"Invitae"[submitter] AND "CYP8B1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769272	NM_004391.3(CYP8B1):c.1204G>A (p.Val402Ile)	CYP8B1 (V402I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718608	NM_004391.3(CYP8B1):c.1071C>T (p.Leu357=)	CYP8B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780380	NM_004391.3(CYP8B1):c.1069C>T (p.Leu357Phe)	CYP8B1 (L357F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770520	NM_004391.3(CYP8B1):c.798G>T (p.Gly266=)	CYP8B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785046	NM_004391.3(CYP8B1):c.713A>G (p.Lys238Arg)	CYP8B1 (K238R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710919	NM_004391.3(CYP8B1):c.430C>T (p.Leu144=)	CYP8B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	POMGNT2, SEC22C +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance

ClinVar