Sugi Variant

Sugi Variant/NAGA

NAGA — 320 ClinVar variants

All ClinVar germline NAGA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

19 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 10 Conflicting · 27 Benign · 3 Benign/Likely benign · 154 Likely benign · 93 Uncertain significance

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

⚑ Evidence disagreements 68

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 2

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

Predictors lean, ClinVar uncertain 51

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

Predictors split 15

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

All NAGA variants

Pathogenic 19

  • p.Gln292Ter Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asn214Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp107_Tyr108insTer Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Cys343Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gln219Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gln24Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gln265Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ile305fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu135fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu280fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu323fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Met253fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Trp212Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Trp222Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Trp223fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Tyr108Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Tyr119fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Tyr202_Ser203delinsTer Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Tyr349Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1

Pathogenic/Likely pathogenic 2

  • c.759+1_759+8del Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Trp148Ter Multiple submitters alpha-N-acetylgalactosaminidase deficiency

Likely pathogenic 12

  • c.1101+1G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.16+1G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.322_324+9del Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.325-1G>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.598-1G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.949_957+8del Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.957+2T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg329Trp Single submitter alpha-N-acetylgalactosaminidase deficiency
  • p.Leu280Phe Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Trp189Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Tyr202Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Tyr372fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 2

Conflicting classifications of pathogenicity 10

  • p.Ala206= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg329Gln Single submitter alpha-N-acetylgalactosaminidase deficiency type 2 ⚠
  • p.Asp136Asn Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Gln298Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Glu325Lys Single submitter Fetal anomalies with a likely genetic cause ⚠
  • p.Ile183= Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Ile403= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu331= Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Lys4= Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Pro162= Single submitter alpha-N-acetylgalactosaminidase deficiency type 2

Benign 27

  • c.1101+54G>C Multiple submitters
  • c.1102-44C>A Multiple submitters
  • c.598-15C>T Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • c.760-79G>A Multiple submitters
  • c.760-7C>A Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • c.957+4C>G Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • c.-208G>C Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • c.-604G>A Multiple submitters
  • c.*1035G>A Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1103T>C Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • c.*12A>C Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1333T>C Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*143C>T Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1929C>T Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Pro93= Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1101+238C>G Single submitter
  • c.1102-56G>C Single submitter
  • c.1102-61dup Single submitter
  • c.759+293A>G Single submitter
  • c.759+306C>G Single submitter
  • c.957+146T>C Single submitter
  • c.957+268C>G Single submitter
  • c.-649G>A Single submitter
  • c.-679T>A Single submitter
  • c.*1696C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1814C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Leu280Ile Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠

Benign/Likely benign 3

  • c.*161T>C Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*170G>A Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Leu9= Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1

Likely benign 154

  • c.*1930G>A Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*555C>T Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Ala120= Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp382= Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu153= Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu263Ile Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Phe232= Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Thr274= Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1101+10C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1101+10C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1101+11G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1101+11G>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1101+144C>G Single submitter
  • c.1102-10C>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1102-14C>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1102-18T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1102-55_1102-54dup Single submitter
  • c.1102-6C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1102-7A>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1102-8C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1102-9C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.1102-9C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.152+12C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.152+16A>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.152+16A>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.152+17C>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.152+9G>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.153-16C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.153-6C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.153-9C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.16+12G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.16+16G>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.16+19G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.16+8C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.17-12C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.17-19C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.17-4C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.17-5C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.324+15A>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.324+17C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.324+7C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.325-15C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.325-19T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.325-20dup Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.325-21_325-3del Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.325-5C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.502+10G>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.502+16G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.502+17G>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.502+18C>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.502+19T>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.502+8A>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.502+9C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.597+17C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.597+7C>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.598-10C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.598-17T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.598-18C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.598-20G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.598-5T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.598-9G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.759+10T>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.759+11G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.759+14G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.759+15G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.759+18G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.760-13T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.760-17_760-15del Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.760-17C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.760-5C>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.760-6C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.760-9T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.957+13G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.957+16G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.957+17G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.957+7G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.957+9G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.958-12T>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.958-14C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.958-16C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.958-20T>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.958-6G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.958-7T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.958-8G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.*1311T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Ala146= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ala166= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ala243= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ala278= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ala368= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ala63= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg181= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg199= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg267= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg37= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg90= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg97= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asn258= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asn293= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asn306= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp156= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp19= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp216= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp217= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp220= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp370= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp43= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp78= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gln292= Single submitter
  • p.Gln298= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gln313= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gln411= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Glu234= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Glu52= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gly195= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gly244= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gly260= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Gly394= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ile289= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ile324= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ile376= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ile82= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu226= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu229= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu255= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu272= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu280= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu281= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu301= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu310= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu323= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Leu338= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Lys47= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Phe104= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Phe145= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Pro197= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Pro251= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Pro279= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser111= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser224= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser266= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser283= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser290= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser336= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser363= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser378= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Thr161= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Thr284= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Thr345= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Thr361= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Tyr169= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Tyr366= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Tyr399= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Val225= Single submitter alpha-N-acetylgalactosaminidase deficiency type 1

