DRAM2 — 210 ClinVar variants
All ClinVar germline DRAM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
18 Pathogenic · 10 Likely pathogenic · 4 Conflicting · 6 Benign · 71 Likely benign · 101 Uncertain significance
Full DRAM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DRAM2 p.Ile108Val
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DRAM2 p.Ala30Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- DRAM2 p.Ala39Thr Uncertain significance Multiple submitters
-
DRAM2 p.Arg260Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Asp45Gly
Uncertain significance
Multiple submitters
cone-rod dystrophy 21
-
DRAM2 p.Gln145Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Gly132Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.His194Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.His242Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Ile227Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Leu161Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Lys93Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Phe129Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Ser107Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DRAM2 p.Thr140Ser Uncertain significance Multiple submitters
- DRAM2 p.Ala110Thr Uncertain significance Single submitter
- DRAM2 p.Ala210Val Uncertain significance Single submitter
- DRAM2 p.Ala69Val Uncertain significance Single submitter
- DRAM2 p.Arg228His Uncertain significance Single submitter
- DRAM2 p.Arg236Gln Uncertain significance Single submitter
-
DRAM2 p.Arg74Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Asn111Lys Uncertain significance Single submitter
-
DRAM2 p.Asn240Ser
Uncertain significance
Single submitter
inherited retinal dystrophy
- DRAM2 p.Asp248Glu Uncertain significance Single submitter
- DRAM2 p.Asp37His Uncertain significance Single submitter
- DRAM2 p.Asp45Asn Uncertain significance Single submitter
- DRAM2 p.Asp45Glu Uncertain significance Single submitter
- DRAM2 p.Gln191Glu Uncertain significance Single submitter
- DRAM2 p.Gln6Glu Uncertain significance Single submitter
- DRAM2 p.Gly243Arg Uncertain significance Single submitter
- DRAM2 p.Gly95Val Uncertain significance Single submitter
- DRAM2 p.His35Arg Uncertain significance Single submitter
- DRAM2 p.His79Arg Uncertain significance Single submitter
-
DRAM2 p.His79Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Ile24Val Uncertain significance Single submitter
- DRAM2 p.Ile254Val Uncertain significance Single submitter
- DRAM2 p.Ile36Thr Uncertain significance Single submitter
-
DRAM2 p.Ile88Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Leu160Pro Uncertain significance Single submitter
-
DRAM2 p.Leu171Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRAM2 p.Leu55Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Leu81Pro Uncertain significance Single submitter
-
DRAM2 p.Met206Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Phe230Cys Uncertain significance Single submitter
-
DRAM2 p.Pro12Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Pro41Arg Uncertain significance Single submitter
- DRAM2 p.Pro51Leu Uncertain significance Single submitter
-
DRAM2 p.Ser218Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Ser234Tyr Uncertain significance Single submitter
-
DRAM2 p.Ser82Arg
Uncertain significance
Single submitter
inherited retinal dystrophy
- DRAM2 p.Thr209Ile Uncertain significance Single submitter
- DRAM2 p.Thr249Pro Uncertain significance Single submitter
- DRAM2 p.Tyr135His Uncertain significance Single submitter
- DRAM2 p.Tyr247Ser Uncertain significance Single submitter
-
DRAM2 p.Tyr42Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Tyr42Phe Uncertain significance Single submitter
- DRAM2 p.Tyr72Asp Uncertain significance Single submitter
-
DRAM2 p.Val138Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DRAM2 p.Val155Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Val168Ile Uncertain significance Single submitter
- DRAM2 p.Val78Asp Uncertain significance Single submitter
- DRAM2 p.Val87Ile Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
-
DRAM2 p.Ala211Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Leu98Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Pro38Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DRAM2 p.Val203Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DRAM2 p.Ala63Val Uncertain significance Single submitter
-
DRAM2 p.Ala64Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Ala80Pro Uncertain significance Single submitter
- DRAM2 p.Arg228Cys Uncertain significance Single submitter
- DRAM2 p.Arg260Trp Benign Single submitter
- DRAM2 p.Arg74His Uncertain significance Single submitter
- DRAM2 p.Asp37Glu Uncertain significance Single submitter
