PIGT — 390 ClinVar variants
All ClinVar germline PIGT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →
11 Pathogenic · 7 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 20 Conflicting · 14 Benign · 7 Benign/Likely benign · 132 Likely benign · 190 Uncertain significance
Full PIGT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 172
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 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PIGT p.Ala8Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PIGT p.Arg507Trp
Conflicting
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Asn516Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PIGT p.Asp283Val
Conflicting
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Glu184Lys
Conflicting
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Glu24Lys
Conflicting
Single submitter
Inborn genetic diseases
-
PIGT p.Gly501Asp
Conflicting
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.His212Tyr
Conflicting
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ile317Val
Conflicting
Single submitter
Inborn genetic diseases
-
PIGT p.Thr269Met
Conflicting
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Thr532Met Conflicting Single submitter
-
PIGT p.Val296Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 129
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PIGT p.Ala248Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Ala449Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Arg209Cys
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg209His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Arg223Cys
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg230His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Arg279Gln
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg422Trp
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg557His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Arg564Gln
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg564Trp
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Asn327His
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Cys182Tyr
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Glu455Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Glu554Lys
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Gly74Val
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.His376Pro
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Leu176Pro
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Leu309Val
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Leu321Arg
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Phe116Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Pro194Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Pro418Ala
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Pro435Leu
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Pro518Leu
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ser56Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Ser88Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Thr401Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PIGT p.Thr457Lys Uncertain significance Multiple submitters
-
PIGT p.Thr510Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Tyr98Cys
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Val307Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Ala106Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Ala229Val
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ala23Thr
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ala346Pro
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ala3Val
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ala8Gly
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ala8Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Ala8Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Ala8Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Arg223His
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg230Cys
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Arg27Ser Uncertain significance Single submitter
-
PIGT p.Arg379Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Arg394Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Arg53Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Arg549Leu Uncertain significance Single submitter
-
PIGT p.Arg570Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Arg60Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Asn437Asp Uncertain significance Single submitter
-
PIGT p.Asn527His
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Asn567Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Asp283Tyr
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Asp485Glu
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Cys21Gly
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Cys21Phe
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Cys226Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Cys272Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Cys533Gly
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Gln253Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Gln417Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Gln433Glu
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Gln433Pro Uncertain significance Single submitter
- PIGT p.Gln59His Uncertain significance Single submitter
-
PIGT p.Gly16Trp
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Gly18Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Gly362Trp
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Gly463Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Gly559Asp
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.His376Asp
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.His86Asn Uncertain significance Single submitter
- PIGT p.Ile137Met Uncertain significance Single submitter
- PIGT p.Ile234Val Uncertain significance Single submitter
-
PIGT p.Leu193Trp
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Leu201Pro
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Leu242Gln
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Leu423Val
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Leu427Phe
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Leu431Val Uncertain significance Single submitter
- PIGT p.Leu434Gln Uncertain significance Single submitter
-
PIGT p.Leu7Phe
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Leu7Val Uncertain significance Single submitter
- PIGT p.Lys191Asn Uncertain significance Single submitter
-
PIGT p.Lys365Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Lys365Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Met524Leu Uncertain significance Single submitter
-
PIGT p.Met524Thr
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Met5Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Phe138Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Phe48Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Phe496Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Phe543Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Phe93Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Pro153Leu
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Pro188His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Pro25Leu
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Pro26Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Pro298Arg Uncertain significance Single submitter
-
PIGT p.Pro348Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Pro518Arg
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Pro577Ala
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Pro577Gln Uncertain significance Single submitter
- PIGT p.Pro577Leu Uncertain significance Single submitter
-
PIGT p.Ser259Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Ser329Phe Uncertain significance Single submitter
-
PIGT p.Ser489Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Ser64Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Ser64Pro
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Thr148Asn Uncertain significance Single submitter
-
PIGT p.Thr251Met
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Thr269Ser
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Thr302Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Thr370Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Thr510Ser
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Thr532Lys
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Trp20Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Trp99Gly
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Tyr318Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Tyr509Cys Uncertain significance Single submitter
-
PIGT p.Val203Leu
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Val349Met
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Val358Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Val389Ile Uncertain significance Single submitter
-
PIGT p.Val397Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Val575Leu Uncertain significance Single submitter
-
PIGT p.Val575Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Pro70Leu Uncertain significance No assertion criteria
-
PIGT p.Val358Met
Uncertain significance
No assertion criteria
paroxysmal nocturnal hemoglobinuria 2
Predictors split 31
The independent predictors disagree with each other — read with care.
-
PIGT p.Arg178Gln
Benign
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg448Gln
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg571Cys
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg571His
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Asn545Ser
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Asp257Ala
Benign/Likely benign
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Phe246Leu
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Pro377Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Pro382Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Thr52Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Tyr361Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGT p.Val358Gly
Uncertain significance
Multiple submitters
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ala572Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Arg379Trp Uncertain significance Single submitter
-
PIGT p.Arg422Gln
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Arg557Cys
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Asp28Asn Uncertain significance Single submitter
-
PIGT p.His221Arg
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.His376Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Ile569Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Leu14Arg Uncertain significance Single submitter
-
PIGT p.Met263Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Phe69Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Pro194Ser
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
- PIGT p.Pro271Leu Uncertain significance Single submitter
-
PIGT p.Pro300Leu
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ser196Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PIGT p.Thr119Ile Uncertain significance Single submitter
-
PIGT p.Val535Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGT p.Val538Ala
Uncertain significance
Single submitter
multiple congenital anomalies-hypotonia-seizures syndrome 3
-
PIGT p.Ala324Pro
Uncertain significance
No assertion criteria
PIGT-related disorder
All PIGT variants
Pathogenic 11
- c.494-2A>G Multiple submitters PIGT-related disorder
- p.Arg330Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Glu84Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Val203fs Multiple submitters Inborn genetic diseases
- p.Arg279Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Gln91Ter Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro348fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Trp189fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Trp20fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Tyr304fs Single submitter Neurodevelopmental delay
- p.Val307fs No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 3
Pathogenic/Likely pathogenic 7
- c.188-2A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Arg172Cys Multiple submitters PIGT-related disorder
- p.Arg266Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Arg448Trp Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Gly360Val Multiple submitters PIGT-related disorder
- p.Val349fs Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Val528Met Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
Likely pathogenic 9
- p.Glu237Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asp43fs Single submitter PIGT-related disorder
- p.Gly366Trp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu134fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu508fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu82fs Single submitter
- p.Phe492fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro6fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr183Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
Conflicting classifications of pathogenicity 20
- c.493+6A>T Single submitter
- c.494-5C>T Single submitter Inborn genetic diseases
- p.Ala163= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala248= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala8Ser Single submitter Inborn genetic diseases ⚠
- p.Arg356Gln Single submitter Inborn genetic diseases
- p.Arg507Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Arg507Trp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Asn516Ser Single submitter Inborn genetic diseases ⚠
- p.Asp283Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Glu184Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Glu24Lys Single submitter Inborn genetic diseases ⚠
- p.Gly501Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.His212Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Ile317Val Single submitter Inborn genetic diseases ⚠
- p.Leu578fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr251= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr269Met Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Thr532Met Single submitter ⚠
- p.Val296Met Single submitter Inborn genetic diseases ⚠
Benign 14
- c.1400+48T>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1485-170G>A Multiple submitters
- c.365+236A>C Multiple submitters
- c.365+276G>A Multiple submitters
- c.366-184G>A Multiple submitters
- c.594+36dup Multiple submitters paroxysmal nocturnal hemoglobinuria 2
- p.Arg178Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Thr457= Multiple submitters paroxysmal nocturnal hemoglobinuria 2
- p.Tyr540= Multiple submitters paroxysmal nocturnal hemoglobinuria 2
- c.1033+150G>A Single submitter
- c.1034-103dup Single submitter
- c.1234+119T>C Single submitter
- c.1485-12C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Val11= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
Benign/Likely benign 7
- p.Ala354Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala4= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala473Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asp257Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Thr323= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Val123Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Val225= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
Likely benign 132
- c.1484+10A>C Multiple submitters
- c.365+194G>A Multiple submitters
- c.770-15C>T Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.*182G>C Multiple submitters
- p.Ala346= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala419= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala449= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala537= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Arg279= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Arg422= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asp306= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asp319= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Cys139= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ile569= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu428= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu9= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Met5Val Multiple submitters Inborn genetic diseases
- p.Pro102= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro177= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr269= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr388= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr454= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1033+15G>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1033+20G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1034-206A>G Single submitter
- c.1034-235G>A Single submitter
- c.1034-5C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1234+152C>T Single submitter
- c.1234+7A>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1235-15C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1235-193C>G Single submitter
- c.1235-8G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1400+15C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1484+10A>T Single submitter
- c.1484+18C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1485-10C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1485-13C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1485-19G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.1485-20C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.187+24G>A Single submitter
- c.188-11C>G Single submitter
- c.188-12C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.365+13C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.365+13C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.365+17G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.365+19C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.365+293G>T Single submitter
- c.366-17T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.366-328C>T Single submitter
- c.366-5T>C Single submitter
- c.366-8C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.493+11C>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.493+12C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.493+16C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.494-16C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.594+30C>G Single submitter
- c.594+9G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.595-10T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.595-4C>T Single submitter Inborn genetic diseases
- c.595-5_595-3del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.681+18G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.681+8A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.682-246C>G Single submitter
- c.770-12T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.770-14G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.770-9G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.867+6A>G Single submitter
- c.868-10G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.868-20C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala2= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala3= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala45= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala480= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Arg27= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Arg31= Single submitter
- p.Arg571= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asn288= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asn291= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asn527= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asp146= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Gln91= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Gly560= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.His212= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.His353= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ile145= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ile334= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ile36= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ile553= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu15= Single submitter
- p.Leu162= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu204_Leu205= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu336= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu385= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu400= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu450= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu546= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu547= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu561= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu68= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Lys191= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Met5Thr Single submitter Inborn genetic diseases
- p.Phe144= Single submitter
- p.Phe157= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro273= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro38= Single submitter
- p.Pro382= Single submitter
- p.Pro435= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro518= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro520= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro525= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro577= Single submitter
- p.Ser259= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ser29= Single submitter
- p.Ser469= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ser472= Single submitter
- p.Ser64= Single submitter
- p.Ser88= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr152Ala Single submitter Inborn genetic diseases
- p.Thr241= Single submitter
- p.Thr267= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr293= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr302= Single submitter
- p.Thr370= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr375= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr399= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr550= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr90= Single submitter
- p.Tyr357= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Tyr526= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Val181= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Val475= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Val536= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
Uncertain significance 190
- c.1484+3A>G Multiple submitters Inborn genetic diseases
- p.Ala248Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala449Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg178Trp Multiple submitters Inborn genetic diseases
- p.Arg209Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg209His Multiple submitters Inborn genetic diseases ⚠
- p.Arg223Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg230His Multiple submitters Inborn genetic diseases ⚠
- p.Arg262Trp Multiple submitters Inborn genetic diseases
- p.Arg279Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg394Trp Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Arg422Trp Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg448Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg549Gln Multiple submitters Inborn genetic diseases
- p.Arg557His Multiple submitters Inborn genetic diseases ⚠
- p.Arg564Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg564Trp Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg571Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg571His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg573Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Asn327His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Asn545Ser Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Cys182Tyr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Glu455Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu554Lys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Gly74Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.His376Pro Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu142Phe Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu176Pro Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu309Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu321Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Phe116Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Phe246Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro194Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro377Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro382Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro38Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro418Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro435Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro512Leu Multiple submitters Inborn genetic diseases
- p.Pro518Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Ser56Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser88Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr401Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr457Lys Multiple submitters ⚠
- p.Thr510Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr52Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr361Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr98Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Val307Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val358Gly Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Val538Met Multiple submitters Inborn genetic diseases
- c.1034-18T>C Single submitter
- c.1234+5G>A Single submitter
- c.1400+6C>A Single submitter
- c.366-6A>G Single submitter Inborn genetic diseases
- c.494-10T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- c.682-2dup Single submitter
- c.769+5G>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Ala106Thr Single submitter Inborn genetic diseases ⚠
- p.Ala229Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Ala23Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Ala346Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Ala3Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Ala572Thr Single submitter Inborn genetic diseases ⚠
- p.Ala8Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Ala8Pro Single submitter Inborn genetic diseases ⚠
- p.Ala8Thr Single submitter Inborn genetic diseases ⚠
- p.Ala8Val Single submitter Inborn genetic diseases ⚠
- p.Arg223His Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg230Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg27Ser Single submitter ⚠
- p.Arg379Gln Single submitter Inborn genetic diseases ⚠
- p.Arg379Trp Single submitter ⚠
- p.Arg394Gln Single submitter Inborn genetic diseases ⚠
- p.Arg422Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg53Leu Single submitter Inborn genetic diseases ⚠
- p.Arg549Leu Single submitter ⚠
- p.Arg557Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Arg570Trp Single submitter Inborn genetic diseases ⚠
- p.Arg573Gln Single submitter Inborn genetic diseases
- p.Arg60Gln Single submitter Inborn genetic diseases ⚠
- p.Asn437Asp Single submitter ⚠
- p.Asn527His Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Asn567Ser Single submitter Inborn genetic diseases ⚠
- p.Asp124Val Single submitter Inborn genetic diseases
- p.Asp283Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Asp28Asn Single submitter ⚠
- p.Asp485Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Cys21Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Cys21Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Cys226Gly Single submitter Inborn genetic diseases ⚠
- p.Cys272Phe Single submitter Inborn genetic diseases ⚠
- p.Cys533Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Gln253Arg Single submitter Inborn genetic diseases ⚠
- p.Gln417Glu Single submitter Inborn genetic diseases ⚠
- p.Gln433Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Gln433Pro Single submitter ⚠
- p.Gln59His Single submitter ⚠
- p.Glu511fs Single submitter
- p.Gly16Trp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Gly18Ser Single submitter Inborn genetic diseases ⚠
- p.Gly362Trp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Gly463Asp Single submitter Inborn genetic diseases ⚠
- p.Gly541Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Gly559Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.His221Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.His376Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.His376Tyr Single submitter Inborn genetic diseases ⚠
- p.His86Asn Single submitter ⚠
- p.Ile137Met Single submitter ⚠
- p.Ile234Val Single submitter ⚠
- p.Ile569Thr Single submitter Inborn genetic diseases ⚠
- p.Leu14Arg Single submitter ⚠
- p.Leu160Pro Single submitter Inborn genetic diseases
- p.Leu193Trp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu201Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu242Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu423Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu427Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu431Val Single submitter ⚠
- p.Leu434Gln Single submitter ⚠
- p.Leu474Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu531Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Leu7_Ala8delinsProSer Single submitter
- p.Leu7Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Leu7Val Single submitter ⚠
- p.Lys191Asn Single submitter ⚠
- p.Lys365Asn Single submitter Inborn genetic diseases ⚠
- p.Lys365Glu Single submitter Inborn genetic diseases ⚠
- p.Met263Thr Single submitter Inborn genetic diseases ⚠
- p.Met524Leu Single submitter ⚠
- p.Met524Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Met5Ile Single submitter Inborn genetic diseases ⚠
- p.Phe138Leu Single submitter Inborn genetic diseases ⚠
- p.Phe48Ser Single submitter Inborn genetic diseases ⚠
- p.Phe496Ile Single submitter Inborn genetic diseases ⚠
- p.Phe543Leu Single submitter Inborn genetic diseases ⚠
- p.Phe69Leu Single submitter Inborn genetic diseases ⚠
- p.Phe93Ile Single submitter Inborn genetic diseases ⚠
- p.Pro153Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro159Leu Single submitter
- p.Pro188His Single submitter Inborn genetic diseases ⚠
- p.Pro194Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro25Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro26Leu Single submitter Inborn genetic diseases ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro298Arg Single submitter ⚠
- p.Pro300Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro348Leu Single submitter Inborn genetic diseases ⚠
- p.Pro476Thr Single submitter Inborn genetic diseases
- p.Pro518Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro577Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Pro577fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Pro577Gln Single submitter ⚠
- p.Pro577Leu Single submitter ⚠
- p.Ser196Ile Single submitter Inborn genetic diseases ⚠
- p.Ser259Cys Single submitter Inborn genetic diseases ⚠
- p.Ser265Cys Single submitter
- p.Ser329Phe Single submitter ⚠
- p.Ser489Asn Single submitter Inborn genetic diseases ⚠
- p.Ser64Cys Single submitter Inborn genetic diseases ⚠
- p.Ser64Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Thr119Ile Single submitter ⚠
- p.Thr148Asn Single submitter ⚠
- p.Thr251Met Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Thr269Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Thr302Ala Single submitter Inborn genetic diseases ⚠
- p.Thr370Ala Single submitter Inborn genetic diseases ⚠
- p.Thr510Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Thr532fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Thr532Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Trp20Cys Single submitter Inborn genetic diseases ⚠
- p.Trp99Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Tyr281Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3
- p.Tyr318Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr509Cys Single submitter ⚠
- p.Tyr80Cys Single submitter Inborn genetic diseases
- p.Val203Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Val349Met Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Val358Leu Single submitter Inborn genetic diseases ⚠
- p.Val389Ile Single submitter ⚠
- p.Val397Leu Single submitter Inborn genetic diseases ⚠
- p.Val535Leu Single submitter Inborn genetic diseases ⚠
- p.Val538Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 3 ⚠
- p.Val575Leu Single submitter ⚠
- p.Val575Phe Single submitter Inborn genetic diseases ⚠
- p.Ala324Pro No assertion criteria PIGT-related disorder ⚠
- p.Pro70Leu No assertion criteria ⚠
- p.Val358Met No assertion criteria paroxysmal nocturnal hemoglobinuria 2 ⚠