DAB2IP — 204 ClinVar variants

All ClinVar germline DAB2IP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

7 Benign · 1 Benign/Likely benign · 9 Likely benign · 187 Uncertain significance

Full DAB2IP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 187

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 111

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

Predictors split 76

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

All DAB2IP variants

Benign 7

p.Ala816Thr Multiple submitters
p.Arg199= Multiple submitters
p.Arg966His Multiple submitters
p.Lys284= Multiple submitters
p.Ser460Leu Multiple submitters ⚠
p.Tyr334= Multiple submitters
p.Leu367= Single submitter

Benign/Likely benign 1

p.Asp97= Multiple submitters

Likely benign 9

p.Pro126= Multiple submitters
p.Ser68= Multiple submitters
c.363-19312G>A Single submitter
p.Ala1003= Single submitter
p.Gly1084= Single submitter
p.Gly815= Single submitter
p.Pro266= Single submitter
p.Ser86= Single submitter
p.Val628Ile Single submitter

Uncertain significance 187

c.*1039A>G Single submitter
p.Ala1118Thr Single submitter ⚠
p.Ala1123Ser Single submitter ⚠
p.Ala113Val Single submitter ⚠
p.Ala1146Val Single submitter ⚠
p.Ala114Val Single submitter ⚠
p.Ala116Ser Single submitter ⚠
p.Ala143Ser Single submitter ⚠
p.Ala143Val Single submitter ⚠
p.Ala146Val Single submitter ⚠
p.Ala418Thr Single submitter ⚠
p.Ala437Thr Single submitter ⚠
p.Ala478Val Single submitter ⚠
p.Ala605Ser Single submitter ⚠
p.Ala668Val Single submitter ⚠
p.Ala754Thr Single submitter ⚠
p.Ala765Val Single submitter ⚠
p.Ala777Thr Single submitter ⚠
p.Ala787Ser Single submitter ⚠
p.Ala798Thr Single submitter ⚠
p.Ala803Ser Single submitter ⚠
p.Ala816Val Single submitter ⚠
p.Ala836Val Single submitter ⚠
p.Ala837Ser Single submitter ⚠
p.Ala868Ser Single submitter ⚠
p.Ala879Thr Single submitter ⚠
p.Ala879Val Single submitter ⚠
p.Ala954Val Single submitter ⚠
p.Arg1080Trp Single submitter ⚠
p.Arg1087Trp Single submitter ⚠
p.Arg1090Trp Single submitter ⚠
p.Arg1137His Single submitter ⚠
p.Arg190Gln Single submitter ⚠
p.Arg198Trp Single submitter ⚠
p.Arg210Cys Single submitter ⚠
p.Arg210His Single submitter ⚠
p.Arg244His Single submitter ⚠
p.Arg269Cys Single submitter ⚠
p.Arg269His Single submitter ⚠
p.Arg277Trp Single submitter ⚠
p.Arg287His Single submitter ⚠
p.Arg333Cys Single submitter ⚠
p.Arg47Ser Single submitter ⚠
p.Arg515Gln Single submitter ⚠
p.Arg51Gln Single submitter ⚠
p.Arg51Leu Single submitter ⚠
p.Arg644Trp Single submitter ⚠
p.Arg699Gln Single submitter ⚠
p.Arg725Cys Single submitter ⚠
p.Arg725His Single submitter ⚠
p.Arg74Leu Single submitter ⚠
p.Arg74Trp Single submitter ⚠
p.Arg755Cys Single submitter ⚠
p.Arg755His Single submitter ⚠
p.Arg788Trp Single submitter ⚠
p.Arg819Trp Single submitter ⚠
p.Arg82His Single submitter ⚠
p.Arg884Gln Single submitter ⚠
p.Arg884Pro Single submitter ⚠
p.Arg891Gln Single submitter ⚠
p.Arg892Gln Single submitter ⚠
p.Arg932Cys Single submitter ⚠
p.Arg932His Single submitter ⚠
p.Arg934Gln Single submitter ⚠
p.Arg934Trp Single submitter ⚠
p.Arg984Gln Single submitter ⚠
p.Arg984Trp Single submitter ⚠
p.Asn119Ser Single submitter ⚠
p.Asn407Asp Single submitter ⚠
p.Asn741Ser Single submitter ⚠
p.Asn938Asp Single submitter ⚠
p.Asp1142Tyr Single submitter ⚠
p.Asp168Gly Single submitter ⚠
p.Asp252Glu Single submitter ⚠
p.Asp406Asn Single submitter ⚠
p.Asp406Glu Single submitter ⚠
p.Asp449Val Single submitter ⚠
