ClinVar for MedGen (Select 69171) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598975	NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp)	SYNE2 (G6542W +3 more)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 598974	NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)	RYR1 (R3366L)	Single nucleotide variant (missense variant)	Obesity +12 more	GConflicting classifications of pathogenicity
Select item 267830	46;X;t(X;5)(q24;q13)dn		Translocation	Growth delay +20 more	GPathogenic

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