ClinVar for MedGen (Select 419310) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1933955	NM_001497.4(B4GALT1):c.716A>G (p.Tyr239Cys)	B4GALT1 (Y239C +1 more)	Single nucleotide variant (missense variant +1 more)	B4GALT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1031989	NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile)	B4GALT1 (V258I +1 more)	Single nucleotide variant (missense variant +1 more)	B4GALT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 998094	NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)	B4GALT1, B4GALT1-AS1 (R8W)	Single nucleotide variant (missense variant)	B4GALT1-congenital disorder of glycosylation	GUncertain significance
Select item 998093	NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter)	B4GALT1 (Y180*)	Single nucleotide variant (nonsense)	B4GALT1-congenital disorder of glycosylation	GPathogenic
Select item 802478	NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr)	B4GALT1, B4GALT1-AS1 (R2T)	Single nucleotide variant (missense variant)	B4GALT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 719722	NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)	B4GALT1 (P87S +1 more)	Single nucleotide variant (missense variant)	B4GALT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 676106	NM_001497.4(B4GALT1):c.648+102C>T	B4GALT1	Single nucleotide variant (intron variant)	B4GALT1-congenital disorder of glycosylation +1 more	GBenign
Select item 366662	NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu)	B4GALT1 (P131L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 366655	NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=)	B4GALT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 93779	NM_001497.4(B4GALT1):c.597C>T (p.His199=)	B4GALT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 16229	NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)	B4GALT1 (R345fs +2 more)	Duplication (frameshift variant +1 more)	B4GALT1-congenital disorder of glycosylation	GPathogenic