RABL6 — 219 ClinVar variants

All ClinVar germline RABL6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 161 flagged for review →

1 Conflicting · 6 Benign · 3 Benign/Likely benign · 40 Likely benign · 169 Uncertain significance

Full RABL6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 161

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.

RABL6 p.Gly429Arg Conflicting Single submitter

Predictors lean, ClinVar uncertain 141

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

Predictors split 19

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

All RABL6 variants

Conflicting classifications of pathogenicity 1

p.Gly429Arg Single submitter ⚠

Benign 6

p.Arg533His Multiple submitters
p.Pro518Leu Multiple submitters
p.Pro539= Multiple submitters
c.809+10C>G Single submitter
p.Asp412= Single submitter
p.Lys660del Single submitter

Benign/Likely benign 3

p.Arg280His Multiple submitters
p.Pro557= Multiple submitters
p.Ser470= Multiple submitters

Likely benign 40

p.Ser625= Multiple submitters
c.1126+18C>T Single submitter
c.130+12G>A Single submitter
c.1493+11G>T Single submitter
c.1758+20G>A Single submitter
c.1931-11T>C Single submitter
c.458+17G>A Single submitter
c.705+1532T>C Single submitter
c.705+1588A>G Single submitter
c.705+15C>T Single submitter
c.*79G>A Single submitter
p.Ala287Val Single submitter
p.Ala306Thr Single submitter
p.Ala328Thr Single submitter
p.Ala562= Single submitter
p.Ala586Val Single submitter
p.Ala606= Single submitter
p.Ala618Thr Single submitter
p.Arg527= Single submitter
p.Arg527His Single submitter
p.Arg537Lys Single submitter
p.Asp112= Single submitter
p.Asp135= Single submitter
p.Asp588Glu Single submitter
p.Asp593Glu Single submitter
p.Glu472Asp Single submitter
p.Gly315Ser Single submitter
p.Gly434Ser Single submitter
p.Leu174= Single submitter
p.Leu457Pro Single submitter
p.Leu711= Single submitter
p.Pro295= Single submitter
p.Pro314= Single submitter
p.Pro379Leu Single submitter
p.Pro456Leu Single submitter
p.Pro486Leu Single submitter
p.Pro590= Single submitter
p.Pro595Leu Single submitter
p.Pro716= Single submitter
p.Pro721= Single submitter

