ClinVar for MedGen (Select 75614) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 492997	NM_005027.4(PIK3R2):c.2093A>C (p.His698Pro)	PIK3R2 (H698P)	Single nucleotide variant (missense variant +1 more)	Choreoathetosis +2 more	GUncertain significance
Select item 267797	46;XX;inv(2)(p11q13)dn		Inversion	Persistent open anterior fontanelle +9 more	GUncertain significance
Select item 89947	NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	MLH1 (N64S)	Single nucleotide variant (missense variant +2 more)	Muir-Torré syndrome +10 more	GConflicting classifications of pathogenicity

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