Related gene-specific medical variations for Gene (Select 55010) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215791	NM_002674.4(PMCH):c.462G>T (p.Met154Ile)	PARPBP, PMCH (M154I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281327	NM_002674.4(PMCH):c.370G>A (p.Glu124Lys)	PARPBP, PMCH (E124K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710175	NM_002674.4(PMCH):c.399G>T (p.Gly133=)	PARPBP, PMCH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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