Uncertain significance 169

p.Arg690Gln Multiple submitters ⚠
p.Ser402Thr Multiple submitters ⚠
p.Ser535Gly Multiple submitters ⚠
p.Ala123Val Single submitter ⚠
p.Ala320Thr Single submitter ⚠
p.Ala327Val Single submitter ⚠
p.Ala370Val Single submitter ⚠
p.Ala381Thr Single submitter ⚠
p.Ala410Thr Single submitter ⚠
p.Ala418Thr Single submitter ⚠
p.Ala439Val Single submitter ⚠
p.Ala487Val Single submitter ⚠
p.Ala516Thr Single submitter ⚠
p.Ala586Thr Single submitter ⚠
p.Arg110Pro Single submitter
p.Arg192His Single submitter ⚠
p.Arg278His Single submitter ⚠
p.Arg354Gln Single submitter ⚠
p.Arg398Cys Single submitter ⚠
p.Arg398His Single submitter ⚠
p.Arg401Cys Single submitter ⚠
p.Arg401His Single submitter ⚠
p.Arg452Cys Single submitter ⚠
p.Arg514Ser Single submitter ⚠
p.Arg533Cys Single submitter ⚠
p.Arg533Ser Single submitter ⚠
p.Arg537Gly Single submitter ⚠
p.Arg584Cys Single submitter ⚠
p.Arg584His Single submitter ⚠
p.Arg584Ser Single submitter ⚠
p.Arg592Gln Single submitter ⚠
p.Arg66Trp Single submitter ⚠
p.Arg688Gln Single submitter ⚠
p.Arg688Pro Single submitter ⚠
p.Arg688Trp Single submitter ⚠
p.Arg690Pro Single submitter ⚠
p.Arg694Gln Single submitter ⚠
p.Arg697His Single submitter ⚠
p.Arg697Pro Single submitter ⚠
p.Arg697Ser Single submitter ⚠
p.Arg701Gly Single submitter ⚠
p.Arg719Gly Single submitter ⚠
p.Arg719His Single submitter ⚠
p.Arg719Pro Single submitter ⚠
p.Asn141Ser Single submitter ⚠
p.Asn176Thr Single submitter ⚠
p.Asn326Ser Single submitter ⚠
p.Asp196Asn Single submitter ⚠
p.Asp400His Single submitter ⚠
p.Asp424His Single submitter ⚠
p.Asp444Asn Single submitter ⚠
p.Asp449Tyr Single submitter ⚠
p.Asp51Glu Single submitter ⚠
p.Asp574Asn Single submitter
p.Asp725Gly Single submitter ⚠
p.Cys347Phe Single submitter ⚠
p.Gln388Ter Single submitter
p.Glu276Gly Single submitter ⚠
p.Glu369Lys Single submitter ⚠
p.Glu476Lys Single submitter ⚠
p.Glu548Ala Single submitter ⚠
p.Glu548Asp Single submitter ⚠
p.Glu558Lys Single submitter
p.Glu578Lys Single submitter ⚠
p.Glu601Lys Single submitter ⚠
p.Glu687Lys Single submitter ⚠
p.Glu727Lys Single submitter ⚠
p.Gly16Ala Single submitter ⚠
p.Gly269Ser Single submitter ⚠
p.Gly315Arg Single submitter ⚠
p.Gly434Asp Single submitter ⚠
p.Gly440Arg Single submitter ⚠
p.Gly629Arg Single submitter ⚠
p.Gly636Glu Single submitter ⚠
p.Gly647Asp Single submitter ⚠
p.Gly684Asp Single submitter ⚠
p.His675Gln Single submitter ⚠
p.His720Pro Single submitter ⚠
p.Leu159Phe Single submitter ⚠
p.Leu254Val Single submitter ⚠
p.Leu257Val Single submitter ⚠
p.Leu399Pro Single submitter ⚠
p.Leu729Val Single submitter ⚠
p.Lys225Glu Single submitter ⚠
p.Lys415Arg Single submitter ⚠
p.Lys546Asn Single submitter ⚠
p.Lys656Asn Single submitter ⚠
p.Met146Val Single submitter ⚠
p.Met275Ile Single submitter ⚠
p.Met437Leu Single submitter ⚠
p.Phe441Ile Single submitter
p.Phe619Cys Single submitter ⚠
p.Phe628Cys Single submitter ⚠
p.Pro15Leu Single submitter ⚠
p.Pro170Leu Single submitter ⚠
p.Pro201Ser Single submitter ⚠
p.Pro22Ser Single submitter ⚠
p.Pro293Thr Single submitter ⚠
p.Pro295Leu Single submitter ⚠
p.Pro300Leu Single submitter ⚠
p.Pro329Leu Single submitter ⚠
p.Pro375Ser Single submitter ⚠
p.Pro409Ser Single submitter ⚠
p.Pro436Leu Single submitter ⚠
p.Pro451Leu Single submitter ⚠
p.Pro456Ser Single submitter ⚠
p.Pro458Leu Single submitter ⚠
p.Pro463Leu Single submitter ⚠
p.Pro480Thr Single submitter ⚠
p.Pro484Ser Single submitter ⚠
p.Pro486Ser Single submitter ⚠
p.Pro488Thr Single submitter ⚠
p.Pro502Leu Single submitter ⚠
p.Pro512Ser Single submitter ⚠
p.Pro518Arg Single submitter ⚠
p.Pro518His Single submitter ⚠
p.Pro519Arg Single submitter ⚠
p.Pro539Arg Single submitter ⚠
p.Pro539Ser Single submitter ⚠
p.Pro544Leu Single submitter ⚠
p.Pro557Leu Single submitter ⚠
p.Pro560Ser Single submitter ⚠
p.Pro573Leu Single submitter
p.Pro595Ser Single submitter ⚠
p.Pro611Leu Single submitter ⚠
p.Pro611Ser Single submitter ⚠
p.Pro611Thr Single submitter ⚠
p.Pro612Ala Single submitter ⚠
p.Pro612Arg Single submitter ⚠
p.Pro612His Single submitter ⚠
p.Pro612Ser Single submitter ⚠
p.Pro617Arg Single submitter ⚠
p.Pro696Leu Single submitter ⚠
p.Pro696Ser Single submitter ⚠
p.Ser258Leu Single submitter ⚠
p.Ser279Gly Single submitter ⚠
p.Ser299Leu Single submitter ⚠
p.Ser349Leu Single submitter ⚠
p.Ser525Cys Single submitter ⚠
p.Ser525Pro Single submitter ⚠
p.Ser534Asn Single submitter ⚠
p.Ser552Leu Single submitter ⚠
p.Ser552Pro Single submitter ⚠
p.Ser553Leu Single submitter ⚠
p.Ser625Leu Single submitter ⚠
p.Ser673Cys Single submitter ⚠
p.Ser698Asn Single submitter ⚠
p.Thr309Met Single submitter ⚠
p.Thr510Ser Single submitter ⚠
p.Thr515Ile Single submitter ⚠
p.Thr536Ile Single submitter ⚠
p.Thr649Asn Single submitter ⚠
p.Thr702Lys Single submitter ⚠
p.Thr702Met Single submitter ⚠
p.Tyr206Cys Single submitter ⚠
p.Tyr222Cys Single submitter ⚠
p.Val169Met Single submitter
p.Val173Met Single submitter ⚠
p.Val191Met Single submitter ⚠
p.Val336Ile Single submitter ⚠
p.Val390Met Single submitter ⚠
p.Val445Glu Single submitter
p.Val569Ile Single submitter ⚠
p.Val591Met Single submitter ⚠
p.Val69Leu Single submitter ⚠
p.Val69Met Single submitter ⚠
p.Gly281Asp No assertion criteria Meniere disease ⚠
p.Leu432= No assertion criteria Meniere disease
p.Ser365Leu No assertion criteria Meniere disease ⚠