DGCR2 — 111 ClinVar variants

All ClinVar germline DGCR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →

4 Benign · 1 Benign/Likely benign · 6 Likely benign · 100 Uncertain significance

Full DGCR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 100

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 67

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

Predictors split 33

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

All DGCR2 variants

Benign 4

p.Ala141= Multiple submitters
p.Leu11= Multiple submitters
p.Arg492His Single submitter
p.Ser226= Single submitter

Benign/Likely benign 1

p.Pro439= Multiple submitters

Likely benign 6

p.Ala511= Single submitter
p.Asn101= Single submitter
p.Asp418= Single submitter
p.His369Tyr Single submitter
p.Leu363= Single submitter
p.Ser357del Single submitter

Uncertain significance 100

p.Arg74His Multiple submitters ⚠
p.Val102Met Multiple submitters ⚠
p.Ala142Glu Single submitter ⚠
p.Ala153Thr Single submitter ⚠
p.Ala469Gly Single submitter ⚠
p.Ala469Thr Single submitter ⚠
p.Ala524Val Single submitter ⚠
p.Ala531Gly Single submitter ⚠
p.Ala99Val Single submitter ⚠
p.Arg147His Single submitter ⚠
p.Arg147Leu Single submitter ⚠
p.Arg162Leu Single submitter ⚠
p.Arg174Gln Single submitter ⚠
p.Arg174Pro Single submitter ⚠
p.Arg174Trp Single submitter ⚠
p.Arg195Gln Single submitter ⚠
p.Arg197Cys Single submitter ⚠
p.Arg202Cys Single submitter ⚠
p.Arg245Trp Single submitter ⚠
p.Arg29Gln Single submitter ⚠
p.Arg378His Single submitter ⚠
p.Arg394Cys Single submitter ⚠
p.Arg491Gln Single submitter ⚠
p.Arg491Pro Single submitter ⚠
p.Arg491Trp Single submitter ⚠
p.Arg492Cys Single submitter ⚠
p.Arg540His Single submitter ⚠
p.Arg543His Single submitter ⚠
p.Arg85Trp Single submitter ⚠
p.Arg88Gln Single submitter ⚠
p.Arg88Trp Single submitter ⚠
p.Asn230Ser Single submitter ⚠
p.Asn277Ser Single submitter ⚠
p.Asn65Ser Single submitter ⚠
p.Asp229His Single submitter ⚠
p.Asp342His Single submitter ⚠
p.Asp463Glu Single submitter ⚠
p.Asp463Tyr Single submitter ⚠
p.Asp509Tyr Single submitter ⚠
p.Asp512Asn Single submitter ⚠
p.Cys271Tyr Single submitter ⚠
p.Gln104Leu Single submitter ⚠
p.Gln159Arg Single submitter ⚠
p.Gln159Lys Single submitter ⚠
p.Gln319His Single submitter ⚠
p.Glu123Gly Single submitter ⚠
p.Glu200Asp Single submitter ⚠
p.Glu22Gln Single submitter ⚠
p.Glu255Lys Single submitter ⚠
p.Glu452Lys Single submitter ⚠
p.Gly135Arg Single submitter ⚠
p.Gly301Arg Single submitter ⚠
p.Gly347Arg Single submitter ⚠
p.Gly405Arg Single submitter ⚠
p.Gly419Arg Single submitter ⚠
p.Gly483Asp Single submitter ⚠
p.Gly527Arg Single submitter ⚠
p.His246Tyr Single submitter ⚠
p.His247Arg Single submitter ⚠
p.His369Arg Single submitter ⚠
p.His414Arg Single submitter ⚠
p.His425Arg Single submitter ⚠
p.His425Asp Single submitter ⚠
p.Ile360Val Single submitter ⚠
p.Ile441Thr Single submitter ⚠
p.Leu133Val Single submitter ⚠
p.Leu546Phe Single submitter ⚠
p.Lys114Met Single submitter ⚠
p.Lys4Arg Single submitter ⚠
p.Met344Val Single submitter ⚠
p.Phe207Leu Single submitter ⚠
p.Phe97Leu Single submitter ⚠
p.Pro116Ala Single submitter ⚠
p.Pro116Leu Single submitter ⚠
p.Pro314Leu Single submitter ⚠
p.Pro439Leu Single submitter ⚠
p.Pro450Thr Single submitter ⚠
p.Pro457Leu Single submitter ⚠
p.Pro464Ser Single submitter ⚠
p.Pro521Arg Single submitter ⚠
p.Pro530Ala Single submitter ⚠
p.Pro94Thr Single submitter ⚠
p.Ser151Cys Single submitter ⚠
p.Ser156Cys Single submitter ⚠
p.Ser175Asn Single submitter ⚠
p.Ser454Phe Single submitter ⚠
p.Ser503Cys Single submitter ⚠
p.Ser95Leu Single submitter ⚠
p.Thr125Met Single submitter ⚠
p.Thr144Ala Single submitter ⚠
p.Thr193Ile Single submitter ⚠
p.Thr408Met Single submitter ⚠
p.Thr411Met Single submitter ⚠
p.Thr423Ile Single submitter ⚠
p.Val106Ile Single submitter ⚠
p.Val231Met Single submitter ⚠
p.Val352Ile Single submitter ⚠
p.Val473Met Single submitter ⚠
p.Val519Leu Single submitter ⚠
p.Val519Met Single submitter ⚠