ClinVar for OMIM (Select 179512) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 253153	NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp)	SAMD9 (R1293W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 253151	NM_017654.4(SAMD9):c.1376G>A (p.Arg459Gln)	SAMD9 (R459Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 253148	NM_015164.4(PLEKHM2):c.1932_1933del (p.Lys645fs)	PLEKHM2 (K645fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance

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