Related gene-specific medical variations for Gene (Select 6601) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067827	NM_001330288.2(SMARCC2):c.1181A>T (p.Asp394Val)	SMARCC2 (D394V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 3046502	NM_001330288.2(SMARCC2):c.99G>A (p.Lys33=)	LOC130008058, SMARCC2	Single nucleotide variant (synonymous variant)	SMARCC2-related disorder	GLikely benign
Select item 3029055	NM_001330288.2(SMARCC2):c.79G>T (p.Val27Leu)	LOC130008058, SMARCC2 (V27L)	Single nucleotide variant (missense variant)	SMARCC2-related disorder	GUncertain significance
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 2643088	NM_001330288.2(SMARCC2):c.60C>G (p.Thr20=)	LOC130008058, SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643087	NM_001330288.2(SMARCC2):c.81G>A (p.Val27=)	LOC130008058, SMARCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	SMARCC2, LOC130008058 (K37N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576084	NM_001330288.2(SMARCC2):c.3361C>T (p.Pro1121Ser)	SMARCC2 (P1090S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573052	NM_001330288.2(SMARCC2):c.3232G>A (p.Gly1078Ser)	SMARCC2 (G1047S +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
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 2436140	NM_001330288.2(SMARCC2):c.1172C>T (p.Thr391Met)	SMARCC2 (T391M)	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 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 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 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 2431451	NC_000012.12:g.(56167013_56168930)del	SMARCC2	Deletion	Coffin-Siris syndrome 8	GUncertain significance
Select item 1992356	NM_001330288.2(SMARCC2):c.1094_1097del (p.Lys365fs)	SMARCC2 (K365fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 1701781	NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr)	SMARCC2 (A1167T +1 more)	Single nucleotide variant (missense variant +1 more)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1701729	NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp)	SMARCC2 (A1002D +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1696500	NM_001330288.2(SMARCC2):c.111+2T>C	LOC130008058, SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1679607	NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro)	SMARCC2 (A1020P +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1342426	NM_001330288.2(SMARCC2):c.2716-3del	SMARCC2	Deletion (intron variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1315260	NM_001330288.2(SMARCC2):c.95G>C (p.Gly32Ala)	LOC130008058, SMARCC2 (G32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996943	NM_001330288.2(SMARCC2):c.1142-1G>C	SMARCC2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 996851	NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala)	SMARCC2 (V53A)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 987489	NM_001330288.2(SMARCC2):c.1972G>T (p.Val658Leu)	SMARCC2 (V627L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 979193	NM_001330288.2(SMARCC2):c.3366_3374dup (p.Pro1123_Pro1125dup)	SMARCC2	Duplication (inframe_insertion +1 more)	Coffin-Siris syndrome 8	GUncertain significance
Select item 931991	NM_001330288.2(SMARCC2):c.1926+1G>A	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 930686	NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser)	SMARCC2 (C145S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance

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Links from Gene

Items: 31