"Revvity Omics, Revvity"[submitter] AND "SMARCC2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690048	NM_001330288.2(SMARCC2):c.2620G>A (p.Gly874Arg)	SMARCC2 (G843R +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436135	NM_001330288.2(SMARCC2):c.2276A>G (p.Lys759Arg)	SMARCC2 (K728R +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436138	NM_001330288.2(SMARCC2):c.1839C>A (p.Tyr613Ter)	SMARCC2 (Y582* +1 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436137	NM_001330288.2(SMARCC2):c.1807A>G (p.Met603Val)	SMARCC2 (M572V +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436139	NM_001330288.2(SMARCC2):c.1496G>A (p.Arg499Lys)	SMARCC2 (R499K)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436136	NM_001330288.2(SMARCC2):c.1382+1G>A	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GConflicting classifications of pathogenicity
Select item 2436134	NM_001330288.2(SMARCC2):c.1193A>C (p.Asn398Thr)	SMARCC2 (N398T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436140	NM_001330288.2(SMARCC2):c.1172C>T (p.Thr391Met)	SMARCC2 (T391M)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance