"GeneDx"[submitter] AND "B4GALT1-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +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	GLikely benign
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 +1 more	GUncertain significance
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 510082	NM_001497.4(B4GALT1):c.-35G>T	B4GALT1, B4GALT1-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1326049	NM_001497.4(B4GALT1):c.-101C>T	B4GALT1, B4GALT1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

ClinVar