Related gene-specific medical variations for Gene (Select 6597) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062125	NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)	SMARCA4 (L893R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 2682085	NM_003072.5(SMARCA4):c.843C>G (p.Pro281=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2682084	NM_003072.5(SMARCA4):c.4912-2A>C	SMARCA4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2682083	NM_003072.5(SMARCA4):c.4658T>C (p.Leu1553Ser)	SMARCA4 (L1519S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682081	NM_003072.5(SMARCA4):c.1743GAA[4] (p.Lys588_Ala589insLysLys)	SMARCA4	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2679018	NM_003072.5(SMARCA4):c.3774+2T>G	SMARCA4	Single nucleotide variant (splice donor variant)	Rhabdoid tumor predisposition syndrome 2	GLikely pathogenic
Select item 2679017	NM_003072.5(SMARCA4):c.1064del (p.Ile355fs)	SMARCA4 (I355fs)	Deletion (frameshift variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely pathogenic
Select item 2679016	NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)	SMARCA4 (L1285F)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679015	NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)	SMARCA4 (Q673E)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679014	NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)	SMARCA4 (P169A)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679012	NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)	SMARCA4 (I996L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679011	NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)	SMARCA4 (C1262Y)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679010	NM_003072.5(SMARCA4):c.3216-346C>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679007	NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)	SMARCA4 (A483V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679005	NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)	SMARCA4 (N854S)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 2679004	NM_003072.5(SMARCA4):c.2062A>T (p.Lys688Ter)	SMARCA4 (K688*)	Single nucleotide variant (nonsense +1 more)	Rhabdoid tumor predisposition syndrome 2	GLikely pathogenic
Select item 2663773	NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)	SMARCA4 (S1238A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 2433576	NM_003072.5(SMARCA4):c.2506-2A>G	SMARCA4	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 16	GLikely pathogenic
Select item 1809733	NM_003072.5(SMARCA4):c.2463G>C (p.Glu821Asp)	SMARCA4 (E821D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1809541	NM_003072.5(SMARCA4):c.4171-1849_4171-1754del	SMARCA4	Deletion (intron variant)	not provided	GUncertain significance
Select item 1728807	NM_001128849.1:c.-32+10362_35dup	SMARCA4	Duplication	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1696730	NM_003072.5(SMARCA4):c.3383-36C>T	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1693288	NM_003072.5(SMARCA4):c.2450A>T (p.Asn817Ile)	SMARCA4 (N817I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GUncertain significance
Select item 1676507	NM_001128849.3(SMARCA4):c.1930G>A (p.Glu644Lys)	SMARCA4 (E644K)	Single nucleotide variant	not provided	GUncertain significance
Select item 1319306	NM_003072.5(SMARCA4):c.4171-29G>C	SMARCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1219538	NM_003072.5(SMARCA4):c.-32+68G>A	LOC130063548, SMARCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 994292	NM_003072.5(SMARCA4):c.4311C>A (p.Ser1437Arg)	SMARCA4 (S1404R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 975170	NM_003072.5(SMARCA4):c.413G>T (p.Gly138Val)	SMARCA4 (G138V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 813690	NM_003072.5(SMARCA4):c.3698T>G (p.Met1233Arg)	SMARCA4 (M1233R)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 687440	GRCh37/hg19 19p13.2(chr19:11109514-11154117)x3	SMARCA4	Copy number gain	not provided	GUncertain significance
Select item 328016	NM_003072.5(SMARCA4):c.-43C>T	LOC130063547, SMARCA4	Single nucleotide variant (5 prime UTR variant +1 more)	Coffin-Siris syndrome +1 more	GLikely benign
Select item 328015	NM_003072.5(SMARCA4):c.-72C>T	LOC130063547, SMARCA4	Single nucleotide variant (5 prime UTR variant +1 more)	Coffin-Siris syndrome	GLikely benign
Select item 133383	NM_003072.5(SMARCA4):c.2617-110G>A	SMARCA4	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133382	NM_003072.5(SMARCA4):c.2617-224T>C	SMARCA4	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	Gnot provided

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Links from Gene

Items: 34