"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SMARCA4"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694888	NM_003072.5(SMARCA4):c.-32+29C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 212233	NM_003072.5(SMARCA4):c.120C>T (p.His40=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +5 more	GBenign/Likely benign
Select item 380632	NM_003072.5(SMARCA4):c.222+18C>T	SMARCA4	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 238395	NM_003072.5(SMARCA4):c.223-7C>G	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome +4 more	GConflicting classifications of pathogenicity
Select item 212239	NM_003072.5(SMARCA4):c.223-5C>T	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome +5 more	GConflicting classifications of pathogenicity
Select item 415145	NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 415068	NM_003072.5(SMARCA4):c.417G>A (p.Pro139=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 238476	NM_003072.5(SMARCA4):c.459G>A (p.Pro153=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +4 more	GBenign/Likely benign
Select item 2649308	NM_003072.5(SMARCA4):c.462G>A (p.Leu154=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 135251	NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser)	SMARCA4 (P197S)	Single nucleotide variant (missense variant +1 more)	Coffin-Siris syndrome +5 more	GBenign
Select item 470439	NM_003072.5(SMARCA4):c.591C>T (p.Pro197=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 484990	NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val)	SMARCA4 (A203V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2649309	NM_003072.5(SMARCA4):c.610G>T (p.Val204Leu)	SMARCA4 (V204L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 238511	NM_003072.5(SMARCA4):c.690C>T (p.Pro230=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 415106	NM_003072.5(SMARCA4):c.696T>C (p.Pro232=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 643768	NM_003072.5(SMARCA4):c.722_733dup (p.229GP[10])	SMARCA4	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 415125	NM_003072.5(SMARCA4):c.726C>T (p.Pro242=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 238519	NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +6 more	GBenign/Likely benign
Select item 422533	NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)	SMARCA4 (M260L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 221046	NM_003072.5(SMARCA4):c.859+7T>A	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 470468	NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)	SMARCA4 (P305L)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 823280	NM_003072.5(SMARCA4):c.948T>A (p.Pro316=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 415117	NM_003072.5(SMARCA4):c.951C>T (p.Ala317=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 470473	NM_003072.5(SMARCA4):c.969G>C (p.Ser323=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 212262	NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 238537	NM_003072.5(SMARCA4):c.999C>T (p.Pro333=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 415115	NM_003072.5(SMARCA4):c.1059C>A (p.Thr353=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 238359	NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln)	SMARCA4 (R359Q)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 212232	NM_003072.5(SMARCA4):c.1140C>T (p.His380=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 470230	NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter)	SMARCA4 (R381*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 721334	NM_003072.5(SMARCA4):c.1182G>A (p.Gly394=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 408601	NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val)	SMARCA4 (A429V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 212235	NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 470242	NM_003072.5(SMARCA4):c.1386C>T (p.Ile462=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 238375	NM_003072.5(SMARCA4):c.1419+9C>T	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome +5 more	GBenign/Likely benign
Select item 238379	NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	SMARCA4-related condition +5 more	GBenign/Likely benign
Select item 1675720	NM_003072.5(SMARCA4):c.1593+343G>A	SMARCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 470253	NM_003072.5(SMARCA4):c.1680C>T (p.Tyr560=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GLikely benign
Select item 238382	NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +5 more	GBenign/Likely benign
Select item 1012922	NM_003072.5(SMARCA4):c.1762-2A>G	SMARCA4	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 470259	NM_003072.5(SMARCA4):c.1787C>T (p.Thr596Met)	SMARCA4 (T596M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 212237	NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +5 more	GConflicting classifications of pathogenicity
Select item 470269	NM_003072.5(SMARCA4):c.1908C>T (p.Ala636=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 820353	NM_003072.5(SMARCA4):c.1950A>G (p.Glu650=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 470272	NM_003072.5(SMARCA4):c.1974A>G (p.Glu658=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 212238	NM_003072.5(SMARCA4):c.2001+8T>G	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome +4 more	GBenign/Likely benign
Select item 220892	NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 415157	NM_003072.5(SMARCA4):c.2049C>T (p.Pro683=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 238388	NM_003072.5(SMARCA4):c.2064G>A (p.Lys688=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GBenign/Likely benign
