"Mendelics"[submitter] AND "OBSL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288014	NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln)	OBSL1 (R1767Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 496928	NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)	OBSL1 (Q1578*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 801901	NM_015311.3(OBSL1):c.1534+5G>C	OBSL1	Single nucleotide variant (intron variant)	3M syndrome 2	GConflicting classifications of pathogenicity

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