"Baylor Genetics"[submitter] AND "B4GALT7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 253109	NM_007255.3(B4GALT7):c.277dup (p.His93fs)	B4GALT7 (H93fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2441874	NM_007255.3(B4GALT7):c.667G>A (p.Gly223Ser)	B4GALT7 (G223S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1	GUncertain significance
Select item 389383	NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr)	B4GALT7 (A272T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1033201	NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp)	B4GALT7 (A320D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 625704	GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876)	B4GALT7, DBN1 +23 more	Copy number gain	not provided	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic

ClinVar