Select item 749513	NM_003072.5(SMARCA4):c.2274+8del	SMARCA4	Deletion (intron variant)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 212240	NM_003072.5(SMARCA4):c.2275-3C>A	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1335324	NM_003072.5(SMARCA4):c.2340G>C (p.Glu780Asp)	SMARCA4 (E780D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 238404	NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +5 more	GBenign/Likely benign
Select item 421389	NM_003072.5(SMARCA4):c.2438C>T (p.Ser813Leu)	SMARCA4 (S813L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1792778	NM_003072.5(SMARCA4):c.2538C>T (p.Pro846=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 415150	NM_003072.5(SMARCA4):c.2574G>A (p.Thr858=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 480631	NM_003072.5(SMARCA4):c.2610C>T (p.Leu870=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GLikely benign
Select item 408714	NM_003072.5(SMARCA4):c.2617-5C>T	SMARCA4	Single nucleotide variant (intron variant)	SMARCA4-related condition +5 more	GLikely benign
Select item 238413	NM_003072.5(SMARCA4):c.2697G>A (p.Thr899=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 212243	NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +5 more	GBenign/Likely benign
Select item 415076	NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1707964	NM_003072.5(SMARCA4):c.3026G>A (p.Arg1009His)	SMARCA4 (R1009H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2649310	NM_003072.5(SMARCA4):c.3034C>T (p.Gln1012Ter)	SMARCA4 (Q1012*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 212248	NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 1335325	NM_003072.5(SMARCA4):c.3140A>T (p.Asn1047Ile)	SMARCA4 (N1047I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 415159	NM_003072.5(SMARCA4):c.3150C>T (p.Tyr1050=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 537912	NM_003072.5(SMARCA4):c.3165C>T (p.Ile1055=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GLikely benign
Select item 2649311	NM_003072.5(SMARCA4):c.3168+33C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 415116	NM_003072.5(SMARCA4):c.3180C>T (p.Ser1060=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 470351	NM_003072.5(SMARCA4):c.3429C>T (p.Asn1143=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 238427	NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +3 more	GBenign/Likely benign
Select item 470353	NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln)	SMARCA4 (E1148Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 449452	NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)	SMARCA4 (R1203H)	Single nucleotide variant (missense variant +1 more)	SMARCA4-related BAFopathy +2 more	GConflicting classifications of pathogenicity
Select item 870816	NM_003072.5(SMARCA4):c.3626G>A (p.Ser1209Asn)	SMARCA4 (S1209N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 238432	NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 1176372	NM_003072.5(SMARCA4):c.3668A>G (p.Asn1223Ser)	SMARCA4 (N1223S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 328034	NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +4 more	GBenign/Likely benign
Select item 238434	NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +5 more	GBenign/Likely benign
Select item 808448	NM_003072.5(SMARCA4):c.3826C>G (p.Pro1276Ala)	SMARCA4 (P1276A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 415104	NM_003072.5(SMARCA4):c.3897C>T (p.Asp1299=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	SMARCA4-related condition +3 more	GLikely benign
Select item 212254	NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	SMARCA4-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1335326	NM_003072.5(SMARCA4):c.3990C>G (p.Asn1330Lys)	SMARCA4 (N1297K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 470376	NM_003072.5(SMARCA4):c.3993C>T (p.Pro1331=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 238453	NM_001387283.1(SMARCA4):c.4187A>G (p.Asp1396Gly)	SMARCA4 (D1396G)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GBenign/Likely benign
Select item 135256	NM_001387283.1(SMARCA4):c.4211T>G (p.Val1404Gly)	SMARCA4 (V1404G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 238456	NM_001387283.1(SMARCA4):c.4217G>A (p.Arg1406His)	SMARCA4 (R1406H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 238460	NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 238462	NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 2498753	NM_003072.5(SMARCA4):c.4259G>A (p.Gly1420Asp)	SMARCA4 (G1387D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 221084	NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 328040	NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
Select item 220888	NM_003072.5(SMARCA4):c.4302C>T (p.Asp1434=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 238471	NM_003072.5(SMARCA4):c.4329C>T (p.Arg1443=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	SMARCA4-related condition +4 more	GBenign/Likely benign
Select item 238472	NM_003072.5(SMARCA4):c.4338G>A (p.Pro1446=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GLikely benign
Select item 238473	NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 238474	NM_003072.5(SMARCA4):c.4404C>T (p.Ala1468=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 238478	NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 415096	NM_003072.5(SMARCA4):c.4605C>T (p.Asn1535=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2649312	NM_003072.5(SMARCA4):c.4647C>T (p.Asp1549=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 415118	NM_003072.5(SMARCA4):c.4677C>T (p.Ser1559=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign

<< First< Prev

Page of 2