ClinVar for Gene (Select 130006116) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502648	NC_000011.10:g.66347682GCCCGCC[6]	B4GAT1, LOC130006116	Microsatellite	not provided	GLikely benign
Select item 1269071	NC_000011.10:g.66347682GCCCGCC[4]	B4GAT1, LOC130006116	Microsatellite	not provided	GBenign
Select item 1222522	NC_000011.10:g.66347816G>C	B4GAT1, LOC130006116	Single nucleotide variant	not provided	GBenign
Select item 1183271	NC_000011.10:g.66347796G>T	B4GAT1, LOC130006116	Single nucleotide variant	not provided	GLikely benign
Select item 678225	NM_006876.2(B4GAT1):c.-248C>T	B4GAT1, LOC130006116	Single nucleotide variant	not provided	GBenign
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic

ClinVar