Sugi Variant

Sugi Variant/PIGA

PIGA — 412 ClinVar variants

All ClinVar germline PIGA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →

21 Pathogenic · 3 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 34 Conflicting · 21 Benign · 19 Benign/Likely benign · 108 Likely benign · 180 Uncertain significance

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

⚑ Evidence disagreements 182

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 24

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

Predictors lean, ClinVar uncertain 117

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

Predictors split 41

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

All PIGA variants

Pathogenic 21

  • p.Arg412Ter Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Arg19fs Single submitter
  • p.Asn343fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Asp452Asn Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu344del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Phe117Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ser24fs Single submitter
  • c.1188+1G>A No assertion criteria paroxysmal nocturnal hemoglobinuria
  • c.1188+2del No assertion criteria paroxysmal nocturnal hemoglobinuria
  • p.Arg77Leu No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer No assertion criteria paroxysmal nocturnal hemoglobinuria
  • p.Gln55Ter No assertion criteria paroxysmal nocturnal hemoglobinuria
  • p.His154fs No assertion criteria paroxysmal nocturnal hemoglobinuria
  • p.Ile206Phe No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu442fs No assertion criteria paroxysmal nocturnal hemoglobinuria
  • p.Pro372fs No assertion criteria paroxysmal nocturnal hemoglobinuria
  • p.Pro93Leu No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ser127Leu No assertion criteria Neurodevelopmental disorder with epilepsy and hemochromatosis ⚠
  • p.Thr144fs No assertion criteria paroxysmal nocturnal hemoglobinuria
  • p.Thr84fs No assertion criteria paroxysmal nocturnal hemoglobinuria
  • p.Tyr26fs No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 2

Pathogenic/Likely pathogenic 3

  • p.Arg119Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Arg119Trp Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Val49Met Multiple submitters paroxysmal nocturnal hemoglobinuria 1

Likely pathogenic 26

  • p.Arg81His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Met37Val Multiple submitters paroxysmal nocturnal hemoglobinuria 1
  • p.Val329Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.1189-2_1189-1del Single submitter
  • c.-63+1G>A Single submitter
  • p.Arg283Gly Single submitter Epileptic encephalopathy
  • p.Arg63Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Arg81Ser Single submitter PIGA-related disorder
  • p.Asp452Val Single submitter paroxysmal nocturnal hemoglobinuria 1 ⚠
  • p.Cys251Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.His65Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Lys238Arg Single submitter PIGA-related disorder
  • p.Met1Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Phe428fs Single submitter paroxysmal nocturnal hemoglobinuria 1
  • p.Ser132Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr465fs Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Trp387fs Single submitter
  • p.Tyr98Cys Single submitter
  • p.Tyr98Ter Single submitter paroxysmal nocturnal hemoglobinuria
  • p.Val38Ala Single submitter
  • c.1188+1G>C No assertion criteria paroxysmal nocturnal hemoglobinuria 1
  • p.Ile380fs No assertion criteria paroxysmal nocturnal hemoglobinuria 1
  • p.Lys66fs No assertion criteria paroxysmal nocturnal hemoglobinuria 1
  • p.Pro111fs No assertion criteria paroxysmal nocturnal hemoglobinuria 1
  • p.Ser51fs No assertion criteria paroxysmal nocturnal hemoglobinuria 1
  • p.Tyr90His No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 2

Conflicting classifications of pathogenicity 34

  • c.1188+4T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.715+5T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.849-19C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ala142Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ala15Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg12His Single submitter Inborn genetic diseases ⚠
  • p.Arg19Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg275Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg31Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg400Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg412Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg461Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg461Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg77Gln Single submitter Neurodevelopmental disorder with epilepsy and hemochromatosis ⚠
  • p.Arg81Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asn478Ser Single submitter Inborn genetic diseases ⚠
  • p.Glu349Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Glu395Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Gly263= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gly79Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His11Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His33Arg Single submitter Inborn genetic diseases ⚠
  • p.His52Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile206Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ile450Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile451Thr Single submitter PIGA-related disorder ⚠
  • p.Leu83Pro Single submitter paroxysmal nocturnal hemoglobinuria 1 ⚠
  • p.Lys293Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Lys78Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Phe140= Single submitter Inborn genetic diseases
  • p.Ser21Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser449Cys Single submitter Inborn genetic diseases ⚠
  • p.Thr123Met Single submitter PIGA-related disorder ⚠
  • p.Val329Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠

Benign 21

  • c.1188+53C>T Multiple submitters
  • c.849-23T>C Multiple submitters
  • c.-63+140C>G Multiple submitters
  • c.*40G>A Multiple submitters
  • p.Arg19Trp Multiple submitters Inborn genetic diseases
  • c.1188+159C>T Single submitter
  • c.715+168C>A Single submitter
  • c.716-2317A>G Single submitter
  • c.716-2392T>A Single submitter
  • c.716-27C>A Single submitter
  • c.849-129_849-128dup Single submitter
  • c.849-20C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.-427G>C Single submitter
  • p.Arg12Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Asp40= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Glu476Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ile380Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu250Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ser164= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ser354= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr84Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠

Benign/Likely benign 19

  • c.716-10A>G Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.981+8G>A Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.-63+13C>T Multiple submitters
  • c.*7G>T Multiple submitters
  • p.Ala103Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ala405Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Arg31His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gly474Arg Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gly474Val Multiple submitters Inborn genetic diseases
  • p.His128= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ile228Val Multiple submitters Inborn genetic diseases
  • p.Leu175= Multiple submitters Inborn genetic diseases
  • p.Lys293= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Lys396= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Lys66= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr123= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr32= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Tyr468Cys Multiple submitters Inborn genetic diseases
  • p.Tyr91= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2

Likely benign 108

  • c.716-172G>T Multiple submitters
  • c.848+17T>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.-63+18C>T Multiple submitters
  • c.-63+8C>T Multiple submitters
  • c.-75A>G Multiple submitters
  • p.Asp153= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Asp456= Multiple submitters Inborn genetic diseases
  • p.Glu291= Multiple submitters Inborn genetic diseases
  • p.Gly462= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu431= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Phe436= Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr152= Multiple submitters Inborn genetic diseases
  • c.1188+14T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.1188+20A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.1189-17G>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.715+18A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.715+273A>G Single submitter
  • c.715+7A>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.716-14C>G Single submitter
  • c.716-15A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.716-2322C>T Single submitter
  • c.716-4del Single submitter
  • c.848+15C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.848+20T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.848+20T>C Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.848+294C>A Single submitter
  • c.848+4T>C Single submitter
  • c.849-10A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.849-15C>T Single submitter
  • c.849-16_849-15del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.981+11T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.981+18C>T Single submitter
  • c.981+9C>T Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.982-17CTTT[2] Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.982-4T>A Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.982-4T>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.982-7T>C Single submitter
  • c.982-9C>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.982-9del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.-62-278T>C Single submitter
  • c.-63+17C>T Single submitter
  • c.-63+3G>A Single submitter
  • c.-63+7G>A Single submitter
  • c.-63+8C>A Single submitter
  • c.-63+9G>T Single submitter
  • c.-74T>A Single submitter
  • c.-91C>G Single submitter
  • c.-9del Single submitter
  • c.*286_*288del Single submitter
  • c.*85del Single submitter
  • p.Ala133= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ala197= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ala209= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Arg400= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Arg412= Single submitter
  • p.Arg473= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Asn478Lys Single submitter
  • p.Asp224= Single submitter
  • p.Gln100= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gln365= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Glu320= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Glu349= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Glu395= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gly146= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gly288= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gly474= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gly48= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.His141= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.His72= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ile318= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ile450= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu113= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu139= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu147= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu271= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu310= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu359= Single submitter
  • p.Leu407= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Leu437= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Met97Ile Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Pro111= Single submitter
  • p.Pro217= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Pro219= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Pro248= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Pro44= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Pro93= Single submitter
  • p.Ser129= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ser130= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ser18Tyr Single submitter Inborn genetic diseases
  • p.Ser204= Single submitter
  • p.Ser244= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ser309= Single submitter Inborn genetic diseases
  • p.Thr104= Single submitter
  • p.Thr149= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr16= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr27Ala Single submitter
  • p.Thr308= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr383= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr446= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr71= Single submitter
  • p.Thr84= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Tyr254= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Val173= Single submitter
  • p.Val284= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Val328= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Val381= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.-64C>T No assertion criteria PIGA-related disorder
  • p.Val96Ala No assertion criteria intellectual disability

Uncertain significance 180

  • c.982-3A>C Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ala289Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala457Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg285Cys Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg285His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg393Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg400Gln Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg473Thr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asn34Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn467del Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Asp161Tyr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asp214His Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Asp241Asn Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Gly10Asp Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His136Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His180Tyr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile363Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu25Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu439Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu83Val Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Lys189Glu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Met409Lys Multiple submitters
  • p.Phe131Tyr Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Pro341Leu Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Pro350Ser Multiple submitters paroxysmal nocturnal hemoglobinuria 1 ⚠
  • p.Ser101Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ser323Asn Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ser402Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Thr172Ala Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Val173Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val205Ile Multiple submitters Neurodevelopmental abnormality
  • p.Val319Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val401Ile Multiple submitters multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • c.1188+3A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.1188+482T>C Single submitter
  • c.715+2559del Single submitter
  • c.716-11T>A Single submitter
  • c.716-9T>A Single submitter intellectual disability
  • c.981+3A>G Single submitter
  • c.981+4A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.981+5A>G Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • c.-66A>T Single submitter
  • c.-69C>T Single submitter
  • c.-74T>G Single submitter Inborn genetic diseases
  • c.-75A>C Single submitter
  • c.-75A>T Single submitter
  • p.Ala15Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ala196Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ala405Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ala463Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ala73Pro Single submitter ⚠
  • p.Ala7Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg114Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg221Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg277Ser Single submitter
  • p.Arg29Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg31Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg388Gly Single submitter ⚠
  • p.Arg484fs Single submitter
  • p.Asn343Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asn376Ser Single submitter PIGA-related disorder ⚠
  • p.Asn379Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asn477Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asn76Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asn99His Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asn99Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asn9Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asp177Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asp224Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Asp294Gly Single submitter ⚠
  • p.Asp294Tyr Single submitter ⚠
  • p.Asp414Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp414His Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Cys176Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Gln100His Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Gln148Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Gln252Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Glu190Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Glu264Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Glu395Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Glu476Gly Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Gly146Arg Single submitter ⚠
  • p.Gly325Asp Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Gly421Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Gly475Val Single submitter Inborn genetic diseases ⚠
  • p.Gly8Glu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His108Asn Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His141Tyr Single submitter ⚠
  • p.His303Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His303Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His378_Ile380del Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.His419Gln Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His419Tyr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.His72Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile116Met Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Ile124Lys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile181Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile182Thr Single submitter ⚠
  • p.Ile226Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile226Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile261Met Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile35Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile377Met Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile440Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile455Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile61Thr Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ile80Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu106Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu110Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu17Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu250Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu344Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu344Pro Single submitter ⚠
  • p.Leu355Met Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu355Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu94Pro Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Lys253Glu Single submitter ⚠
  • p.Lys88Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Met134Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Met145Thr Single submitter ⚠
  • p.Met145Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Met409Val Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Met46Thr Single submitter ⚠
  • p.Met97Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Met97Thr Single submitter
  • p.Phe215Val Single submitter ⚠
  • p.Phe259Cys Single submitter ⚠
  • p.Phe364Leu Single submitter ⚠
  • p.Pro111Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Pro200Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Pro255Leu Single submitter ⚠
  • p.Pro372Leu Single submitter ⚠
  • p.Pro408_Asp410delinsLeuProLeuIleAsn Single submitter
  • p.Pro408Arg Single submitter ⚠
  • p.Pro408Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro408Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Pro422= Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Pro422Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Pro44Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ser109Gly Single submitter ⚠
  • p.Ser21Asn Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ser21Ile Single submitter ⚠
  • p.Ser232Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Ser354Tyr Single submitter ⚠
  • p.Ser481Thr Single submitter ⚠
  • p.Ser57Cys Single submitter ⚠
  • p.Thr102Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Thr102Ile Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Thr144Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Thr149Ile Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Thr167Ala Single submitter ⚠
  • p.Thr16Ile Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Thr227Ser Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Thr483Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Trp387Arg Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Trp444Cys Single submitter ⚠
  • p.Tyr186Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2
  • p.Tyr236Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Tyr254Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Tyr43Cys Single submitter ⚠
  • p.Tyr90Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Tyr91Cys Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Val150Phe Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Val20Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Val231del Single submitter
  • p.Val298Phe Single submitter ⚠
  • p.Val300Ile Single submitter ⚠
  • p.Val328Ala Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Val38Ile Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Val401Glu Single submitter ⚠
  • p.Val401Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Val96Leu Single submitter multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Arg222Lys No assertion criteria ⚠
  • p.Gly48Ser No assertion criteria paroxysmal nocturnal hemoglobinuria 1 ⚠
  • p.Ile304Val No assertion criteria PIGA-related disorder ⚠
  • p.Leu344Val No assertion criteria PIGA-related disorder ⚠
  • p.Leu56Pro No assertion criteria paroxysmal nocturnal hemoglobinuria 1 ⚠
  • p.Leu56Val No assertion criteria multiple congenital anomalies-hypotonia-seizures syndrome 2 ⚠
  • p.Leu60Val No assertion criteria intellectual disability ⚠