ClinVar for MedGen (Select 1709627) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442077	NM_004481.5(GALNT2):c.1372G>A (p.Asp458Asn)	GALNT2 (D420N +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GUncertain significance
Select item 1709528	NM_004481.5(GALNT2):c.460A>T (p.Arg154Trp)	GALNT2 (R116W +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GUncertain significance
Select item 1709527	NM_004481.5(GALNT2):c.449C>T (p.Ser150Leu)	GALNT2 (S112L +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GUncertain significance
Select item 1339903	NM_004481.5(GALNT2):c.526G>C (p.Asp176His)	GALNT2 (D138H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1101345	NM_004481.5(GALNT2):c.648A>T (p.Gln216His)	GALNT2 (Q178H +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit +1 more	GConflicting classifications of pathogenicity
Select item 1065626	NM_004481.5(GALNT2):c.623G>A (p.Arg208Gln)	GALNT2 (R170Q +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GLikely pathogenic
Select item 873548	NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)	GALNT2 (R210P +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GLikely pathogenic
Select item 873547	NM_004481.5(GALNT2):c.296dup (p.Tyr99Ter)	GALNT2 (Y61* +1 more)	Duplication (nonsense)	Congenital disorder of glycosylation, type iit	GPathogenic
Select item 873546	NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)	GALNT2 (R200* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type iit +1 more	GPathogenic
Select item 873545	NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)	GALNT2 (Q289* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type iit	GPathogenic
Select item 873544	NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)	GALNT2 (F104S +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type iit	GLikely pathogenic
Select item 785954	NM_004481.5(GALNT2):c.1077C>T (p.His359=)	GALNT2	Single nucleotide variant (synonymous variant)	GALNT2-related disorder +2 more	GBenign/Likely benign