p.Asp690Asn Single submitter ⚠
p.Asp736Glu Single submitter ⚠
p.Asp758Ala Single submitter ⚠
p.Asp768Asn Single submitter ⚠
p.Asp773Glu Single submitter ⚠
p.Asp848Asn Single submitter ⚠
p.Asp918Asn Single submitter ⚠
p.Cys236Phe Single submitter ⚠
p.Cys360Ser Single submitter ⚠
p.Gln1071Lys Single submitter ⚠
p.Glu1085Lys Single submitter ⚠
p.Glu135Lys Single submitter ⚠
p.Glu153Gly Single submitter ⚠
p.Glu234Lys Single submitter ⚠
p.Glu424Asp Single submitter ⚠
p.Glu888Asp Single submitter ⚠
p.Gly320Asp Single submitter ⚠
p.Gly321Ser Single submitter ⚠
p.Gly405Arg Single submitter ⚠
p.Gly659Arg Single submitter ⚠
p.Gly672Cys Single submitter ⚠
p.Gly718Arg Single submitter ⚠
p.Gly742Asp Single submitter ⚠
p.Gly742Ser Single submitter ⚠
p.Gly762Arg Single submitter ⚠
p.Gly77Ser Single submitter ⚠
p.Gly784Arg Single submitter ⚠
p.Gly933Asp Single submitter ⚠
p.Gly933Ser Single submitter ⚠
p.His1025Asp Single submitter ⚠
p.His1025Tyr Single submitter ⚠
p.His274Gln Single submitter ⚠
p.His583Tyr Single submitter ⚠
p.Leu128Pro Single submitter ⚠
p.Leu737Phe Single submitter ⚠
p.Leu751Phe Single submitter ⚠
p.Leu96Met Single submitter ⚠
p.Leu96Pro Single submitter ⚠
p.Lys1064Glu Single submitter ⚠
p.Lys192Arg Single submitter ⚠
p.Lys309Arg Single submitter ⚠
p.Lys322Glu Single submitter ⚠
p.Lys390Gln Single submitter ⚠
p.Lys556Arg Single submitter ⚠
p.Lys744Asn Single submitter ⚠
p.Met397Thr Single submitter ⚠
p.Met588Leu Single submitter ⚠
p.Met748Ile Single submitter ⚠
p.Met894Lys Single submitter ⚠
p.Phe109Cys Single submitter ⚠
p.Phe711Tyr Single submitter ⚠
p.Pro1021Ser Single submitter ⚠
p.Pro1023Ala Single submitter ⚠
p.Pro1023Thr Single submitter ⚠
p.Pro1024Arg Single submitter ⚠
p.Pro1024His Single submitter ⚠
p.Pro107Ser Single submitter ⚠
p.Pro126Leu Single submitter ⚠
p.Pro203Leu Single submitter ⚠
p.Pro266Leu Single submitter ⚠
p.Pro465Ser Single submitter ⚠
p.Pro510Leu Single submitter ⚠
p.Pro662Leu Single submitter ⚠
p.Pro671Leu Single submitter ⚠
p.Pro701Leu Single submitter ⚠
p.Pro705Leu Single submitter ⚠
p.Pro723Ser Single submitter ⚠
p.Pro72Leu Single submitter ⚠
p.Pro764Leu Single submitter ⚠
p.Pro840Leu Single submitter ⚠
p.Pro925Arg Single submitter ⚠
p.Pro925Leu Single submitter ⚠
p.Pro937Leu Single submitter ⚠
p.Pro983Leu Single submitter ⚠
p.Pro993Ser Single submitter ⚠
p.Ser1140Leu Single submitter ⚠
p.Ser208Ile Single submitter ⚠
p.Ser43Leu Single submitter ⚠
p.Ser506Thr Single submitter ⚠
p.Ser64Arg Single submitter ⚠
p.Ser692Pro Single submitter ⚠
p.Ser716Phe Single submitter ⚠
p.Ser727Leu Single submitter ⚠
p.Ser728Cys Single submitter ⚠
p.Ser856Phe Single submitter ⚠
p.Ser874Gly Single submitter ⚠
p.Ser910Asn Single submitter ⚠
p.Ser950Gly Single submitter ⚠
p.Thr1053Ser Single submitter ⚠
p.Thr175Met Single submitter ⚠
p.Thr245Ser Single submitter ⚠
p.Thr246Ala Single submitter ⚠
p.Thr272Ile Single submitter ⚠
p.Thr315Met Single submitter ⚠
p.Thr547Ile Single submitter ⚠
p.Thr698Ile Single submitter ⚠
p.Thr76Met Single submitter ⚠
p.Thr799Met Single submitter ⚠
p.Thr812Asn Single submitter ⚠
p.Thr812Ile Single submitter ⚠
p.Thr942Ile Single submitter ⚠
p.Trp960Arg Single submitter ⚠
p.Trp960Cys Single submitter ⚠
p.Val173Met Single submitter ⚠
p.Val307Met Single submitter ⚠
p.Val488Gly Single submitter ⚠
p.Val636Ala Single submitter ⚠
p.Val686Met Single submitter ⚠
p.Val961Met Single submitter ⚠
p.Pro920Leu No assertion criteria keratoconus ⚠