- DRAM2 p.Gln139Glu Uncertain significance Single submitter
-
DRAM2 p.Gly183Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Gly201Ser Uncertain significance Single submitter
- DRAM2 p.Ile108Ser Uncertain significance Single submitter
- DRAM2 p.Ile24Met Uncertain significance Single submitter
- DRAM2 p.Ile24Thr Uncertain significance Single submitter
- DRAM2 p.Ile28Leu Uncertain significance Single submitter
- DRAM2 p.Ile62Thr Uncertain significance Single submitter
- DRAM2 p.Leu180Trp Uncertain significance Single submitter
-
DRAM2 p.Leu246Pro
Conflicting
Single submitter
cone-rod dystrophy 21
- DRAM2 p.Leu33Arg Uncertain significance Single submitter
- DRAM2 p.Lys192Glu Uncertain significance Single submitter
- DRAM2 p.Thr209Ala Uncertain significance Single submitter
-
DRAM2 p.Thr48Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DRAM2 p.Thr70Ile Uncertain significance Single submitter
- DRAM2 p.Tyr247Cys Uncertain significance Single submitter
- DRAM2 p.Val163Ile Uncertain significance Single submitter
- DRAM2 p.Val16Ala Uncertain significance Single submitter
-
DRAM2 p.Gln77His
Likely pathogenic
No assertion criteria
inherited retinal dystrophy
All DRAM2 variants
Pathogenic 18
- p.Trp165Ter Multiple submitters inherited retinal dystrophy
- p.Tyr27Ter Multiple submitters cone-rod dystrophy 21
- p.Gln147Ter Single submitter
- p.Gln191Ter Single submitter
- p.Gly47fs Single submitter inherited retinal dystrophy
- p.Gly99fs Single submitter
- p.His121Leu Single submitter inherited retinal dystrophy
- p.Leu244Ter Single submitter
- p.Met1Ile Single submitter
- p.Met206fs Single submitter
- p.Met215fs Single submitter
- p.Ser44Asn Single submitter inherited retinal dystrophy
- p.Thr32fs Single submitter
- p.Trp213Ter Single submitter
- p.Trp2Ter Single submitter
- p.Tyr226Ter Single submitter
- p.Tyr27His Single submitter inherited retinal dystrophy
- p.Val73_Tyr75del Single submitter inherited retinal dystrophy
Likely pathogenic 10
- c.340-2A>G Multiple submitters inherited retinal dystrophy
- c.601-1G>A Multiple submitters cone-rod dystrophy 21
- c.199+1G>A Single submitter
- c.200-2_211del Single submitter
- c.518-1G>A Single submitter
- c.693+2T>A Single submitter retinal disorder
- p.Gly105Val Single submitter End-stage retinitis pigmentosa
- p.Leu33fs Single submitter cone-rod dystrophy 21
- p.Gln77His No assertion criteria inherited retinal dystrophy ⚠
- p.Glu190Ter No assertion criteria cone-rod dystrophy 21
Conflicting classifications of pathogenicity 4
- c.517+5C>A Single submitter cone-rod dystrophy
- p.Ala22del Single submitter cone-rod dystrophy 21
- p.Ile108Val Single submitter Inborn genetic diseases ⚠
- p.Leu246Pro Single submitter cone-rod dystrophy 21 ⚠
Benign 6
- c.517+98T>C Multiple submitters
- c.601-9A>G Multiple submitters cone-rod dystrophy 21
- c.693+14A>G Multiple submitters cone-rod dystrophy 21
- c.339+11del Single submitter
- c.693+14_693+15delinsGC Single submitter
- p.Arg260Trp Single submitter ⚠
Likely benign 71
- p.Leu106= Multiple submitters
- c.131+10A>G Single submitter
- c.131+11T>G Single submitter
- c.131+17C>T Single submitter
- c.131+18T>C Single submitter
- c.132-10T>C Single submitter
- c.132-12T>G Single submitter
- c.132-20C>T Single submitter
- c.199+10G>A Single submitter
- c.199+14G>A Single submitter
- c.199+9T>C Single submitter
- c.200-17G>C Single submitter
- c.200-8T>C Single submitter
- c.339+20A>G Single submitter
- c.339+9T>G Single submitter
- c.340-11C>G Single submitter
- c.340-11C>T Single submitter
- c.340-13_340-10del Single submitter
- c.340-9A>C Single submitter
- c.340-9A>G Single submitter
- c.517+12T>C Single submitter
- c.517+14T>C Single submitter
- c.517+17A>G Single submitter
- c.517+18A>G Single submitter
- c.517+19T>C Single submitter
- c.518-11T>C Single submitter
- c.518-17_518-13del Single submitter
- c.518-4A>C Single submitter
- c.518-4A>G Single submitter
- c.518-8T>C Single submitter
- c.600+11A>G Single submitter
- c.600+13A>T Single submitter
- c.600+17T>C Single submitter
- c.600+18A>G Single submitter
- c.601-10_601-9inv Single submitter
- c.601-11C>G Single submitter
- c.601-13T>C Single submitter
- c.601-6A>G Single submitter
- c.694-7G>A Single submitter
- c.694-7G>T Single submitter
- p.Ala239= Single submitter
- p.Ala63= Single submitter
- p.Arg236= Single submitter
- p.Asn86= Single submitter
- p.Asn92= Single submitter
- p.Asp248= Single submitter
- p.Asp265= Single submitter
- p.Glu198= Single submitter
- p.Gly132= Single submitter
- p.His194= Single submitter
- p.Ile164= Single submitter
- p.Leu142= Single submitter
- p.Leu160= Single submitter
- p.Leu204= Single submitter
- p.Leu235= Single submitter
