"Baylor Genetics"[submitter] AND "SMARCC2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029510	NM_001330288.2(SMARCC2):c.3224G>T (p.Gly1075Val)	SMARCC2 (G1075V +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1029509	NM_001330288.2(SMARCC2):c.2999C>T (p.Ser1000Phe)	SMARCC2 (S1000F +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GUncertain significance
Select item 1029508	NM_001330288.2(SMARCC2):c.2204A>G (p.Lys735Arg)	SMARCC2 (K735R +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 522824	NM_001330288.2(SMARCC2):c.1926+1G>T	SMARCC2	Single nucleotide variant (splice donor variant)	SMARCC2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1177371	NM_001330288.2(SMARCC2):c.1919T>C (p.Leu640Pro)	SMARCC2 (L609P +1 more)	Single nucleotide variant (missense variant)	SMARCC2-related BAFopathy	GPathogenic
Select item 2442001	NM_001330288.2(SMARCC2):c.1396C>T (p.Arg466Ter)	SMARCC2 (R466*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 1029506	NM_001330288.2(SMARCC2):c.1310+1G>T	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 1177370	NM_001330288.2(SMARCC2):c.888_889del (p.Tyr296_Lys297delinsTer)	SMARCC2	Microsatellite (nonsense)	SMARCC2-related BAFopathy	GLikely pathogenic
Select item 1177369	NM_001330288.2(SMARCC2):c.880_881del (p.Gly294fs)	SMARCC2 (G294fs)	Deletion (frameshift variant)	SMARCC2-related BAFopathy	GLikely pathogenic
Select item 1029507	NM_001330288.2(SMARCC2):c.137A>G (p.Asn46Ser)	SMARCC2 (N46S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance