"SMARCC2-related neurodevelopmental disorder"[Disease/phenotype] AND " - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989296	NM_001330288.2(SMARCC2):c.3008T>A (p.Ile1003Asn)	SMARCC2 (I1003N +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related neurodevelopmental disorder	GUncertain significance
Select item 1328140	NM_001330288.2(SMARCC2):c.441A>C (p.Glu147Asp)	SMARCC2 (E147D)	Single nucleotide variant (missense variant)	SMARCC2-related neurodevelopmental disorder	GUncertain significance