPH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DIAPH2 p.Ala672Thr Uncertain significance Single submitter
- DIAPH2 p.Ala870Thr Uncertain significance Single submitter
- DIAPH2 p.Arg1036Leu Uncertain significance Single submitter
- DIAPH2 p.Arg1089Gly Uncertain significance Single submitter
- DIAPH2 p.Arg1091Cys Uncertain significance Single submitter
- DIAPH2 p.Arg1093His Uncertain significance Single submitter
- DIAPH2 p.Arg262Lys Uncertain significance Single submitter
- DIAPH2 p.Arg355Cys Uncertain significance Single submitter
- DIAPH2 p.Arg793His Uncertain significance Single submitter
- DIAPH2 p.Arg865Lys Uncertain significance Single submitter
-
DIAPH2 p.Asn129Asp
Uncertain significance
Single submitter
premature ovarian failure 2A
- DIAPH2 p.Asn30His Uncertain significance Single submitter
- DIAPH2 p.Asn967Ser Uncertain significance Single submitter
- DIAPH2 p.Glu937Gln Uncertain significance Single submitter
- DIAPH2 p.His1094Arg Uncertain significance Single submitter
- DIAPH2 p.His925Arg Uncertain significance Single submitter
- DIAPH2 p.Ile347Thr Uncertain significance Single submitter
- DIAPH2 p.Ile748Val Uncertain significance Single submitter
- DIAPH2 p.Ile760Thr Uncertain significance Single submitter
- DIAPH2 p.Ile810Met Uncertain significance Single submitter
- DIAPH2 p.Leu542Pro Uncertain significance Single submitter
- DIAPH2 p.Leu598Ile Uncertain significance Single submitter
- DIAPH2 p.Leu73Arg Uncertain significance Single submitter
- DIAPH2 p.Lys228Asn Uncertain significance Single submitter
- DIAPH2 p.Lys49Arg Uncertain significance Single submitter
- DIAPH2 p.Phe933Ile Uncertain significance Single submitter
- DIAPH2 p.Pro1086Ser Uncertain significance Single submitter
- DIAPH2 p.Pro92Ser Uncertain significance Single submitter
- DIAPH2 p.Thr360Ala Uncertain significance Single submitter
- DIAPH2 p.Thr50Ile Uncertain significance Single submitter
- DIAPH2 p.Tyr445Cys Uncertain significance Single submitter
- DIAPH2 p.Val1085Ala Uncertain significance Single submitter
- DIAPH2 p.Val285Gly Uncertain significance Single submitter
- DIAPH2 p.Val560Ile Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- DIAPH2 p.Ala125Val Uncertain significance Single submitter
- DIAPH2 p.Ala488Val Uncertain significance Single submitter
- DIAPH2 p.Ala6Thr Uncertain significance Single submitter
- DIAPH2 p.Ala870Glu Uncertain significance Single submitter
- DIAPH2 p.Arg1075Gln Uncertain significance Single submitter
- DIAPH2 p.Arg304Gly Uncertain significance Single submitter
- DIAPH2 p.Arg928Ser Uncertain significance Single submitter
- DIAPH2 p.Arg97Pro Uncertain significance Single submitter
- DIAPH2 p.Asn642Asp Uncertain significance Single submitter
- DIAPH2 p.Asn677Tyr Uncertain significance Single submitter
- DIAPH2 p.Asp1045Gly Uncertain significance Single submitter
- DIAPH2 p.Asp226Val Uncertain significance Single submitter
- DIAPH2 p.Asp57Glu Uncertain significance Single submitter
-
DIAPH2 p.Gln248Lys
Uncertain significance
Single submitter
premature ovarian failure 2A
- DIAPH2 p.Gln512His Uncertain significance Single submitter
- DIAPH2 p.Glu422Gly Uncertain significance Single submitter
- DIAPH2 p.Glu491Gly Uncertain significance Single submitter
- DIAPH2 p.Glu494Asp Uncertain significance Single submitter
- DIAPH2 p.Glu494Gln Uncertain significance Single submitter
- DIAPH2 p.Gly573Arg Uncertain significance Single submitter
- DIAPH2 p.Gly589Arg Uncertain significance Single submitter
- DIAPH2 p.Ile298Val Uncertain significance Single submitter
- DIAPH2 p.Ile428Val Uncertain significance Single submitter
- DIAPH2 p.Ile441Asn Uncertain significance Single submitter
- DIAPH2 p.Ile988Thr Uncertain significance Single submitter
- DIAPH2 p.Leu216Ile Uncertain significance Single submitter
- DIAPH2 p.Leu557Phe Uncertain significance Single submitter
- DIAPH2 p.Leu736Val Uncertain significance Single submitter
- DIAPH2 p.Lys227Arg Uncertain significance Single submitter
- DIAPH2 p.Lys633Arg Uncertain significance Single submitter
- DIAPH2 p.Lys712Arg Uncertain significance Single submitter
- DIAPH2 p.Pro615Leu Uncertain significance Single submitter
- DIAPH2 p.Pro615Ser Uncertain significance Single submitter
- DIAPH2 p.Pro634Thr Uncertain significance Single submitter
- DIAPH2 p.Ser172Leu Likely benign Single submitter
- DIAPH2 p.Ser543Leu Uncertain significance Single submitter
- DIAPH2 p.Thr133Ile Uncertain significance Single submitter
- DIAPH2 p.Thr948Ile Uncertain significance Single submitter
- DIAPH2 p.Tyr771Cys Uncertain significance Single submitter
-
DIAPH2 p.Val901Ile
Uncertain significance
Single submitter
premature ovarian failure 2A
-
DIAPH2 p.Glu529Ala
Uncertain significance
No assertion criteria
premature ovarian failure 2A
- DIAPH2 p.Ile797Phe Uncertain significance No assertion criteria
All DIAPH2 variants
Benign 5
- p.Phe504= Multiple submitters
- c.1090-9A>G Single submitter
- p.His754= Single submitter
- c.2590-5C>T No assertion criteria DIAPH2-related disorder
- c.733-5_733-3del No assertion criteria DIAPH2-related disorder
Benign/Likely benign 1
- p.Ala83Thr Multiple submitters premature ovarian failure 2A
Likely benign 17
- c.2589+8G>A Single submitter
- c.587+8G>A Single submitter
- p.Ala83= Single submitter
- p.Arg187= Single submitter
- p.Asn120= Single submitter
- p.Gln444= Single submitter
- p.Ile475= Single submitter
- p.Ile988Val Single submitter
- p.Leu598= Single submitter
- p.Lys1028= Single submitter
- p.Pro562Leu Single submitter
- p.Ser172Leu Single submitter ⚠
- p.Ser918Ala Single submitter
- p.Val612Ile Single submitter
- p.Val636= Single submitter
- c.3009+4A>C No assertion criteria DIAPH2-related disorder
- p.Thr133= No assertion criteria DIAPH2-related disorder
Uncertain significance 76
- c.733-1G>T Single submitter premature ovarian failure 2A
- p.Ala125Val Single submitter ⚠
- p.Ala488Val Single submitter ⚠
- p.Ala672Thr Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala870Glu Single submitter ⚠
- p.Ala870Thr Single submitter ⚠
- p.Arg1036Leu Single submitter ⚠
- p.Arg1075Gln Single submitter ⚠
- p.Arg1089Gly Single submitter ⚠
- p.Arg1091Cys Single submitter ⚠
- p.Arg1093His Single submitter ⚠
- p.Arg262Lys Single submitter ⚠
- p.Arg304Gly Single submitter ⚠
- p.Arg355Cys Single submitter ⚠
- p.Arg793His Single submitter ⚠
- p.Arg865Lys Single submitter ⚠
- p.Arg928Ser Single submitter ⚠
- p.Arg97Pro Single submitter ⚠
- p.Asn129Asp Single submitter premature ovarian failure 2A ⚠
- p.Asn30His Single submitter ⚠
- p.Asn642Asp Single submitter ⚠
- p.Asn677Tyr Single submitter ⚠
- p.Asn967Ser Single submitter ⚠
- p.Asp1045Gly Single submitter ⚠
- p.Asp226Val Single submitter ⚠
- p.Asp57Glu Single submitter ⚠
- p.Gln248Lys Single submitter premature ovarian failure 2A ⚠
- p.Gln512His Single submitter ⚠
- p.Glu422Gly Single submitter ⚠
- p.Glu491Gly Single submitter ⚠
- p.Glu494Asp Single submitter ⚠
- p.Glu494Gln Single submitter ⚠
- p.Glu937Gln Single submitter ⚠
- p.Gly573Arg Single submitter ⚠
- p.Gly589Arg Single submitter ⚠
- p.His1094Arg Single submitter ⚠
- p.His925Arg Single submitter ⚠
- p.Ile298Val Single submitter ⚠
- p.Ile347Thr Single submitter ⚠
- p.Ile428Val Single submitter ⚠
- p.Ile441Asn Single submitter ⚠
- p.Ile748Val Single submitter ⚠
- p.Ile760Thr Single submitter ⚠
- p.Ile810Met Single submitter ⚠
- p.Ile988Thr Single submitter ⚠
- p.Leu216Ile Single submitter ⚠
- p.Leu542Pro Single submitter ⚠
- p.Leu557Phe Single submitter ⚠
- p.Leu598Ile Single submitter ⚠
- p.Leu736Val Single submitter ⚠
- p.Leu73Arg Single submitter ⚠
- p.Lys227Arg Single submitter ⚠
- p.Lys228Asn Single submitter ⚠
- p.Lys49Arg Single submitter ⚠
- p.Lys633Arg Single submitter ⚠
- p.Lys712Arg Single submitter ⚠
- p.Phe933Ile Single submitter ⚠
- p.Pro1086Ser Single submitter ⚠
- p.Pro615Leu Single submitter ⚠
- p.Pro615Ser Single submitter ⚠
- p.Pro634Thr Single submitter ⚠
- p.Pro92Ser Single submitter ⚠
- p.Ser543Leu Single submitter ⚠
- p.Thr133Ile Single submitter ⚠
- p.Thr360Ala Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Thr948Ile Single submitter ⚠
- p.Tyr445Cys Single submitter ⚠
- p.Tyr771Cys Single submitter ⚠
- p.Val1085Ala Single submitter ⚠
- p.Val285Gly Single submitter ⚠
- p.Val560Ile Single submitter ⚠
- p.Val901Ile Single submitter premature ovarian failure 2A ⚠
- p.Glu529Ala No assertion criteria premature ovarian failure 2A ⚠
- p.Ile797Phe No assertion criteria ⚠