"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "B9D1"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024937	NM_001321217.2(B9D1):c.530C>T (p.Ala177Val)	B9D1 (A177V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1013129	NM_015681.6(B9D1):c.547T>A (p.Tyr183Asn)	B9D1 (Y183N)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3025820	NM_015681.6(B9D1):c.472+71G>T	B9D1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 663790	NM_015681.6(B9D1):c.151T>C (p.Ser51Pro)	B9D1 (S51P)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	AKAP10, ALDH3A1 +44 more	Copy number loss	not provided	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic

ClinVar