ClinVar (all) for Orgtrack (Select 509467) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024163	NM_018344.6(SLC29A3):c.2T>A (p.Met1Lys)	SLC29A3 (M1K)	Single nucleotide variant (missense variant +2 more)	H syndrome	GLikely pathogenic
Select item 3024162	NM_001031710.3(KLHL7):c.254T>G (p.Val85Gly)	KLHL7 (V37G +1 more)	Single nucleotide variant (missense variant +1 more)	PERCHING syndrome	GUncertain significance