"Blueprint Genetics"[submitter] AND "OBSL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 729741	NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)	OBSL1 (E1651*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897725	NM_015311.3(OBSL1):c.2791T>G (p.Trp931Gly)	OBSL1 (W931G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1224431	NM_015311.3(OBSL1):c.2042T>C (p.Leu681Pro)	OBSL1 (L681P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224432	NM_015311.3(OBSL1):c.1479C>T (p.Gly493=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 334535	NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly)	OBSL1 (D186G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1224406	NM_015311.3(OBSL1):c.241del (p.Val81fs)	OBSL1 (V81fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 976857	NM_015311.3(OBSL1):c.35dup (p.Cys13fs)	OBSL1 (C13fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar