ClinVar for MedGen (Select 98042) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242884	NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)	RUBCN (E107K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242883	NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)	RUBCN (T503A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 68499	NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)	SCN1A (R356G)	Single nucleotide variant (missense variant +2 more)	Hip contracture +6 more	GUncertain significance

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