MAN1B1 — 565 ClinVar variants

All ClinVar germline MAN1B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 221 flagged for review →

23 Pathogenic · 3 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 46 Conflicting · 44 Benign · 17 Benign/Likely benign · 176 Likely benign · 237 Uncertain significance

Full MAN1B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 221

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 16

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MAN1B1 p.Arg196His Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Arg265His Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Arg334His Conflicting Single submitter
Rafiq syndrome
MAN1B1 p.Arg597Trp Conflicting Single submitter
MAN1B1-related disorder
MAN1B1 p.Arg614His Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Asp674Asn Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Glu397Lys Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Gly581Asp Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.His319Arg Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Ile102Leu Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Lys478Arg Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Phe113Leu Conflicting Single submitter
Rafiq syndrome
MAN1B1 p.Phe659Cys Conflicting Single submitter
MAN1B1-related disorder
MAN1B1 p.Pro236Leu Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Ser519Ile Conflicting Single submitter
Rafiq syndrome
MAN1B1 p.Val212Gly Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 148

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

MAN1B1 p.Ala112Val Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Ala211Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Ala226Val Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Ala294Val Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Arg561Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Arg583Gln Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Arg597Gln Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Arg632Gln Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Asn575Ser Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Cys71Trp Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Gln240Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Glu492Gln Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Glu492Lys Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Glu503Lys Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Glu651Lys Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Gly338Val Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Gly433Trp Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.His245Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.His259Arg Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Ile292Val Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Ile571Met Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Ile86Val Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Met522Thr Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Met563Val Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Phe100Val Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Pro172Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Pro580Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Ser628Ile Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Ser680Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Ser9Thr Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Thr230Ile Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Thr496Met Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Thr664Met Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Val585Met Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Val610Ile Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Ala110Ser Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ala110Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ala112Gly Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ala211Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ala226Gly Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ala294Thr Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ala342Thr Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ala365Thr Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ala420Ser Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ala543Thr Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ala690Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg163Gln Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg163Trp Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg188Ser Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg196Leu Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg224Lys Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg334Leu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Arg406Trp Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg517His Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Arg583Trp Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg629Gln Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg632Trp Uncertain significance Single submitter
MAN1B1 p.Asn327Lys Uncertain significance Single submitter
MAN1B1 p.Asn444Ser Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Asp176Asn Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Asp176His Uncertain significance Single submitter
MAN1B1 p.Asp176Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Asp179Gly Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Asp293Asn Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Asp323Glu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Asp348Tyr Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Asp357Glu Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Asp376His Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Asp486Gly Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Gln182Glu Uncertain significance Single submitter
MAN1B1 p.Gln217Glu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Gln550Glu Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Gln579Lys Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Gln625Arg Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Glu116Gln Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Glu147Gln Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Glu151Asp Uncertain significance Single submitter
MAN1B1 p.Glu214Lys Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Glu220Lys Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Glu273Lys Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Glu485Asp Uncertain significance Single submitter
MAN1B1 p.Glu512Lys Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Gly263Arg Uncertain significance Single submitter
MAN1B1 p.Gly263Glu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Gly286Asp Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Gly288Ser Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Gly337Trp Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.His319Leu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.His497Tyr Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.His515Tyr Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ile161Thr Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ile170Phe Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ile695Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Leu111Val Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Leu289Phe Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Leu340Met Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Leu431Pro Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Leu513Val Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Leu604Arg Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Leu671Phe Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Leu681Arg Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Leu89Phe Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Lys187Asn Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Lys266Met Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Lys312Asn Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Lys317Glu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Lys354Asn Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Lys649Arg Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Met363Ile Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Met441Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Phe257Ser Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Phe574Leu Uncertain significance Single submitter
MAN1B1 p.Phe627Tyr Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Phe672Ser Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Pro130Gln Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Pro137Leu Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Pro150Arg Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Pro197Ala Uncertain significance Single submitter
MAN1B1 p.Pro440Ser Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Pro598Ser Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Pro652Leu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Pro692Ser Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Pro694Ser Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Pro698Ala Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Pro698Leu Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ser315Leu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ser346Thr Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ser375Leu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ser447Asn Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ser464Gly Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ser55Thr Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ser603Asn Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ser673Phe Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Thr144Ala Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Thr144Ile Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Thr332Met Uncertain significance Single submitter
MAN1B1 p.Thr394Ala Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Thr600Asn Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Thr664Lys Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Trp75Arg Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Tyr101Cys Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Tyr465Cys Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Tyr638Cys Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Val205Ala Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Val256Ile Uncertain significance Single submitter
MAN1B1 p.Val324Met Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Val455Ile Uncertain significance Single submitter
MAN1B1 p.Val494Ile Uncertain significance Single submitter
Rafiq syndrome

Predictors split 57

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

MAN1B1 p.Arg196Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Arg614Gly Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Arg83Trp Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Gly302Asp Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Gly477Arg Benign/Likely benign Multiple submitters
Rafiq syndrome
MAN1B1 p.Gly516Ser Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Gly540Ser Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Gly566Arg Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.His429Tyr Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Met546Val Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Phe686Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Pro580Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MAN1B1 p.Tyr343Cys Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Val633Phe Uncertain significance Multiple submitters
Rafiq syndrome
MAN1B1 p.Ala268Ser Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ala462Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ala534Val Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Arg249Cys Uncertain significance Single submitter
MAN1B1 p.Arg249His Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg265Cys Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Arg361Gln Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Arg388Gln Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Arg388Trp Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Arg406Gln Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Arg410Cys Uncertain significance Single submitter
MAN1B1 p.Arg582Cys Conflicting Single submitter
Rafiq syndrome
MAN1B1 p.Arg609Cys Uncertain significance Single submitter
MAN1B1 p.Asn560Lys Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Asp325Asn Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Glu622Lys Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Glu663Lys Conflicting Single submitter
Rafiq syndrome
MAN1B1 p.Gly338Ala Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Gly380Ser Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Gly382Arg Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.His271Arg Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.His429Arg Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.His515Arg Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ile292Met Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ile443Val Conflicting Single submitter
Inborn genetic diseases
MAN1B1 p.Leu78Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Lys371Glu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Met298Val Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Met559Thr Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Pro364His Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Pro386Leu Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Pro694Ala Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Ser331Gly Uncertain significance Single submitter
MAN1B1 p.Ser432Cys Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ser432Phe Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Ser635Leu Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Thr332Ala Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Thr381Ile Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Thr565Met Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Tyr608Phe Uncertain significance Single submitter
Rafiq syndrome
MAN1B1 p.Val398Ala Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Val537Ile Uncertain significance Single submitter
Inborn genetic diseases
MAN1B1 p.Arg561Trp Likely benign No assertion criteria
intellectual disability

All MAN1B1 variants

Pathogenic 23

p.Gln162Ter Multiple submitters Rafiq syndrome
c.1445+2_1445+5del Single submitter Rafiq syndrome
p.Arg406fs Single submitter Rafiq syndrome
p.Arg410fs Single submitter Rafiq syndrome
p.Asp414fs Single submitter Rafiq syndrome
p.Gln426fs Single submitter Rafiq syndrome
p.Gln482Ter Single submitter Rafiq syndrome
p.Gln82Ter Single submitter
p.Glu689Ter Single submitter Rafiq syndrome
p.Gly413_Asp414insTer Single submitter Rafiq syndrome
p.Leu258fs Single submitter Rafiq syndrome
p.Leu339fs Single submitter Rafiq syndrome
p.Leu438fs Single submitter Rafiq syndrome
p.Leu81Ter Single submitter Rafiq syndrome
p.Phe100fs Single submitter
p.Ser393fs Single submitter Rafiq syndrome
p.Trp208Ter Single submitter Rafiq syndrome
p.Trp473Ter Single submitter Rafiq syndrome
p.Tyr465_Tyr466insTer Single submitter Rafiq syndrome
p.Tyr577Ter Single submitter Rafiq syndrome
c.621-2A>G No assertion criteria Rafiq syndrome
p.Ile254fs No assertion criteria Rafiq syndrome
p.Ser409Pro No assertion criteria Rafiq syndrome

Pathogenic/Likely pathogenic 3

p.Arg334Cys Multiple submitters MAN1B1-related disorder
p.Gln579fs Multiple submitters Rafiq syndrome
p.Gly359Ter Multiple submitters Rafiq syndrome

Likely pathogenic 19

p.Ala460_Tyr465delinsSer Multiple submitters Rafiq syndrome
p.Glu689Lys Multiple submitters
c.620+1del Single submitter Inborn genetic diseases
c.730+1G>A Single submitter Rafiq syndrome
c.917-2_921del Single submitter Rafiq syndrome
p.Arg629Ter Single submitter
p.Asp613fs Single submitter Rafiq syndrome
p.Cys527Trp Single submitter
p.Gln240fs Single submitter MAN1B1-related disorder
p.Gln648Ter Single submitter Rafiq syndrome
p.Glu117fs Single submitter Rafiq syndrome
p.Glu602Lys Single submitter
p.His691Arg Single submitter Rafiq syndrome
p.Leu177fs Single submitter Rafiq syndrome
p.Leu458fs Single submitter Rafiq syndrome
p.Lys506Ter Single submitter
p.Trp389Ter Single submitter
p.Gly636fs No assertion criteria Rafiq syndrome
p.Tyr557fs No assertion criteria Rafiq syndrome

Conflicting classifications of pathogenicity 46

c.1065+11T>C Single submitter Rafiq syndrome
c.1255-13C>T Single submitter Rafiq syndrome
c.1764+9G>C Single submitter
c.1765-20G>C Single submitter Rafiq syndrome
c.1765-9C>T Single submitter Rafiq syndrome
c.620+9C>T Single submitter Rafiq syndrome
c.731-8C>T Single submitter Rafiq syndrome
p.Ala226= Single submitter Rafiq syndrome
p.Ala294= Single submitter Rafiq syndrome
p.Arg196His Single submitter Inborn genetic diseases ⚠
p.Arg265His Single submitter Inborn genetic diseases ⚠
p.Arg334His Single submitter Rafiq syndrome ⚠
p.Arg582Cys Single submitter Rafiq syndrome ⚠
p.Arg597Trp Single submitter MAN1B1-related disorder ⚠
p.Arg614His Single submitter Inborn genetic diseases ⚠
p.Asp325= Single submitter Rafiq syndrome
p.Asp674Asn Single submitter Inborn genetic diseases ⚠
p.Glu397Lys Single submitter Inborn genetic diseases ⚠
p.Glu663Lys Single submitter Rafiq syndrome ⚠
p.Gly581Asp Single submitter Inborn genetic diseases ⚠
p.His319Arg Single submitter Inborn genetic diseases ⚠
p.His429= Single submitter Inborn genetic diseases
p.Ile102Leu Single submitter Inborn genetic diseases ⚠
p.Ile213= Single submitter Inborn genetic diseases
p.Ile443Val Single submitter Inborn genetic diseases ⚠
p.Leu693= Single submitter Inborn genetic diseases
p.Lys478Arg Single submitter Inborn genetic diseases ⚠
p.Lys666= Single submitter Rafiq syndrome
p.Phe113Leu Single submitter Rafiq syndrome ⚠
p.Phe659Cys Single submitter MAN1B1-related disorder ⚠
p.Phe660= Single submitter Inborn genetic diseases
p.Phe672= Single submitter Rafiq syndrome
p.Pro236Leu Single submitter Inborn genetic diseases ⚠
p.Pro542= Single submitter Rafiq syndrome
p.Pro650= Single submitter Rafiq syndrome
p.Ser370= Single submitter Rafiq syndrome
p.Ser391= Single submitter Rafiq syndrome
p.Ser519Ile Single submitter Rafiq syndrome ⚠
p.Ser635= Single submitter Inborn genetic diseases
p.Ser658fs Single submitter Rafiq syndrome
p.Thr219= Single submitter Inborn genetic diseases
p.Thr565= Single submitter Rafiq syndrome
p.Thr600= Single submitter Inborn genetic diseases
p.Tyr264= Single submitter Rafiq syndrome
p.Val212Gly Single submitter Inborn genetic diseases ⚠
p.Val256= Single submitter Inborn genetic diseases

Benign 44

c.1254+71G>C Multiple submitters
c.1255-230C>T Multiple submitters
c.1255-5C>T Multiple submitters Inborn genetic diseases
c.1445+105G>A Multiple submitters
c.1446-49G>A Multiple submitters
c.1567-126C>T Multiple submitters
c.1765-5C>A Multiple submitters Inborn genetic diseases
c.1896+106A>G Multiple submitters
c.1896+147A>G Multiple submitters
c.1896+229C>A Multiple submitters
c.1896+22G>A Multiple submitters
c.1896+65G>A Multiple submitters
c.1896+73C>T Multiple submitters
c.1896+7A>G Multiple submitters Rafiq syndrome
c.1897-12G>A Multiple submitters Rafiq syndrome
c.1897-273C>A Multiple submitters
c.1897-86C>T Multiple submitters
c.328+233C>T Multiple submitters
c.465+170T>C Multiple submitters
c.620+63T>C Multiple submitters
c.730+90G>C Multiple submitters
c.731-46G>A Multiple submitters
c.*157C>G Multiple submitters Rafiq syndrome
c.*384A>G Multiple submitters Rafiq syndrome
p.Arg410His Multiple submitters Inborn genetic diseases
p.Asp682= Multiple submitters Inborn genetic diseases
p.Glu116Gly Multiple submitters Inborn genetic diseases
p.Lys615= Multiple submitters Inborn genetic diseases
p.Pro197Leu Multiple submitters Inborn genetic diseases
p.Pro652= Multiple submitters Inborn genetic diseases
p.Val587= Multiple submitters Inborn genetic diseases
c.1254+256_1254+259del Single submitter
c.1255-13del Single submitter Rafiq syndrome
c.1255-6C>T Single submitter
c.1566+68T>C Single submitter
c.1566+81_1566+83dup Single submitter
c.1567-18G>A Single submitter Rafiq syndrome
c.1765-17C>T Single submitter Rafiq syndrome
c.1896+230C>T Single submitter
c.1896+31C>T Single submitter
c.220-20A>C Single submitter Rafiq syndrome
c.620+10G>A Single submitter Rafiq syndrome
c.917-229T>C Single submitter
c.917-95dup Single submitter

Benign/Likely benign 17

c.1065+16T>A Multiple submitters Rafiq syndrome
c.1445+19C>T Multiple submitters Rafiq syndrome
c.1566+14C>T Multiple submitters Rafiq syndrome
p.Ala462= Multiple submitters Inborn genetic diseases
p.Arg495= Multiple submitters Inborn genetic diseases
p.Arg500Gln Multiple submitters Inborn genetic diseases
p.Glu570= Multiple submitters Rafiq syndrome
p.Gly382= Multiple submitters Inborn genetic diseases
p.Gly477Arg Multiple submitters Rafiq syndrome ⚠
p.Ile571= Multiple submitters Inborn genetic diseases
p.Leu287= Multiple submitters Inborn genetic diseases
p.Pro201Leu Multiple submitters Inborn genetic diseases
p.Ser153= Multiple submitters Inborn genetic diseases
p.Tyr248= Multiple submitters Inborn genetic diseases
p.Tyr684= Multiple submitters Inborn genetic diseases
p.Val135Ile Multiple submitters Inborn genetic diseases
p.Val644= Multiple submitters Inborn genetic diseases

Likely benign 176

c.1445+10G>A Multiple submitters Rafiq syndrome
c.1566+15G>A Multiple submitters Rafiq syndrome
c.621-5C>T Multiple submitters Rafiq syndrome
c.731-49G>A Multiple submitters
c.731-6del Multiple submitters Rafiq syndrome
c.916+78G>A Multiple submitters
p.Ala365= Multiple submitters Inborn genetic diseases
p.Ala91Val Multiple submitters Rafiq syndrome
p.Arg609= Multiple submitters Rafiq syndrome
p.Gln558= Multiple submitters Inborn genetic diseases
p.Glu651= Multiple submitters Inborn genetic diseases
p.Gly252= Multiple submitters Inborn genetic diseases
p.Gly433= Multiple submitters Rafiq syndrome
p.Ile428= Multiple submitters Rafiq syndrome
p.Leu535= Multiple submitters Inborn genetic diseases
p.Ser375= Multiple submitters Rafiq syndrome
p.Thr239= Multiple submitters Inborn genetic diseases
p.Thr457= Multiple submitters Rafiq syndrome
p.Thr532= Multiple submitters Rafiq syndrome
p.Thr697= Multiple submitters Rafiq syndrome
c.1066-10C>T Single submitter Rafiq syndrome
c.1066-15C>G Single submitter Rafiq syndrome
c.1066-18A>G Single submitter Rafiq syndrome
c.1066-18A>T Single submitter Rafiq syndrome
c.1066-20C>G Single submitter Rafiq syndrome
c.1254+13G>C Single submitter Rafiq syndrome
c.1254+14C>T Single submitter Rafiq syndrome
c.1254+15T>C Single submitter Rafiq syndrome
c.1254+2089_1254+2090del Single submitter
c.1254+800_1254+803del Single submitter
c.1254+9G>A Single submitter Rafiq syndrome
c.1255-10T>G Single submitter Rafiq syndrome
c.1255-13C>G Single submitter Rafiq syndrome
c.1255-17C>T Single submitter Rafiq syndrome
c.1255-4G>A Single submitter Rafiq syndrome
c.1255-9C>T Single submitter Rafiq syndrome
c.1445+15G>A Single submitter Rafiq syndrome
c.1445+31_1445+79dup Single submitter Rafiq syndrome
c.1445+9C>T Single submitter Rafiq syndrome
c.1446-10G>C Single submitter Rafiq syndrome
c.1446-19T>C Single submitter Rafiq syndrome
c.1446-4A>G Single submitter Rafiq syndrome
c.1446-8G>C Single submitter Rafiq syndrome
c.1566+11C>G Single submitter Rafiq syndrome
c.1566+12T>C Single submitter Rafiq syndrome
c.1566+14C>A Single submitter Rafiq syndrome
c.1566+15G>C Single submitter Rafiq syndrome
c.1566+17G>T Single submitter Rafiq syndrome
c.1566+20C>T Single submitter Rafiq syndrome
c.1566+33C>T Single submitter
c.1567-13C>T Single submitter Rafiq syndrome
c.1567-14C>T Single submitter Rafiq syndrome
c.1567-16G>A Single submitter Rafiq syndrome
c.1764+14T>C Single submitter Rafiq syndrome
c.1764+15G>A Single submitter Rafiq syndrome
c.1764+17G>A Single submitter Rafiq syndrome
c.1764+2TGGGCC[3] Single submitter Rafiq syndrome
c.1896+16C>T Single submitter Rafiq syndrome
c.1896+17G>C Single submitter Rafiq syndrome
c.1896+71G>A Single submitter
c.1896+8C>T Single submitter Rafiq syndrome
c.1896+9C>T Single submitter Rafiq syndrome
c.1897-10T>C Single submitter Rafiq syndrome
c.1897-5C>A Single submitter Rafiq syndrome
c.220-10C>T Single submitter Rafiq syndrome
c.220-322C>T Single submitter
c.220-7C>G Single submitter Rafiq syndrome
c.220-9C>T Single submitter Rafiq syndrome
c.329-14C>T Single submitter Rafiq syndrome
c.466-13A>G Single submitter Rafiq syndrome
c.466-14C>T Single submitter Rafiq syndrome
c.620+10G>T Single submitter Rafiq syndrome
c.620+12A>G Single submitter Rafiq syndrome
c.620+20C>G Single submitter Rafiq syndrome
c.621-14C>T Single submitter Rafiq syndrome
c.621-4G>A Single submitter Rafiq syndrome
c.621-4G>T Single submitter Rafiq syndrome
c.730+10C>T Single submitter Rafiq syndrome
c.730+13C>G Single submitter Rafiq syndrome
c.730+15G>A Single submitter Rafiq syndrome
c.730+16C>T Single submitter Rafiq syndrome
c.730+8C>T Single submitter Rafiq syndrome
c.731-16C>T Single submitter Rafiq syndrome
c.731-17T>C Single submitter Rafiq syndrome
c.731-18CT[2] Single submitter Rafiq syndrome
c.731-4C>T Single submitter Rafiq syndrome
c.731-8C>A Single submitter Rafiq syndrome
c.731-9C>G Single submitter Rafiq syndrome
c.916+10G>A Single submitter Rafiq syndrome
c.916+14T>C Single submitter Rafiq syndrome
c.*223G>A Single submitter Rafiq syndrome
c.*258C>A Single submitter
c.*292G>A Single submitter Rafiq syndrome
c.*393A>G Single submitter Rafiq syndrome
p.Ala112= Single submitter Rafiq syndrome
p.Ala142= Single submitter Rafiq syndrome
p.Ala211= Single submitter Rafiq syndrome
p.Ala237= Single submitter Rafiq syndrome
p.Ala3= Single submitter Rafiq syndrome
p.Ala420= Single submitter Rafiq syndrome
p.Ala514= Single submitter Rafiq syndrome
p.Arg188= Single submitter Rafiq syndrome
p.Asn643= Single submitter Rafiq syndrome
p.Asp255= Single submitter Rafiq syndrome
p.Asp272= Single submitter Rafiq syndrome
p.Asp293= Single submitter Rafiq syndrome
p.Asp323= Single submitter Rafiq syndrome
p.Asp348= Single submitter Inborn genetic diseases
p.Asp618= Single submitter
p.Gln175= Single submitter Rafiq syndrome
p.Gln426Arg Single submitter Inborn genetic diseases
p.Gln77= Single submitter Rafiq syndrome
p.Gly180= Single submitter Rafiq syndrome
p.Gly210= Single submitter
p.Gly286= Single submitter Rafiq syndrome
p.Gly302= Single submitter Rafiq syndrome
p.Gly337= Single submitter Rafiq syndrome
p.Gly430Ser Single submitter Inborn genetic diseases
p.Gly448= Single submitter Rafiq syndrome
p.Gly454= Single submitter Rafiq syndrome
p.Gly459= Single submitter Rafiq syndrome
p.Gly536= Single submitter Rafiq syndrome
p.His160Arg Single submitter Inborn genetic diseases
p.His385= Single submitter Rafiq syndrome
p.His539= Single submitter Rafiq syndrome
p.Ile125= Single submitter Rafiq syndrome
p.Ile292= Single submitter
p.Ile379= Single submitter Rafiq syndrome
p.Leu336= Single submitter
p.Leu339= Single submitter Inborn genetic diseases
p.Leu340= Single submitter Rafiq syndrome
p.Leu350= Single submitter Rafiq syndrome
p.Leu352= Single submitter Inborn genetic diseases
p.Leu362= Single submitter Rafiq syndrome
p.Leu438= Single submitter Rafiq syndrome
p.Leu449= Single submitter Rafiq syndrome
p.Leu541= Single submitter Rafiq syndrome
p.Leu668= Single submitter Rafiq syndrome
p.Leu681= Single submitter Rafiq syndrome
p.Lys231= Single submitter Rafiq syndrome
p.Lys316= Single submitter
p.Lys322= Single submitter Rafiq syndrome
p.Lys655= Single submitter Rafiq syndrome
p.Lys76= Single submitter Rafiq syndrome
p.Phe88= Single submitter Rafiq syndrome
p.Phe95= Single submitter Rafiq syndrome
p.Pro134= Single submitter Rafiq syndrome
p.Pro192= Single submitter Rafiq syndrome
p.Pro215= Single submitter Rafiq syndrome
p.Pro233= Single submitter Rafiq syndrome
p.Pro235= Single submitter Rafiq syndrome
p.Pro236= Single submitter Rafiq syndrome
p.Pro504= Single submitter
p.Pro569= Single submitter Inborn genetic diseases
p.Pro580= Single submitter Rafiq syndrome
p.Pro698= Single submitter Rafiq syndrome
p.Ser153Leu Single submitter Inborn genetic diseases
p.Ser174= Single submitter Rafiq syndrome
p.Ser673= Single submitter Rafiq syndrome
p.Thr332= Single submitter Rafiq syndrome
p.Thr390= Single submitter Rafiq syndrome
p.Thr412= Single submitter Rafiq syndrome
p.Thr451= Single submitter Rafiq syndrome
p.Thr481= Single submitter Rafiq syndrome
p.Thr496= Single submitter Rafiq syndrome
p.Thr664= Single submitter Rafiq syndrome
p.Tyr101= Single submitter Rafiq syndrome
p.Tyr343= Single submitter Rafiq syndrome
p.Tyr487= Single submitter Rafiq syndrome
p.Val256Ala Single submitter Inborn genetic diseases
p.Val398= Single submitter Rafiq syndrome
p.Val488Met Single submitter Rafiq syndrome
c.1255-4G>T No assertion criteria MAN1B1-related disorder
p.Arg561Trp No assertion criteria intellectual disability ⚠
p.Leu258= No assertion criteria MAN1B1-related disorder
p.Trp313Ter No assertion criteria intellectual disability

Uncertain significance 237

c.*404T>C Multiple submitters Rafiq syndrome
p.Ala112Val Multiple submitters Rafiq syndrome ⚠
p.Ala211Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala226Val Multiple submitters Inborn genetic diseases ⚠
p.Ala294Val Multiple submitters Inborn genetic diseases ⚠
p.Arg196Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg561Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg583Gln Multiple submitters Rafiq syndrome ⚠
p.Arg597Gln Multiple submitters Rafiq syndrome ⚠
p.Arg614Gly Multiple submitters Rafiq syndrome ⚠
p.Arg632Gln Multiple submitters Rafiq syndrome ⚠
p.Arg83Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn575Ser Multiple submitters Rafiq syndrome ⚠
p.Asp436His Multiple submitters Rafiq syndrome
p.Cys71Trp Multiple submitters Inborn genetic diseases ⚠
p.Gln240Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu492Gln Multiple submitters Rafiq syndrome ⚠
p.Glu492Lys Multiple submitters Rafiq syndrome ⚠
p.Glu503Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu651Lys Multiple submitters Rafiq syndrome ⚠
p.Gly302Asp Multiple submitters Rafiq syndrome ⚠
p.Gly338Val Multiple submitters Rafiq syndrome ⚠
p.Gly433Glu Multiple submitters Rafiq syndrome
p.Gly433Trp Multiple submitters Rafiq syndrome ⚠
p.Gly476= Multiple submitters Rafiq syndrome
p.Gly516Ser Multiple submitters Rafiq syndrome ⚠
p.Gly540Ser Multiple submitters Rafiq syndrome ⚠
p.Gly566Arg Multiple submitters Rafiq syndrome ⚠
p.His245Arg Multiple submitters Inborn genetic diseases ⚠
p.His259Arg Multiple submitters Rafiq syndrome ⚠
p.His429Tyr Multiple submitters Rafiq syndrome ⚠
p.Ile292Val Multiple submitters Rafiq syndrome ⚠
p.Ile571Met Multiple submitters Inborn genetic diseases ⚠
p.Ile86Val Multiple submitters Inborn genetic diseases ⚠
p.Met522Thr Multiple submitters Rafiq syndrome ⚠
p.Met546Val Multiple submitters Inborn genetic diseases ⚠
p.Met563Val Multiple submitters Inborn genetic diseases ⚠
p.Phe100Val Multiple submitters Rafiq syndrome ⚠
p.Phe686Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro172Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro580Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro580Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser628Ile Multiple submitters Rafiq syndrome ⚠
p.Ser680Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser9Thr Multiple submitters Rafiq syndrome ⚠
p.Thr230Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr496Met Multiple submitters Inborn genetic diseases ⚠
p.Thr664Met Multiple submitters Rafiq syndrome ⚠
p.Tyr343Cys Multiple submitters Rafiq syndrome ⚠
p.Val585Met Multiple submitters Rafiq syndrome ⚠
p.Val610Ile Multiple submitters Rafiq syndrome ⚠
p.Val633Phe Multiple submitters Rafiq syndrome ⚠
c.1445+6G>T Single submitter Rafiq syndrome
c.1446-5C>T Single submitter Inborn genetic diseases
c.1566+3dup Single submitter
c.329-9G>C Single submitter Rafiq syndrome
c.466-12A>G Single submitter Rafiq syndrome
c.466-4A>G Single submitter
c.730+5G>A Single submitter Rafiq syndrome
c.730+5G>C Single submitter Inborn genetic diseases
c.*113G>A Single submitter Rafiq syndrome
c.*185T>G Single submitter Rafiq syndrome
c.*191G>A Single submitter Rafiq syndrome
c.*258C>T Single submitter Rafiq syndrome
c.*259G>A Single submitter Rafiq syndrome
c.*389C>G Single submitter Rafiq syndrome
c.*470C>T Single submitter Rafiq syndrome
c.*489G>A Single submitter Rafiq syndrome
c.*498G>C Single submitter Rafiq syndrome
c.*553A>G Single submitter Rafiq syndrome
c.*587C>G Single submitter Rafiq syndrome
c.*62A>G Single submitter Rafiq syndrome
c.*86C>T Single submitter Rafiq syndrome
p.Ala110Ser Single submitter Inborn genetic diseases ⚠
p.Ala110Val Single submitter Rafiq syndrome ⚠
p.Ala112Gly Single submitter Inborn genetic diseases ⚠
p.Ala211Val Single submitter Rafiq syndrome ⚠
p.Ala226Gly Single submitter Rafiq syndrome ⚠
p.Ala260= Single submitter Rafiq syndrome
p.Ala268Ser Single submitter Inborn genetic diseases ⚠
p.Ala294Thr Single submitter Rafiq syndrome ⚠
p.Ala342Thr Single submitter Rafiq syndrome ⚠
p.Ala365Thr Single submitter Inborn genetic diseases ⚠
p.Ala420Ser Single submitter Inborn genetic diseases ⚠
p.Ala462Val Single submitter Rafiq syndrome ⚠
p.Ala534Val Single submitter Inborn genetic diseases ⚠
p.Ala543Thr Single submitter Inborn genetic diseases ⚠
p.Ala683Thr Single submitter Rafiq syndrome
p.Ala690Val Single submitter Rafiq syndrome ⚠
p.Arg163Gln Single submitter Rafiq syndrome ⚠
p.Arg163Trp Single submitter Rafiq syndrome ⚠
p.Arg188Ser Single submitter Rafiq syndrome ⚠
p.Arg196Leu Single submitter Rafiq syndrome ⚠
p.Arg224Lys Single submitter Rafiq syndrome ⚠
p.Arg249Cys Single submitter ⚠
p.Arg249His Single submitter Rafiq syndrome ⚠
p.Arg265Cys Single submitter Inborn genetic diseases ⚠
p.Arg334Leu Single submitter Inborn genetic diseases ⚠
p.Arg361Gln Single submitter Inborn genetic diseases ⚠
p.Arg388Gln Single submitter Inborn genetic diseases ⚠
p.Arg388Trp Single submitter Inborn genetic diseases ⚠
p.Arg406Gln Single submitter Rafiq syndrome ⚠
p.Arg406Trp Single submitter Rafiq syndrome ⚠
p.Arg410Cys Single submitter ⚠
p.Arg517His Single submitter Inborn genetic diseases ⚠
p.Arg583Trp Single submitter Rafiq syndrome ⚠
p.Arg609Cys Single submitter ⚠
p.Arg629Gln Single submitter Rafiq syndrome ⚠
p.Arg632Trp Single submitter ⚠
p.Asn327Lys Single submitter ⚠
p.Asn444Ser Single submitter Rafiq syndrome ⚠
p.Asn560Lys Single submitter Rafiq syndrome ⚠
p.Asp176Asn Single submitter Rafiq syndrome ⚠
p.Asp176His Single submitter ⚠
p.Asp176Val Single submitter Rafiq syndrome ⚠
p.Asp179Gly Single submitter Rafiq syndrome ⚠
p.Asp293Asn Single submitter Inborn genetic diseases ⚠
p.Asp323Glu Single submitter Inborn genetic diseases ⚠
p.Asp325Asn Single submitter Rafiq syndrome ⚠
p.Asp348Tyr Single submitter Rafiq syndrome ⚠
p.Asp357Glu Single submitter Rafiq syndrome ⚠
p.Asp376His Single submitter Inborn genetic diseases ⚠
p.Asp486Gly Single submitter Rafiq syndrome ⚠
p.Gln182Glu Single submitter ⚠
p.Gln217Glu Single submitter Inborn genetic diseases ⚠
p.Gln550Glu Single submitter Rafiq syndrome ⚠
p.Gln579Lys Single submitter Rafiq syndrome ⚠
p.Gln625Arg Single submitter Inborn genetic diseases ⚠
p.Gln645Pro Single submitter Inborn genetic diseases
p.Glu116Gln Single submitter Inborn genetic diseases ⚠
p.Glu147= Single submitter Rafiq syndrome
p.Glu147Gln Single submitter Rafiq syndrome ⚠
p.Glu151Asp Single submitter ⚠
p.Glu214Lys Single submitter Inborn genetic diseases ⚠
p.Glu220Lys Single submitter Inborn genetic diseases ⚠
p.Glu273Lys Single submitter Rafiq syndrome ⚠
p.Glu485Asp Single submitter ⚠
p.Glu512Lys Single submitter Inborn genetic diseases ⚠
p.Glu622Lys Single submitter Inborn genetic diseases ⚠
p.Gly263Arg Single submitter ⚠
p.Gly263Glu Single submitter Inborn genetic diseases ⚠
p.Gly286Asp Single submitter Inborn genetic diseases ⚠
p.Gly288Ser Single submitter Rafiq syndrome ⚠
p.Gly337Trp Single submitter Rafiq syndrome ⚠
p.Gly338Ala Single submitter Rafiq syndrome ⚠
p.Gly380Ser Single submitter Inborn genetic diseases ⚠
p.Gly382Arg Single submitter Inborn genetic diseases ⚠
p.His271Arg Single submitter Inborn genetic diseases ⚠
p.His319Leu Single submitter Inborn genetic diseases ⚠
p.His429Arg Single submitter Inborn genetic diseases ⚠
p.His497Tyr Single submitter Rafiq syndrome ⚠
p.His515Arg Single submitter Inborn genetic diseases ⚠
p.His515Tyr Single submitter Inborn genetic diseases ⚠
p.His545Asn Single submitter Rafiq syndrome
p.Ile161Thr Single submitter Rafiq syndrome ⚠
p.Ile170Phe Single submitter Inborn genetic diseases ⚠
p.Ile292Met Single submitter Inborn genetic diseases ⚠
p.Ile695Val Single submitter Rafiq syndrome ⚠
p.Leu111Val Single submitter Inborn genetic diseases ⚠
p.Leu289Phe Single submitter Rafiq syndrome ⚠
p.Leu340Met Single submitter Inborn genetic diseases ⚠
p.Leu431Pro Single submitter Rafiq syndrome ⚠
p.Leu484_Glu485insLeu Single submitter Rafiq syndrome
p.Leu498= Single submitter Rafiq syndrome
p.Leu499del Single submitter
p.Leu513Val Single submitter Inborn genetic diseases ⚠
p.Leu604Arg Single submitter Rafiq syndrome ⚠
p.Leu671Phe Single submitter Rafiq syndrome ⚠
p.Leu681Arg Single submitter Inborn genetic diseases ⚠
p.Leu78Val Single submitter Rafiq syndrome ⚠
p.Leu89Phe Single submitter Inborn genetic diseases ⚠
p.Lys187Asn Single submitter Rafiq syndrome ⚠
p.Lys266Met Single submitter Inborn genetic diseases ⚠
p.Lys312Asn Single submitter Rafiq syndrome ⚠
p.Lys317Glu Single submitter Inborn genetic diseases ⚠
p.Lys354Asn Single submitter Rafiq syndrome ⚠
p.Lys371Glu Single submitter Inborn genetic diseases ⚠
p.Lys649Arg Single submitter Rafiq syndrome ⚠
p.Met298Val Single submitter Rafiq syndrome ⚠
p.Met363Ile Single submitter Inborn genetic diseases ⚠
p.Met441Val Single submitter Rafiq syndrome ⚠
p.Met559Thr Single submitter Rafiq syndrome ⚠
p.Phe257Ser Single submitter Rafiq syndrome ⚠
p.Phe574Leu Single submitter ⚠
p.Phe627= Single submitter Rafiq syndrome
p.Phe627Tyr Single submitter Inborn genetic diseases ⚠
p.Phe672Ser Single submitter Inborn genetic diseases ⚠
p.Pro130Gln Single submitter Rafiq syndrome ⚠
p.Pro137Leu Single submitter Rafiq syndrome ⚠
p.Pro150Arg Single submitter Inborn genetic diseases ⚠
p.Pro197Ala Single submitter ⚠
p.Pro201= Single submitter Rafiq syndrome
p.Pro364His Single submitter Rafiq syndrome ⚠
p.Pro386Leu Single submitter Rafiq syndrome ⚠
p.Pro440Ser Single submitter Inborn genetic diseases ⚠
p.Pro598Ser Single submitter Rafiq syndrome ⚠
p.Pro652Leu Single submitter Inborn genetic diseases ⚠
p.Pro692Ser Single submitter Inborn genetic diseases ⚠
p.Pro694Ala Single submitter Rafiq syndrome ⚠
p.Pro694Ser Single submitter Inborn genetic diseases ⚠
p.Pro698Ala Single submitter Inborn genetic diseases ⚠
p.Pro698Leu Single submitter Rafiq syndrome ⚠
p.Ser315Leu Single submitter Inborn genetic diseases ⚠
p.Ser331Gly Single submitter ⚠
p.Ser346Thr Single submitter Inborn genetic diseases ⚠
p.Ser375Leu Single submitter Inborn genetic diseases ⚠
p.Ser432Cys Single submitter Inborn genetic diseases ⚠
p.Ser432Phe Single submitter Inborn genetic diseases ⚠
p.Ser447Asn Single submitter Inborn genetic diseases ⚠
p.Ser464Gly Single submitter Inborn genetic diseases ⚠
p.Ser55Thr Single submitter Rafiq syndrome ⚠
p.Ser603Asn Single submitter Rafiq syndrome ⚠
p.Ser635Leu Single submitter Inborn genetic diseases ⚠
p.Ser673Phe Single submitter Inborn genetic diseases ⚠
p.Thr144Ala Single submitter Rafiq syndrome ⚠
p.Thr144Ile Single submitter Rafiq syndrome ⚠
p.Thr332Ala Single submitter Rafiq syndrome ⚠
p.Thr332Met Single submitter ⚠
p.Thr381Ile Single submitter Inborn genetic diseases ⚠
p.Thr394Ala Single submitter Rafiq syndrome ⚠
p.Thr565Met Single submitter Inborn genetic diseases ⚠
p.Thr600Asn Single submitter Inborn genetic diseases ⚠
p.Thr664Lys Single submitter Inborn genetic diseases ⚠
p.Thr688= Single submitter Rafiq syndrome
p.Trp75Arg Single submitter Rafiq syndrome ⚠
p.Tyr101Cys Single submitter Rafiq syndrome ⚠
p.Tyr465Cys Single submitter Inborn genetic diseases ⚠
p.Tyr608Phe Single submitter Rafiq syndrome ⚠
p.Tyr638Cys Single submitter Rafiq syndrome ⚠
p.Val205Ala Single submitter Inborn genetic diseases ⚠
p.Val253Met Single submitter Rafiq syndrome
p.Val256Ile Single submitter ⚠
p.Val324Met Single submitter Rafiq syndrome ⚠
p.Val398Ala Single submitter Inborn genetic diseases ⚠
p.Val455Ile Single submitter ⚠
p.Val494Ile Single submitter Rafiq syndrome ⚠
p.Val537Ile Single submitter Inborn genetic diseases ⚠