MMEL1 — 154 ClinVar variants

All ClinVar germline MMEL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

9 Benign · 14 Likely benign · 131 Uncertain significance

Full MMEL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 126

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 97

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

Predictors split 29

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

All MMEL1 variants

Benign 9

p.Ala497= Multiple submitters
p.Asp708Asn Multiple submitters
p.Gln302Arg Multiple submitters
p.Glu492= Multiple submitters
p.Leu212= Multiple submitters
c.2002-5C>T Single submitter
c.2163+10G>A Single submitter
p.Met258Leu Single submitter
p.Thr616= Single submitter

Likely benign 14

p.Ile678Thr Multiple submitters
p.Thr286= Multiple submitters
c.454+20G>T Single submitter
p.Ala221= Single submitter
p.Ala573= Single submitter
p.Arg521His Single submitter
p.Asp327= Single submitter
p.Asp664= Single submitter
p.Gln66Lys Single submitter
p.Glu213Lys Single submitter
p.Gly706Ser Single submitter ⚠
p.Leu359= Single submitter
p.Leu563= Single submitter
p.Tyr653His Single submitter

Uncertain significance 131

p.Ala450Thr Single submitter ⚠
p.Ala459Val Single submitter ⚠
p.Ala497Val Single submitter ⚠
p.Ala548Thr Single submitter ⚠
p.Ala569Val Single submitter ⚠
p.Ala573Val Single submitter ⚠
p.Ala696Val Single submitter ⚠
p.Ala732Thr Single submitter ⚠
p.Ala759Thr Single submitter ⚠
p.Arg126Cys Single submitter ⚠
p.Arg143His Single submitter ⚠
p.Arg162Trp Single submitter ⚠
p.Arg173Ser Single submitter ⚠
p.Arg230Ser Single submitter ⚠
p.Arg246Trp Single submitter ⚠
p.Arg261Gln Single submitter ⚠
p.Arg289Leu Single submitter
p.Arg334Gln Single submitter ⚠
p.Arg402His Single submitter ⚠
p.Arg407Cys Single submitter ⚠
p.Arg407Leu Single submitter
p.Arg419Gln Single submitter ⚠
p.Arg423His Single submitter ⚠
p.Arg437Cys Single submitter ⚠
p.Arg505Gln Single submitter ⚠
p.Arg556Trp Single submitter ⚠
p.Arg57Cys Single submitter ⚠
p.Arg57His Single submitter ⚠
p.Arg645Gln Single submitter ⚠
p.Arg766Trp Single submitter ⚠
p.Asn207Lys Single submitter ⚠
p.Asn350Lys Single submitter ⚠
p.Asn638Thr Single submitter ⚠
p.Asp113Tyr Single submitter ⚠
p.Asp144Glu Single submitter
p.Asp234Asn Single submitter ⚠
p.Asp304Asn Single submitter ⚠
p.Asp627Asn Single submitter ⚠
p.Asp627Glu Single submitter ⚠
p.Asp661Asn Single submitter ⚠
p.Cys724Arg Single submitter ⚠
p.Cys94Gly Single submitter ⚠
p.Gln187His Single submitter ⚠
p.Gln302Leu Single submitter ⚠
p.Gln542His Single submitter ⚠
p.Glu145Lys Single submitter ⚠
p.Glu213Gln Single submitter ⚠
p.Glu290Lys Single submitter ⚠
p.Glu485Gln Single submitter ⚠
p.Glu485Lys Single submitter ⚠
p.Glu524Lys Single submitter ⚠
p.Glu68Lys Single submitter ⚠
p.Glu730Lys Single submitter ⚠
p.Gly268Arg Single submitter ⚠
p.Gly336Ala Single submitter ⚠
p.Gly612Arg Single submitter ⚠
p.Gly630Ser Single submitter ⚠
p.Gly675Ala Single submitter ⚠
p.Gly675Arg Single submitter ⚠
p.Gly682Ala Single submitter ⚠
p.Gly682Arg Single submitter ⚠
p.Gly683Arg Single submitter ⚠
p.Gly683Val Single submitter ⚠
p.Gly725Arg Single submitter ⚠
p.Gly767Arg Single submitter ⚠
p.His617Pro Single submitter ⚠
p.His741Tyr Single submitter ⚠
p.His763Arg Single submitter ⚠
p.His771Tyr Single submitter ⚠
p.Ile387Phe Single submitter ⚠
p.Ile565Val Single submitter ⚠
p.Ile607Val Single submitter ⚠
p.Ile678Leu Single submitter ⚠
p.Ile678Val Single submitter ⚠
p.Ile96Thr Single submitter ⚠
p.Ile96Val Single submitter ⚠
p.Leu102Phe Single submitter ⚠
p.Leu150Phe Single submitter ⚠
p.Leu190Met Single submitter ⚠
p.Leu340Met Single submitter ⚠
p.Leu602Phe Single submitter ⚠
p.Leu744Pro Single submitter ⚠
p.Lys474Glu Single submitter ⚠
p.Lys700Thr Single submitter ⚠
p.Lys745Asn Single submitter ⚠
p.Met105Val Single submitter ⚠
p.Met223Leu Single submitter ⚠
p.Met258Val Single submitter ⚠
p.Met609Leu Single submitter
p.Met651Leu Single submitter ⚠
p.Met651Thr Single submitter ⚠
p.Met695Val Single submitter ⚠
p.Phe139Ser Single submitter ⚠
p.Phe265Cys Single submitter ⚠
p.Phe574Ile Single submitter ⚠
p.Phe604Leu Single submitter ⚠
p.Phe619Leu Single submitter ⚠
p.Phe716Ile Single submitter ⚠
p.Phe762Leu Single submitter ⚠
p.Pro107Ser Single submitter ⚠
p.Pro200Leu Single submitter ⚠
p.Pro321Thr Single submitter ⚠
p.Pro592His Single submitter ⚠
p.Pro76Ser Single submitter ⚠
p.Pro80Thr Single submitter ⚠
p.Pro92His Single submitter ⚠
p.Ser179Arg Single submitter ⚠
p.Ser493Phe Single submitter ⚠
p.Ser493Thr Single submitter ⚠
p.Ser503Arg Single submitter ⚠
p.Ser527Phe Single submitter ⚠
p.Ser86Arg Single submitter ⚠
p.Thr313Ala Single submitter ⚠
p.Thr357Ile Single submitter ⚠
p.Thr394Ser Single submitter ⚠
p.Thr70Ile Single submitter ⚠
p.Thr768Asn Single submitter ⚠
p.Thr90Pro Single submitter ⚠
p.Trp660Arg Single submitter ⚠
p.Val128Met Single submitter ⚠
p.Val210Ile Single submitter ⚠
p.Val328Asp Single submitter
p.Val328Ile Single submitter ⚠
p.Val362Ile Single submitter ⚠
p.Val440Met Single submitter ⚠
p.Val443Ile Single submitter ⚠
p.Val571Ile Single submitter ⚠
p.Val583Glu Single submitter ⚠
p.Val722Ala Single submitter ⚠
p.Val740Ile Single submitter ⚠
p.Val778Met Single submitter