- p.Lys93= Single submitter
- p.Phe129= Single submitter
- p.Phe217= Single submitter
- p.Pro197= Single submitter
- p.Ser102= Single submitter
- p.Ser13= Single submitter
- p.Ser178= Single submitter
- p.Thr116= Single submitter
- p.Thr175= Single submitter
- p.Tyr42= Single submitter
- p.Val155= Single submitter
- p.Val237= Single submitter
- p.Val97= Single submitter
- c.694-4C>A No assertion criteria DRAM2-related disorder
- c.694-5T>A No assertion criteria DRAM2-related disorder
- c.694-6T>G No assertion criteria DRAM2-related disorder
Uncertain significance 101
- c.199+6T>G Multiple submitters cone-rod dystrophy 21
- p.Ala211Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala30Val Multiple submitters inherited retinal dystrophy ⚠
- p.Ala39Thr Multiple submitters ⚠
- p.Arg260Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asp45Gly Multiple submitters cone-rod dystrophy 21 ⚠
- p.Gln145Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly132Asp Multiple submitters Inborn genetic diseases ⚠
- p.His194Arg Multiple submitters Inborn genetic diseases ⚠
- p.His242Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile227Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu161Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu98Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys93Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe129Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro38Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser107Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr140Ser Multiple submitters ⚠
- p.Trp3del Multiple submitters cone-rod dystrophy 21
- p.Val203Met Multiple submitters Inborn genetic diseases ⚠
- c.132-6T>C Single submitter Retinitis pigmentosa sine pigmento with macular involvement
- c.199+7A>T Single submitter
- c.200-14T>G Single submitter
- c.600+6A>T Single submitter
- c.693+10C>T Single submitter
- c.693+13_693+14delinsGG Single submitter
- p.Ala110Thr Single submitter ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala64Gly Single submitter Inborn genetic diseases ⚠
- p.Ala69Val Single submitter ⚠
- p.Ala80Pro Single submitter ⚠
- p.Arg228Cys Single submitter ⚠
- p.Arg228His Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg258Ter Single submitter
- p.Arg74Cys Single submitter Inborn genetic diseases ⚠
- p.Arg74His Single submitter ⚠
- p.Asn111Lys Single submitter ⚠
- p.Asn240Ser Single submitter inherited retinal dystrophy ⚠
- p.Asp248Glu Single submitter ⚠
- p.Asp37Glu Single submitter ⚠
- p.Asp37His Single submitter ⚠
- p.Asp45Asn Single submitter ⚠
- p.Asp45Glu Single submitter ⚠
- p.Gln139Glu Single submitter ⚠
- p.Gln147Pro Single submitter
- p.Gln191Glu Single submitter ⚠
- p.Gln6Glu Single submitter ⚠
- p.Gly183Asp Single submitter Inborn genetic diseases ⚠
- p.Gly201Ser Single submitter ⚠
- p.Gly243Arg Single submitter ⚠
- p.Gly95Val Single submitter ⚠
- p.His35Arg Single submitter ⚠
- p.His79Arg Single submitter ⚠
- p.His79Leu Single submitter Inborn genetic diseases ⚠
- p.Ile108Ser Single submitter ⚠
- p.Ile24Met Single submitter ⚠
- p.Ile24Thr Single submitter ⚠
- p.Ile24Val Single submitter ⚠
- p.Ile254Val Single submitter ⚠
- p.Ile28Leu Single submitter ⚠
- p.Ile36Thr Single submitter ⚠
- p.Ile62Thr Single submitter ⚠
- p.Ile88Thr Single submitter Inborn genetic diseases ⚠
- p.Ile89del Single submitter
- p.Leu160Pro Single submitter ⚠
- p.Leu171Val Single submitter Inborn genetic diseases ⚠
- p.Leu180Trp Single submitter ⚠
- p.Leu33Arg Single submitter ⚠
- p.Leu55Val Single submitter Inborn genetic diseases ⚠
- p.Leu81Pro Single submitter ⚠
- p.Lys192Glu Single submitter ⚠
- p.Met206Thr Single submitter Inborn genetic diseases ⚠
- p.Phe230Cys Single submitter ⚠
- p.Pro12Ser Single submitter Inborn genetic diseases ⚠
- p.Pro253fs Single submitter
- p.Pro41Arg Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Ser172= Single submitter
- p.Ser218Pro Single submitter Inborn genetic diseases ⚠
- p.Ser234Tyr Single submitter ⚠
- p.Ser82Arg Single submitter inherited retinal dystrophy ⚠
- p.Thr209Ala Single submitter ⚠
- p.Thr209Ile Single submitter ⚠
- p.Thr249Pro Single submitter ⚠
- p.Thr48Ile Single submitter Inborn genetic diseases ⚠
- p.Thr70Ile Single submitter ⚠
- p.Tyr135His Single submitter ⚠
- p.Tyr247Cys Single submitter ⚠
- p.Tyr247Ser Single submitter ⚠
- p.Tyr42Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr42Phe Single submitter ⚠
- p.Tyr72Asp Single submitter ⚠
- p.Val138Leu Single submitter Inborn genetic diseases ⚠
- p.Val155Ile Single submitter Inborn genetic diseases ⚠
- p.Val163Ile Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val16Ala Single submitter ⚠
- p.Val78Asp Single submitter ⚠
- p.Val87Ile Single submitter ⚠