MID2 — 38 ClinVar variants
All ClinVar germline MID2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Benign · 1 Benign/Likely benign · 5 Likely benign · 31 Uncertain significance
Full MID2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MID2 p.Ala150Ser
Uncertain significance
Multiple submitters
intellectual disability, X-linked 101
- MID2 p.Arg121His Uncertain significance Multiple submitters
- MID2 p.Arg105Pro Uncertain significance Single submitter
- MID2 p.Arg121Cys Uncertain significance Single submitter
- MID2 p.Arg121Leu Uncertain significance Single submitter
- MID2 p.Arg122Gln Uncertain significance Single submitter
- MID2 p.Arg253His Uncertain significance Single submitter
- MID2 p.Asp187Gly Uncertain significance Single submitter
- MID2 p.Glu119Gly Uncertain significance Single submitter
- MID2 p.Glu256Asp Uncertain significance Single submitter
-
MID2 p.Ile103Ser
Uncertain significance
Single submitter
intellectual disability, X-linked 101
- MID2 p.Lys263Arg Uncertain significance Single submitter
- MID2 p.Pro117Ala Uncertain significance Single submitter
- MID2 p.Pro40Arg Uncertain significance Single submitter
- MID2 p.Ser133Thr Uncertain significance Single submitter
- MID2 p.Ser134Arg Uncertain significance Single submitter
- MID2 p.Ser84Leu Uncertain significance Single submitter
-
MID2 p.Thr125Ala
Uncertain significance
Single submitter
intellectual disability, X-linked 101
- MID2 p.Thr248Ala Uncertain significance Single submitter
- MID2 p.Val59Ile Uncertain significance Single submitter
- MID2 p.Val8Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All MID2 variants
Benign 1
- p.Ser60= Multiple submitters intellectual disability, X-linked 101
Benign/Likely benign 1
- p.Thr194= Multiple submitters
Likely benign 5
- c.5-16T>C Single submitter
- c.720+13G>C Single submitter
- c.720+16A>G Single submitter
- c.720+17G>A Single submitter
- p.Thr169= Single submitter
Uncertain significance 31
- p.Ala150Ser Multiple submitters intellectual disability, X-linked 101 ⚠
- p.Arg121His Multiple submitters ⚠
- p.Arg164Gly Multiple submitters ⚠
- p.Arg105Pro Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg121Leu Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg164Cys Single submitter ⚠
- p.Arg164His Single submitter intellectual disability, X-linked 101
- p.Arg180His Single submitter
- p.Arg223Cys Single submitter
- p.Arg253Cys Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg56His Single submitter ⚠
- p.Asn204Lys Single submitter ⚠
- p.Asp187Gly Single submitter ⚠
- p.Glu119Gly Single submitter ⚠
- p.Glu256Asp Single submitter ⚠
- p.Ile103Ser Single submitter intellectual disability, X-linked 101 ⚠
- p.Leu232Met Single submitter
- p.Lys263Arg Single submitter ⚠
- p.Pro117Ala Single submitter ⚠
- p.Pro40Arg Single submitter ⚠
- p.Ser133Thr Single submitter ⚠
- p.Ser134Arg Single submitter ⚠
- p.Ser84Leu Single submitter ⚠
- p.Thr125Ala Single submitter intellectual disability, X-linked 101 ⚠
- p.Thr248Ala Single submitter ⚠
- p.Tyr81Asn Single submitter
- p.Val59Ile Single submitter ⚠
- p.Val8Met Single submitter ⚠