Uncertain significance 93

  • p.Ala268Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala291Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg165Trp Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2 ⚠
  • p.Arg181Cys Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Arg213His Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2 ⚠
  • p.Arg37His Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Asn391Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp216Asn Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 2 ⚠
  • p.Gly244Ser Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Met328Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro198Ser Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Pro309Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Trp273Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr108= Multiple submitters alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Val233Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val371Ile Multiple submitters Inborn genetic diseases ⚠
  • c.759+17G>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.-43C>T Single submitter
  • c.-496G>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.-502A>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.*107G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1090G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1252T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1299C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1484A>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1501C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1555C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*155A>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1724C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.*176C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*1789del Single submitter
  • c.*1862C>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*268G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*55C>T Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • c.*572G>A Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*730T>C Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • c.*926C>G Single submitter alpha-N-acetylgalactosaminidase deficiency type 2
  • p.Ala271Val Single submitter Inborn genetic diseases ⚠
  • p.Ala278Val Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Ala337Thr Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Arg267Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg267Gly Single submitter Inborn genetic diseases
  • p.Arg287Cys Single submitter alpha-N-acetylgalactosaminidase deficiency type 2 ⚠
  • p.Arg316Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg381Gln Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Arg381Ter Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Arg97Gly Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Asn249Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn306Ile Single submitter arthrogryposis multiplex congenita ⚠
  • p.Asn391Thr Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Asp346Asn Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Asp375His Single submitter Inborn genetic diseases ⚠
  • p.Cys209Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln236Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln240Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu163Lys Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Glu164Ala Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Glu320Val Single submitter Inborn genetic diseases
  • p.Gly113Cys Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Gly257Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly356Ser Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Gly362Arg Single submitter ⚠
  • p.Gly362Glu Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Gly374Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly379Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile118Val Single submitter Inborn genetic diseases ⚠
  • p.Ile238Val Single submitter Inborn genetic diseases ⚠
  • p.Ile289Val Single submitter Inborn genetic diseases ⚠
  • p.Ile365_Tyr366insTer Single submitter
  • p.Ile365Met Single submitter Inborn genetic diseases ⚠
  • p.Ile376Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile403Thr Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Leu105Gln Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Leu239Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu254Met Single submitter ⚠
  • p.Leu280Val Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Leu2Met Single submitter Inborn genetic diseases ⚠
  • p.Leu31Val Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Leu338Ser Single submitter Inborn genetic diseases ⚠
  • p.Met294Ile Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Met294Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro103Arg Single submitter ⚠
  • p.Ser378Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser378Gly Single submitter ⚠
  • p.Ser409fs Single submitter alpha-N-acetylgalactosaminidase deficiency type 1
  • p.Ser409Thr Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • p.Thr284Ala Single submitter alpha-N-acetylgalactosaminidase deficiency type 2 ⚠
  • p.Tyr349Phe Single submitter Inborn genetic diseases ⚠
  • p.Tyr366His Single submitter Inborn genetic diseases ⚠
  • p.Val225Met Single submitter alpha-N-acetylgalactosaminidase deficiency type 2 ⚠
  • p.Val395Leu Single submitter Inborn genetic diseases ⚠
  • p.Val6Met Single submitter alpha-N-acetylgalactosaminidase deficiency type 1 ⚠
  • c.17-268_17-247dup No assertion criteria NAGA-related disorder