ClinVar for MedGen (Select 870513) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599002	NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)	NR2F1-AS1, NR2F1 (C89R)	Single nucleotide variant (missense variant)	Global developmental delay +13 more	GConflicting classifications of pathogenicity
Select item 523516	NM_015922.3(NSDHL):c.790-5G>T	NSDHL	Single nucleotide variant (intron variant)	Unilateral polymicrogyria +3 more	GUncertain significance