Related gene-specific medical variations for Gene (Select 2683) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052091	NM_001497.4(B4GALT1):c.-6G>A	B4GALT1, B4GALT1-AS1	Single nucleotide variant (5 prime UTR variant)	B4GALT1-related condition	GLikely benign
Select item 3052014	NM_001497.4(B4GALT1):c.39G>T (p.Ala13=)	B4GALT1, B4GALT1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	B4GALT1-related condition	GLikely benign
Select item 2487072	NM_001497.4(B4GALT1):c.112C>T (p.Leu38Phe)	B4GALT1, B4GALT1-AS1 (L38F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482596	NM_001497.4(B4GALT1):c.50C>T (p.Ala17Val)	B4GALT1, B4GALT1-AS1 (A17V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1718334	NM_001497.4(B4GALT1):c.28G>T (p.Gly10Cys)	B4GALT1, B4GALT1-AS1 (G10C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1593819	NM_001497.4(B4GALT1):c.96G>A (p.Leu32=)	B4GALT1, B4GALT1-AS1	Single nucleotide variant (synonymous variant)	B4GALT1-related condition +1 more	GLikely benign
Select item 1326049	NM_001497.4(B4GALT1):c.-101C>T	B4GALT1-AS1, B4GALT1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1305019	NM_001497.4(B4GALT1):c.10C>T (p.Arg4Trp)	B4GALT1, B4GALT1-AS1 (R4W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160331	NM_001497.4(B4GALT1):c.186C>G (p.Gly62=)	B4GALT1, B4GALT1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1154774	NM_001497.4(B4GALT1):c.180G>A (p.Leu60=)	B4GALT1, B4GALT1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 790066	NM_001497.4(B4GALT1):c.27C>A (p.Ser9Arg)	B4GALT1, B4GALT1-AS1 (S9R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 741565	NM_001497.4(B4GALT1):c.192G>A (p.Ser64=)	B4GALT1, B4GALT1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 741158	NM_001497.4(B4GALT1):c.54C>G (p.Ser18=)	B4GALT1, B4GALT1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 510082	NM_001497.4(B4GALT1):c.-35G>T	B4GALT1, B4GALT1-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 451077	NM_001497.4(B4GALT1):c.143G>A (p.Ser48Asn)	B4GALT1, B4GALT1-AS1 (S48N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 388727	NM_001497.4(B4GALT1):c.84C>T (p.Ala28=)	B4GALT1, B4GALT1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign