ClinVar for MedGen (Select 75647) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707508	NM_014633.5(CTR9):c.85G>A (p.Glu29Lys)	CTR9 (E29K)	Single nucleotide variant (missense variant)	Limb undergrowth +7 more	GUncertain significance
Select item 1683711	NM_001378183.1(PIEZO2):c.64+1G>A	PIEZO2	Single nucleotide variant (splice donor variant)	Congenital ichthyosiform erythroderma +3 more	GLikely pathogenic