ClinVar for MedGen (Select 66816) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 431465	NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)	SMCHD1 (F171V)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GUncertain significance
Select item 281944	NM_032551.5(KISS1R):c.890G>T (p.Arg297Leu)	KISS1R (R297L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance