"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SMARCC2"[g - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2643069	NM_001330288.2(SMARCC2):c.3699G>A (p.Pro1233=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643070	NM_001330288.2(SMARCC2):c.3591C>T (p.Ala1197=)	SMARCC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2643071	NM_001330288.2(SMARCC2):c.3527C>G (p.Pro1176Arg)	SMARCC2 (P1145R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643072	NM_001330288.2(SMARCC2):c.3513G>A (p.Ala1171=)	SMARCC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2349090	NM_001330288.2(SMARCC2):c.3430C>G (p.Pro1144Ala)	SMARCC2 (P1144A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1675503	NM_001330288.2(SMARCC2):c.3354T>G (p.Pro1118=)	SMARCC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1711343	NM_001330288.2(SMARCC2):c.3351G>A (p.Pro1117=)	SMARCC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234282	NM_001330288.2(SMARCC2):c.3265C>T (p.Pro1089Ser)	SMARCC2 (P1058S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2643073	NM_001330288.2(SMARCC2):c.3233-3C>T	SMARCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1012821	NM_001330288.2(SMARCC2):c.3210_3211insAAG (p.Gly1070_Val1071insLys)	SMARCC2	Insertion (inframe_insertion)	not provided	GLikely pathogenic
Select item 3234219	NM_001330288.2(SMARCC2):c.2919G>A (p.Ala973=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643074	NM_001330288.2(SMARCC2):c.2880C>T (p.Ala960=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 976148	NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly)	SMARCC2 (E893G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GLikely pathogenic
Select item 2570834	NM_001330288.2(SMARCC2):c.2765T>C (p.Leu922Pro)	SMARCC2 (L891P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643075	NM_001330288.2(SMARCC2):c.2523C>T (p.Ser841=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 806900	NM_001330288.2(SMARCC2):c.2464A>G (p.Ser822Gly)	SMARCC2 (S791G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643076	NM_001330288.2(SMARCC2):c.2440G>C (p.Glu814Gln)	SMARCC2 (E783Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498562	NM_001330288.2(SMARCC2):c.2340G>C (p.Glu780Asp)	SMARCC2 (E749D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643077	NM_001330288.2(SMARCC2):c.2022C>A (p.Pro674=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067660	NM_001330288.2(SMARCC2):c.1958_1959del (p.Lys653fs)	SMARCC2 (K622fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1879238	NM_001330288.2(SMARCC2):c.1926G>A (p.Glu642=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2643078	NM_001330288.2(SMARCC2):c.1626G>A (p.Val542=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643079	NM_001330288.2(SMARCC2):c.1512A>G (p.Leu504=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643080	NM_001330288.2(SMARCC2):c.1461C>T (p.Arg487=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643081	NM_001330288.2(SMARCC2):c.1428C>T (p.Asn476=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643082	NM_001330288.2(SMARCC2):c.1311-11T>G	SMARCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1336447	NM_001330288.2(SMARCC2):c.1158A>G (p.Glu386=)	SMARCC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2643083	NM_001330288.2(SMARCC2):c.1032C>T (p.Asp344=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643084	NM_001330288.2(SMARCC2):c.1015C>G (p.Leu339Val)	SMARCC2 (L339V)	Single nucleotide variant (missense variant)	SMARCC2-related condition +1 more	GLikely benign
Select item 1176946	NM_001330288.2(SMARCC2):c.887A>G (p.Tyr296Cys)	SMARCC2 (Y296C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675504	NM_001330288.2(SMARCC2):c.345A>G (p.Ser115=)	SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027197	NM_001330288.2(SMARCC2):c.319C>T (p.Arg107Trp)	SMARCC2 (R107W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879239	NM_001330288.2(SMARCC2):c.163C>T (p.Gln55Ter)	SMARCC2 (Q55*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2643086	NM_001330288.2(SMARCC2):c.111G>A (p.Lys37=)	LOC130008058, SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643085	NM_001330288.2(SMARCC2):c.111G>C (p.Lys37Asn)	LOC130008058, SMARCC2 (K37N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643087	NM_001330288.2(SMARCC2):c.81G>A (p.Val27=)	LOC130008058, SMARCC2	Single nucleotide variant (synonymous variant)	SMARCC2-related condition +1 more	GBenign
Select item 2643088	NM_001330288.2(SMARCC2):c.60C>G (p.Thr20=)	LOC130008058, SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 37