MID1 — 412 ClinVar variants
All ClinVar germline MID1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →
35 Pathogenic · 1 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 18 Conflicting · 52 Benign · 21 Benign/Likely benign · 131 Likely benign · 130 Uncertain significance
Full MID1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 130
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- MID1 p.Ala260Thr Conflicting Single submitter
-
MID1 p.Arg257Cys
Conflicting
Single submitter
Inborn genetic diseases
-
MID1 p.Arg257Ser
Conflicting
Single submitter
X-linked Opitz G/BBB syndrome
-
MID1 p.Arg472His
Conflicting
Single submitter
Inborn genetic diseases
-
MID1 p.Arg495Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MID1 p.Asn95Ser
Conflicting
Single submitter
Inborn genetic diseases
-
MID1 p.Met462Ile
Conflicting
Single submitter
Inborn genetic diseases
-
MID1 p.Ser433Leu
Conflicting
Single submitter
X-linked Opitz G/BBB syndrome
-
MID1 p.Val427Ile
Conflicting
Single submitter
X-linked Opitz G/BBB syndrome
- MID1 p.Val77Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MID1 p.Ala114Thr
Uncertain significance
Multiple submitters
X-linked Opitz G/BBB syndrome
-
MID1 p.Ala211Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MID1 p.Ala316Glu Uncertain significance Multiple submitters
-
MID1 p.Arg472Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MID1 p.Arg68Gln Uncertain significance Multiple submitters
-
MID1 p.Asp180Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MID1 p.Gly529Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MID1 p.His159Arg
Uncertain significance
Multiple submitters
X-linked Opitz G/BBB syndrome
-
MID1 p.Ile555Val
Uncertain significance
Multiple submitters
X-linked Opitz G/BBB syndrome
-
MID1 p.Lys560Arg
Uncertain significance
Multiple submitters
X-linked Opitz G/BBB syndrome
-
MID1 p.Ser225Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MID1 p.Val201Ile
Uncertain significance
Multiple submitters
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
- MID1 p.Val428Ile Uncertain significance Multiple submitters
- MID1 p.Ala114Ser Uncertain significance Single submitter
-
MID1 p.Ala326Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MID1 p.Ala34Asp
Uncertain significance
Single submitter
MID1-related disorder
- MID1 p.Ala363Thr Uncertain significance Single submitter
- MID1 p.Ala465Val Uncertain significance Single submitter
-
MID1 p.Arg102Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Arg203Gln Uncertain significance Single submitter
- MID1 p.Arg205Cys Uncertain significance Single submitter
-
MID1 p.Arg257His
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Arg308Trp Uncertain significance Single submitter
-
MID1 p.Arg327Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Arg338Gly Uncertain significance Single submitter
- MID1 p.Arg521His Uncertain significance Single submitter
-
MID1 p.Arg521Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MID1 p.Arg540Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Asn109Asp Uncertain significance Single submitter
- MID1 p.Asn226Ile Uncertain significance Single submitter
- MID1 p.Asn254Ser Uncertain significance Single submitter
-
MID1 p.Asn533Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MID1 p.Asp191Asn
Uncertain significance
Single submitter
MID1-related disorder
- MID1 p.Asp267Asn Uncertain significance Single submitter
- MID1 p.Asp406Asn Uncertain significance Single submitter
- MID1 p.Gln124Glu Uncertain significance Single submitter
-
MID1 p.Glu179Lys
Uncertain significance
Single submitter
X-linked Opitz G/BBB syndrome
-
MID1 p.Glu264Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Glu475Asp Uncertain significance Single submitter
- MID1 p.Gly423Ala Uncertain significance Single submitter
- MID1 p.Gly72Arg Uncertain significance Single submitter
- MID1 p.His150Tyr Uncertain significance Single submitter
-
MID1 p.His169Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.His250Tyr Uncertain significance Single submitter
- MID1 p.His27Asp Uncertain significance Single submitter
- MID1 p.His41Gln Uncertain significance Single submitter
- MID1 p.Ile12Val Uncertain significance Single submitter
- MID1 p.Ile162Thr Uncertain significance Single submitter
-
MID1 p.Ile231Met
Uncertain significance
Single submitter
X-linked Opitz G/BBB syndrome
- MID1 p.Ile270Thr Uncertain significance Single submitter
- MID1 p.Ile51Val Uncertain significance Single submitter
- MID1 p.Leu230Arg Uncertain significance Single submitter
- MID1 p.Leu497Arg Uncertain significance Single submitter
-
MID1 p.Lys261Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Lys491Arg Uncertain significance Single submitter
-
MID1 p.Lys514Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Met290Ile Uncertain significance Single submitter
- MID1 p.Phe486Cys Uncertain significance Single submitter
- MID1 p.Pro151Leu Uncertain significance Single submitter
- MID1 p.Pro166Leu Uncertain significance Single submitter
-
MID1 p.Ser436Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Ser492Pro Uncertain significance Single submitter
- MID1 p.Ser513Pro Uncertain significance Single submitter
- MID1 p.Thr110Ile Uncertain significance Single submitter
-
MID1 p.Thr157Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Thr331Ser Uncertain significance Single submitter
- MID1 p.Thr361Ile Uncertain significance Single submitter
- MID1 p.Thr398Ser Uncertain significance Single submitter
- MID1 p.Thr44Ile Uncertain significance Single submitter
- MID1 p.Thr457Ile Uncertain significance Single submitter
- MID1 p.Thr518Ile Uncertain significance Single submitter
-
MID1 p.Tyr186Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Val253Ile Uncertain significance Single submitter
-
MID1 p.Val499Met
Uncertain significance
Single submitter
X-linked Opitz G/BBB syndrome
-
MID1 p.Leu292Pro
Uncertain significance
No assertion criteria
MID1-related disorder
Predictors split 45
The independent predictors disagree with each other — read with care.
-
MID1 p.Arg291Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MID1 p.Arg36His
Uncertain significance
Multiple submitters
X-linked Opitz G/BBB syndrome
-
MID1 p.Asn234Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MID1 p.Gly93Arg
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
MID1 p.Thr393Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MID1 p.Ala26Thr Uncertain significance Single submitter
- MID1 p.Ala34Thr Benign Single submitter
- MID1 p.Arg36Cys Uncertain significance Single submitter
-
MID1 p.Arg508His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MID1 p.Arg85Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Asn184Lys Uncertain significance Single submitter
- MID1 p.Asn184Ser Uncertain significance Single submitter
- MID1 p.Asn234Ser Uncertain significance Single submitter
-
MID1 p.Asn354Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Asn446Ile Uncertain significance Single submitter
- MID1 p.Asp537Asn Uncertain significance Single submitter
-
MID1 p.Asp84Asn
Conflicting
Single submitter
History of neurodevelopmental disorder
-
MID1 p.Gln454Arg
Conflicting
Single submitter
Inborn genetic diseases
- MID1 p.Glu15Ala Uncertain significance Single submitter
-
MID1 p.Glu337Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MID1 p.Glu5Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Gly452Ser Pathogenic Single submitter
- MID1 p.Gly539Asp Uncertain significance Single submitter
- MID1 p.His325Asp Uncertain significance Single submitter
- MID1 p.Ile245Thr Uncertain significance Single submitter
-
MID1 p.Ile37Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Leu227Phe Benign Single submitter
- MID1 p.Leu292Phe Uncertain significance Single submitter
- MID1 p.Leu504Phe Uncertain significance Single submitter
-
MID1 p.Lys283Asn
Uncertain significance
Single submitter
X-linked Opitz G/BBB syndrome
- MID1 p.Lys288Glu Uncertain significance Single submitter
-
MID1 p.Lys491Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MID1 p.Lys515Glu
Uncertain significance
Single submitter
X-linked Opitz G/BBB syndrome
- MID1 p.Phe535Leu Uncertain significance Single submitter
-
MID1 p.Pro385Ala
Conflicting
Single submitter
Inborn genetic diseases
-
MID1 p.Ser346Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Ser346Pro Uncertain significance Single submitter
-
MID1 p.Ser550Asn
Uncertain significance
Single submitter
X-linked Opitz G/BBB syndrome
- MID1 p.Ser92Asn Uncertain significance Single submitter
- MID1 p.Thr149Ser Uncertain significance Single submitter
- MID1 p.Thr449Met Benign Single submitter
- MID1 p.Thr518Arg Uncertain significance Single submitter
-
MID1 p.Tyr448His
Likely pathogenic
Single submitter
Inborn genetic diseases
-
MID1 p.Val411Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MID1 p.Gly477Arg Uncertain significance No assertion criteria
All MID1 variants
Pathogenic 35
- p.Arg277Ter Multiple submitters X-linked Opitz G/BBB syndrome
- p.Arg368Ter Multiple submitters X-linked Opitz G/BBB syndrome
- p.Arg495Ter Multiple submitters X-linked Opitz G/BBB syndrome
- p.His600fs Multiple submitters X-linked Opitz G/BBB syndrome
- p.Ser483fs Multiple submitters X-linked Opitz G/BBB syndrome
- c.1141+1G>A Single submitter X-linked Opitz G/BBB syndrome
- c.1141+2T>C Single submitter
- c.756+5G>A Single submitter
- c.757-1G>C Single submitter X-linked Opitz G/BBB syndrome
- c.865-2A>G Single submitter
- p.Ala465Pro Single submitter X-linked Opitz G/BBB syndrome
- p.Arg327fs Single submitter
- p.Arg540fs Single submitter
- p.Arg68Ter Single submitter
- p.Gln208Ter Single submitter
- p.Gln424Ter Single submitter
- p.Glu214fs Single submitter
- p.Glu224_Ser225insTer Single submitter X-linked Opitz G/BBB syndrome
- p.Glu224fs Single submitter
- p.Glu317fs Single submitter
- p.Glu408Ter Single submitter Inborn genetic diseases
- p.Gly452Ser Single submitter ⚠
- p.Lys261fs Single submitter
- p.Lys261Ter Single submitter
- p.Ser436Ter Single submitter
- p.Ser538Ter Single submitter X-linked Opitz G/BBB syndrome
- p.Thr518_Pro519insTer Single submitter Inborn genetic diseases
- p.Glu115Ter No assertion criteria X-linked Opitz G/BBB syndrome
- p.Glu238Ter No assertion criteria X-linked Opitz G/BBB syndrome
- p.Glu520fs No assertion criteria X-linked Opitz G/BBB syndrome
- p.Leu295Pro No assertion criteria X-linked Opitz G/BBB syndrome
- p.Leu626Pro No assertion criteria X-linked Opitz G/BBB syndrome
- p.Met438del No assertion criteria X-linked Opitz G/BBB syndrome
- p.Thr640fs No assertion criteria X-linked Opitz G/BBB syndrome
- p.Val440fs No assertion criteria X-linked Opitz G/BBB syndrome
Pathogenic/Likely pathogenic 1
- p.Ala130Thr Multiple submitters X-linked Opitz G/BBB syndrome
Likely pathogenic 24
- c.1142-1G>T Single submitter X-linked Opitz G/BBB syndrome
- c.1142-2A>G Single submitter X-linked Opitz G/BBB syndrome
- c.1286-1G>C Single submitter
- c.1655+1G>A Single submitter X-linked Opitz G/BBB syndrome
- c.757-1G>A Single submitter X-linked Opitz G/BBB syndrome
- c.864+1G>A Single submitter
- p.Ala127fs Single submitter X-linked Opitz G/BBB syndrome
- p.Arg308fs Single submitter X-linked Opitz G/BBB syndrome
- p.Asp129fs Single submitter
- p.Cys119Tyr Single submitter X-linked Opitz G/BBB syndrome
- p.Cys134Tyr Single submitter
- p.Cys33Ter Single submitter
- p.Cys392fs Single submitter X-linked Opitz G/BBB syndrome
- p.Gln454Ter Single submitter MID1-related disorder
- p.Ile162fs Single submitter X-linked Opitz G/BBB syndrome
- p.Ile536delinsProArgArgValThrHisLeuAsnAlaSerProAlaArgGlyAlaMetGluTer Single submitter MID1-related disorder
- p.Leu244Pro Single submitter X-linked Opitz G/BBB syndrome
- p.Lys564fs Single submitter X-linked Opitz G/BBB syndrome
- p.Phe421fs Single submitter MID1-related disorder
- p.Pro485fs Single submitter X-linked Opitz G/BBB syndrome
- p.Trp437Ter Single submitter X-linked Opitz G/BBB syndrome
- p.Tyr448His Single submitter Inborn genetic diseases ⚠
- p.Tyr627Ter Single submitter X-linked Opitz G/BBB syndrome
- p.Gln297Ter No assertion criteria X-linked Opitz G/BBB syndrome
Conflicting classifications of pathogenicity 18
- p.Ala114= Single submitter
- p.Ala260Thr Single submitter ⚠
- p.Arg257Cys Single submitter Inborn genetic diseases ⚠
- p.Arg257Ser Single submitter X-linked Opitz G/BBB syndrome ⚠
- p.Arg472His Single submitter Inborn genetic diseases ⚠
- p.Arg495Gln Single submitter Inborn genetic diseases ⚠
- p.Asn95Ser Single submitter Inborn genetic diseases ⚠
- p.Asp84Asn Single submitter History of neurodevelopmental disorder ⚠
- p.Cys33= Single submitter
- p.Gln454Arg Single submitter Inborn genetic diseases ⚠
- p.Leu497= Single submitter
- p.Leu504= Single submitter
- p.Met462Ile Single submitter Inborn genetic diseases ⚠
- p.Pro385Ala Single submitter Inborn genetic diseases ⚠
- p.Ser140= Single submitter
- p.Ser433Leu Single submitter X-linked Opitz G/BBB syndrome ⚠
- p.Val427Ile Single submitter X-linked Opitz G/BBB syndrome ⚠
- p.Val77Ile Single submitter ⚠
Benign 52
- c.1142-88G>A Multiple submitters
- c.1285+147G>C Multiple submitters
- c.1285+282A>C Multiple submitters
- c.1286-219T>C Multiple submitters
- c.661-22_661-21dup Multiple submitters
- c.661-6G>T Multiple submitters
- c.661-7dup Multiple submitters
- c.757-10782G>A Multiple submitters
- c.757-142A>C Multiple submitters
- c.865-131T>C Multiple submitters
- p.Cys25= Multiple submitters Inborn genetic diseases
- p.Gly287= Multiple submitters Inborn genetic diseases
- p.Ser410= Multiple submitters Inborn genetic diseases
- c.1014-13G>T Single submitter
- c.1014-73del Single submitter
- c.1285+13T>C Single submitter
- c.1285+285C>T Single submitter
- c.1285+334dup Single submitter
- c.1286-13_1286-10dup Single submitter
- c.1286-20A>G Single submitter
- c.1447+18A>T Single submitter
- c.1448-20T>G Single submitter
- c.660+13C>T Single submitter
- c.660+14G>A Single submitter
- c.660+8C>T Single submitter
- c.661-6_661-5insT Single submitter
- c.757-6C>T Single submitter
- c.864+5G>A Single submitter
- c.-56-195T>C Single submitter
- c.-56-232del Single submitter
- p.Ala34Thr Single submitter ⚠
- p.Arg102Gln Single submitter
- p.Asn426= Single submitter
- p.Asn45Ser Single submitter
- p.Asn482= Single submitter
- p.Asn95= Single submitter
- p.Asp129= Single submitter
- p.Asp360= Single submitter
- p.Cys137= Single submitter
- p.Cys145= Single submitter
- p.Glu214= Single submitter
- p.His35Gln Single submitter
- p.His451= Single submitter
- p.Leu227Phe Single submitter ⚠
- p.Leu453= Single submitter
- p.Lys88= Single submitter
- p.Ser113= Single submitter
- p.Ser455= Single submitter
- p.Ser513= Single submitter
- p.Thr400= Single submitter
- p.Thr449Met Single submitter ⚠
- p.Thr64= Single submitter
Benign/Likely benign 21
- c.661-7del Multiple submitters
- c.661-8_661-7del Multiple submitters
- p.Ala196= Multiple submitters Inborn genetic diseases
- p.Ala316= Multiple submitters
- p.Arg101His Multiple submitters Inborn genetic diseases
- p.Arg521Cys Multiple submitters Inborn genetic diseases
- p.Asn229Ser Multiple submitters Inborn genetic diseases
- p.Asn356Ser Multiple submitters Inborn genetic diseases
- p.Glu144Lys Multiple submitters Inborn genetic diseases
- p.Gly93Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu262= Multiple submitters
- p.Leu79= Multiple submitters
- p.Phe535= Multiple submitters Inborn genetic diseases
- p.Pro166= Multiple submitters Inborn genetic diseases
- p.Ser367= Multiple submitters
- p.Ser433= Multiple submitters Inborn genetic diseases
- p.Ser538Thr Multiple submitters Inborn genetic diseases
- p.Thr422= Multiple submitters Inborn genetic diseases
- p.Thr449= Multiple submitters
- p.Thr481= Multiple submitters
- p.Tyr414= Multiple submitters Inborn genetic diseases
Likely benign 131
- c.757-5745G>A Multiple submitters
- c.757-5746C>T Multiple submitters
- p.Asp71= Multiple submitters
- p.Leu173= Multiple submitters
- p.Leu269= Multiple submitters
- p.Pro151= Multiple submitters Inborn genetic diseases
- p.Thr358= Multiple submitters Inborn genetic diseases
- p.Thr44Ala Multiple submitters Inborn genetic diseases
- p.Val139= Multiple submitters Inborn genetic diseases
- c.1013+12G>A Single submitter
- c.1013+13G>T Single submitter
- c.1013+17C>T Single submitter
- c.1013+20G>A Single submitter
- c.1013+8C>A Single submitter
- c.1013+9A>C Single submitter
- c.1013+9A>G Single submitter
- c.1014-20T>C Single submitter
- c.1014-8C>T Single submitter
- c.1014-9G>C Single submitter
- c.1141+13A>G Single submitter
- c.1142-13T>A Single submitter
- c.1142-17A>G Single submitter
- c.1285+12A>G Single submitter
- c.1285+16C>T Single submitter
- c.1447+18A>G Single submitter
- c.1447+20C>T Single submitter
- c.1448-16_1448-7dup Single submitter
- c.1448-22_1448-17del Single submitter
- c.1448-23_1448-18dup Single submitter
- c.1655+15_1655+20del Single submitter
- c.660+12C>G Single submitter
- c.660+13C>A Single submitter
- c.660+8C>G Single submitter
- c.660+9G>A Single submitter
- c.661-10_661-7del Single submitter
- c.661-9_661-7dup Single submitter
- c.757-17T>C Single submitter
- c.757-18A>G Single submitter
- c.757-18A>T Single submitter
- c.864+18G>C Single submitter
- c.864+9T>C Single submitter
- c.865-14_865-12del Single submitter
- c.865-16G>A Single submitter
- c.865-18A>G Single submitter
- c.865-27TC[3] Single submitter
- c.865-9_865-8del Single submitter
- p.Ala260= Single submitter
- p.Ala300= Single submitter
- p.Ala34= Single submitter
- p.Ala53= Single submitter
- p.Arg205= Single submitter
- p.Arg215= Single submitter
- p.Asn222= Single submitter
- p.Asn254= Single submitter
- p.Asn383= Single submitter
- p.Asn442= Single submitter
- p.Asn45= Single submitter
- p.Asn76= Single submitter
- p.Asp107= Single submitter
- p.Asp143= Single submitter
- p.Asp357= Single submitter
- p.Asp365= Single submitter
- p.Asp397= Single submitter
- p.Asp406= Single submitter
- p.Cys187= Single submitter
- p.Gln208= Single submitter
- p.Gln258= Single submitter
- p.Gln297= Single submitter
- p.Gln484= Single submitter
- p.Glu236= Single submitter
- p.Glu307= Single submitter
- p.Glu369= Single submitter
- p.Glu475= Single submitter
- p.Glu510= Single submitter
- p.Gly281= Single submitter
- p.Gly470= Single submitter Inborn genetic diseases
- p.Gly539= Single submitter
- p.Gly549= Single submitter
- p.His318= Single submitter
- p.His402= Single submitter
- p.His41= Single submitter
- p.His517= Single submitter
- p.Ile280= Single submitter
- p.Ile284= Single submitter
- p.Ile63= Single submitter
- p.Leu118= Single submitter
- p.Leu146= Single submitter
- p.Leu21= Single submitter
- p.Leu22= Single submitter
- p.Leu241= Single submitter
- p.Leu312= Single submitter
- p.Leu349= Single submitter
- p.Leu376= Single submitter
- p.Leu430= Single submitter
- p.Leu479= Single submitter
- p.Leu488= Single submitter
- p.Lys182= Single submitter
- p.Lys294= Single submitter
- p.Lys458= Single submitter
- p.Lys478= Single submitter
- p.Phe409= Single submitter
- p.Phe54= Single submitter
- p.Pro20= Single submitter
- p.Pro441= Single submitter
- p.Pro490= Single submitter
- p.Pro94= Single submitter
- p.Ser309= Single submitter
- p.Ser405= Single submitter
- p.Ser413= Single submitter
- p.Ser436= Single submitter
- p.Ser47= Single submitter
- p.Ser483= Single submitter
- p.Ser492= Single submitter
- p.Thr189= Single submitter
- p.Thr239= Single submitter
- p.Thr336= Single submitter
- p.Thr343= Single submitter
- p.Thr361= Single submitter
- p.Thr386= Single submitter
- p.Thr404= Single submitter
- p.Thr457= Single submitter
- p.Thr52= Single submitter
- p.Val253= Single submitter
- p.Val450= Single submitter
- p.Val48= Single submitter
- p.Val499= Single submitter
- p.Val530= Single submitter
- p.Val546= Single submitter
- p.Val62= Single submitter
- c.757-10802C>T No assertion criteria MID1-related disorder
- p.Ala108Thr No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 130
- c.864+4T>G Multiple submitters
- p.Ala114Thr Multiple submitters X-linked Opitz G/BBB syndrome ⚠
- p.Ala211Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala316Glu Multiple submitters ⚠
- p.Arg291Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg36His Multiple submitters X-linked Opitz G/BBB syndrome ⚠
- p.Arg472Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg68Gln Multiple submitters ⚠
- p.Asn234Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp180Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gly529Ala Multiple submitters Inborn genetic diseases ⚠
- p.His159Arg Multiple submitters X-linked Opitz G/BBB syndrome ⚠
- p.Ile555Val Multiple submitters X-linked Opitz G/BBB syndrome ⚠
- p.Lys515del Multiple submitters Inborn genetic diseases
- p.Lys560Arg Multiple submitters X-linked Opitz G/BBB syndrome ⚠
- p.Ser225Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr393Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val201Ile Multiple submitters B-cell immunodeficiency, distal limb anomalies, and urogenital malformations ⚠
- p.Val428Ile Multiple submitters ⚠
- c.1285+102C>G Single submitter
- c.1285+5G>A Single submitter
- c.1447+2dup Single submitter
- c.757-10756G>A Single submitter
- c.757-5721del Single submitter
- c.757-5831A>G Single submitter X-linked Opitz G/BBB syndrome
- c.864+6A>G Single submitter
- p.Ala114Ser Single submitter ⚠
- p.Ala26Thr Single submitter ⚠
- p.Ala326Val Single submitter Inborn genetic diseases ⚠
- p.Ala34Asp Single submitter MID1-related disorder ⚠
- p.Ala363Thr Single submitter ⚠
- p.Ala465Val Single submitter ⚠
- p.Arg102Trp Single submitter Inborn genetic diseases ⚠
- p.Arg203Gln Single submitter ⚠
- p.Arg203Trp Single submitter
- p.Arg205Cys Single submitter ⚠
- p.Arg257His Single submitter Inborn genetic diseases ⚠
- p.Arg308Trp Single submitter ⚠
- p.Arg327Cys Single submitter Inborn genetic diseases ⚠
- p.Arg338= Single submitter
- p.Arg338Gly Single submitter ⚠
- p.Arg36Cys Single submitter ⚠
- p.Arg472_Ser473dup Single submitter
- p.Arg508His Single submitter Inborn genetic diseases ⚠
- p.Arg521His Single submitter ⚠
- p.Arg521Leu Single submitter Inborn genetic diseases ⚠
- p.Arg540Gln Single submitter Inborn genetic diseases ⚠
- p.Arg85Ser Single submitter Inborn genetic diseases ⚠
- p.Asn109Asp Single submitter ⚠
- p.Asn184Lys Single submitter ⚠
- p.Asn184Ser Single submitter ⚠
- p.Asn226Ile Single submitter ⚠
- p.Asn234Ser Single submitter ⚠
- p.Asn254Ser Single submitter ⚠
- p.Asn354Lys Single submitter Inborn genetic diseases ⚠
- p.Asn446Ile Single submitter ⚠
- p.Asn533Thr Single submitter Inborn genetic diseases ⚠
- p.Asp191Asn Single submitter MID1-related disorder ⚠
- p.Asp267Asn Single submitter ⚠
- p.Asp406Asn Single submitter ⚠
- p.Asp537Asn Single submitter ⚠
- p.Gln124Glu Single submitter ⚠
- p.Glu15Ala Single submitter ⚠
- p.Glu179Lys Single submitter X-linked Opitz G/BBB syndrome ⚠
- p.Glu264Gly Single submitter Inborn genetic diseases ⚠
- p.Glu337Lys Single submitter Inborn genetic diseases ⚠
- p.Glu475Asp Single submitter ⚠
- p.Glu5Gly Single submitter Inborn genetic diseases ⚠
- p.Gly423Ala Single submitter ⚠
- p.Gly539Asp Single submitter ⚠
- p.Gly72Arg Single submitter ⚠
- p.His150Tyr Single submitter ⚠
- p.His169Tyr Single submitter Inborn genetic diseases ⚠
- p.His250Tyr Single submitter ⚠
- p.His27Asp Single submitter ⚠
- p.His325Asp Single submitter ⚠
- p.His41Gln Single submitter ⚠
- p.His541_Tyr542insLeuPheIleAspSerGlyArgHis Single submitter X-linked Opitz G/BBB syndrome
- p.Ile12Val Single submitter ⚠
- p.Ile162Thr Single submitter ⚠
- p.Ile231Met Single submitter X-linked Opitz G/BBB syndrome ⚠
- p.Ile245Thr Single submitter ⚠
- p.Ile270Thr Single submitter ⚠
- p.Ile284_Lys285del Single submitter
- p.Ile37Leu Single submitter Inborn genetic diseases ⚠
- p.Ile51Val Single submitter ⚠
- p.Leu230Arg Single submitter ⚠
- p.Leu292Phe Single submitter ⚠
- p.Leu497Arg Single submitter ⚠
- p.Leu504Phe Single submitter ⚠
- p.Lys261Arg Single submitter Inborn genetic diseases ⚠
- p.Lys283Asn Single submitter X-linked Opitz G/BBB syndrome ⚠
- p.Lys288Glu Single submitter ⚠
- p.Lys491Arg Single submitter ⚠
- p.Lys491Thr Single submitter Inborn genetic diseases ⚠
- p.Lys514Arg Single submitter Inborn genetic diseases ⚠
- p.Lys515Glu Single submitter X-linked Opitz G/BBB syndrome ⚠
- p.Met290Ile Single submitter ⚠
- p.Phe486Cys Single submitter ⚠
- p.Phe535Leu Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro166Leu Single submitter ⚠
- p.Ser346Phe Single submitter Inborn genetic diseases ⚠
- p.Ser346Pro Single submitter ⚠
- p.Ser436Thr Single submitter Inborn genetic diseases ⚠
- p.Ser492Pro Single submitter ⚠
- p.Ser513Pro Single submitter ⚠
- p.Ser550Asn Single submitter X-linked Opitz G/BBB syndrome ⚠
- p.Ser92Asn Single submitter ⚠
- p.Thr110Ile Single submitter ⚠
- p.Thr149Ser Single submitter ⚠
- p.Thr157Ala Single submitter Inborn genetic diseases ⚠
- p.Thr331Ser Single submitter ⚠
- p.Thr361Ile Single submitter ⚠
- p.Thr398Ser Single submitter ⚠
- p.Thr44Ile Single submitter ⚠
- p.Thr457Ile Single submitter ⚠
- p.Thr518Arg Single submitter ⚠
- p.Thr518Ile Single submitter ⚠
- p.Tyr186Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr528Cys Single submitter X-linked Opitz G/BBB syndrome
- p.Val209= Single submitter
- p.Val253Ile Single submitter ⚠
- p.Val411Met Single submitter Inborn genetic diseases ⚠
- p.Val499Met Single submitter X-linked Opitz G/BBB syndrome ⚠
- c.757-10784C>T No assertion criteria MID1-related disorder
- c.757-5727G>A No assertion criteria MID1-related disorder
- p.Asp537_Ser538insAsp No assertion criteria X-linked Opitz G/BBB syndrome
- p.Gly477Arg No assertion criteria ⚠
- p.Leu292Pro No assertion criteria MID1-related disorder ⚠