ClinVar for MedGen (Select 419310) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24394621.	NM_001497.4(B4GALT1):c.487A>G (p.Met163Val) GRCh37: Chr9:33135348 GRCh38: Chr9:33135350	B4GALT1	M150V, M163V	B4GALT1-congenital disorder of glycosylation	Uncertain significance (Nov 16, 2020)	criteria provided, single submitter
Select item 10319892.	NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile) GRCh37: Chr9:33120442 GRCh38: Chr9:33120444	B4GALT1	V258I, V271I	not provided, B4GALT1-congenital disorder of glycosylation	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9980943.	NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp) GRCh37: Chr9:33167107 GRCh38: Chr9:33167109	B4GALT1, B4GALT1-AS1	R8W	B4GALT1-congenital disorder of glycosylation	Uncertain significance (Apr 10, 2018)	criteria provided, single submitter
Select item 9980934.	NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter) GRCh37: Chr9:33135256 GRCh38: Chr9:33135258	B4GALT1	Y180*	B4GALT1-congenital disorder of glycosylation	Pathogenic (Mar 2, 2021)	no assertion criteria provided
Select item 8024785.	NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr) GRCh37: Chr9:33167163 GRCh38: Chr9:33167165	B4GALT1, B4GALT1-AS1	R2T	not provided, B4GALT1-congenital disorder of glycosylation	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7197226.	NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser) GRCh37: Chr9:33166909 GRCh38: Chr9:33166911	B4GALT1	P87S, P74S	not specified, not provided, B4GALT1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jun 7, 2023)	criteria provided, conflicting interpretations
Select item 6761067.	NM_001497.4(B4GALT1):c.648+102C>T GRCh37: Chr9:33135085 GRCh38: Chr9:33135087	B4GALT1		not provided, B4GALT1-congenital disorder of glycosylation	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3666628.	NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu) GRCh37: Chr9:33166776 GRCh38: Chr9:33166778	B4GALT1	P131L, P118L	Congenital disorder of glycosylation, not specified, not provided, B4GALT1-congenital disorder of glycosylation	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3666559.	NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=) GRCh37: Chr9:33113786 GRCh38: Chr9:33113788	B4GALT1		not provided, not specified, B4GALT1-congenital disorder of glycosylation	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9377910.	NM_001497.4(B4GALT1):c.597C>T (p.His199=) GRCh37: Chr9:33135238 GRCh38: Chr9:33135240	B4GALT1		not provided, not specified, B4GALT1-congenital disorder of glycosylation	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1622911.	NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs) GRCh37: Chr9:33113804-33113805 GRCh38: Chr9:33113806-33113807	B4GALT1	R345fs, R304fs, R332fs	B4GALT1-congenital disorder of glycosylation	Pathogenic (Mar 1, 2002)	no assertion criteria provided