ClinVar for MedGen (Select 21583) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1178338	NM_003722.5(TP63):c.3G>T (p.Met1Ile)	TP63 (M1I)	Single nucleotide variant (missense variant +2 more)	Furrowed tongue	GLikely pathogenic
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +14 more	GConflicting classifications of pathogenicity