A total 11 pathogenic variants reported in gene polypeptide N-acetylgalactosaminyltransferase 2 (GALNT2)

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004481.5(GALNT2):c.1010-4T>C	SNV Germline	Chr1:230255214	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1446381	rs_370362368	2 SubmittersRCV000899300 RCV002540187
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)	SNV Germline	Chr1:230203227	Likely pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter	CA345176757	rs_1663960324	2 SubmittersRCV001095796
NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)	SNV Germline	Chr1:230249231	Pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter	CA345184941	rs_1665467473	3 SubmittersRCV001095797
NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)	SNV Germline	Chr1:230236716	Pathogenic	Congenital disorder of glycosylation, type iit Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345181793	rs_1431963909	3 SubmittersRCV001095798 RCV003442203
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)	SNV Germline	Chr1:230243327	Likely pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter	CA345183300	rs_376870425	2 SubmittersRCV001095800
NM_004481.5(GALNT2):c.623G>A (p.Arg208Gln)	SNV Germline	Chr1:230243321	Likely pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter	CA345183272	rs_2102741708	1 SubmittersRCV001376175
NM_004481.5(GALNT2):c.648A>T (p.Gln216His)	SNV Germline	Chr1:230243346	Conflicting classifications of pathogenicity	Condition: not provided Congenital disorder of glycosylation, type iit	Criteria Provided Conflicting Classifications	CA1446241	rs_142046356	2 SubmittersRCV001424245 RCV002468246
NM_004481.5(GALNT2):c.450G>A (p.Ser150=)	SNV Germline	Chr1:230236089	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA1446132	rs_138909324	2 SubmittersRCV002205262
NM_004481.5(GALNT2):c.1076A>G (p.His359Arg)	SNV Germline	Chr1:230255284	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA345186896	rs_2527616593	1 SubmittersRCV002292760
NM_004481.5(GALNT2):c.691G>T (p.Glu231Ter)	SNV Germline	Chr1:230243389	Likely pathogenic	Congenital disorder of glycosylation, type iit	Criteria Provided Single Submitter			1 SubmittersRCV006635722