C2750074[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 212239	NM_003072.5(SMARCA4):c.223-5C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 415064	NM_003072.5(SMARCA4):c.223-4G>A	SMARCA4	Single nucleotide variant (intron variant)	SMARCA4-related disorder +5 more	GBenign/Likely benign
Select item 480560	NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)	SMARCA4 (G102V)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GUncertain significance
Select item 415069	NM_003072.5(SMARCA4):c.441C>T (p.Ser147=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +4 more	GBenign/Likely benign
Select item 135251	NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser)	SMARCA4 (P197S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 212260	NM_003072.5(SMARCA4):c.708T>C (p.Pro236=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 238517	NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])	SMARCA4	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 238519	NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	SMARCA4-related disorder +6 more	GBenign/Likely benign
Select item 212261	NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)	SMARCA4 (G264A)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 480554	NM_003072.5(SMARCA4):c.888G>A (p.Thr296=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +2 more	GLikely benign
Select item 126366	NM_003072.5(SMARCA4):c.915G>A (p.Pro305=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign
Select item 126367	NM_003072.5(SMARCA4):c.930C>A (p.Arg310=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 220832	NM_003072.5(SMARCA4):c.960C>T (p.Pro320=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 470471	NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr)	SMARCA4 (A321T)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 212262	NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +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)	SMARCA4-related disorder +4 more	GLikely benign
Select item 126355	NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)	SMARCA4 (Y372H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 415129	NM_003072.5(SMARCA4):c.1118+7del	SMARCA4	Deletion (intron variant)	SMARCA4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 238364	NM_003072.5(SMARCA4):c.1119-6T>C	SMARCA4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 212234	NM_003072.5(SMARCA4):c.1236C>T (p.Phe412=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign/Likely benign
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 126356	NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 221154	NM_003072.5(SMARCA4):c.1419+4C>T	SMARCA4	Single nucleotide variant (intron variant)	SMARCA4-related disorder +3 more	GBenign/Likely benign
Select item 212236	NM_003072.5(SMARCA4):c.1419+7T>C	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome +4 more	GBenign/Likely benign
Select item 126357	NM_003072.5(SMARCA4):c.1419+8C>T	SMARCA4	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely 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 126358	NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +5 more	GBenign
Select item 126359	NM_003072.5(SMARCA4):c.1524T>C (p.His508=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign
Select item 436810	NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg)	SMARCA4 (K583R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 212237	NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 212240	NM_003072.5(SMARCA4):c.2275-3C>A	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +5 more	GConflicting classifications of pathogenicity
Select item 238404	NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 415045	NM_003072.5(SMARCA4):c.2418C>T (p.Phe806=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 212241	NM_003072.5(SMARCA4):c.2438+10C>T	SMARCA4	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 212242	NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 238414	NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	SMARCA4-related disorder +4 more	GBenign/Likely benign
Select item 212243	NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
Select item 436811	NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg)	SMARCA4 (P946R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 436806	NM_003072.5(SMARCA4):c.2859+8T>G	SMARCA4	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 212245	NM_003072.5(SMARCA4):c.2922del (p.Phe975fs)	SMARCA4 (F975fs)	Deletion (frameshift variant +1 more)	Rhabdoid tumor predisposition syndrome 2	GPathogenic
Select item 212246	NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)	SMARCA4 (R979Q)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 212247	NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 436809	NM_003072.5(SMARCA4):c.3021C>T (p.Leu1007=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 212248	NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 238422	NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +5 more	GBenign/Likely benign
Select item 470351	NM_003072.5(SMARCA4):c.3429C>T (p.Asn1143=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	SMARCA4-related disorder +4 more	GLikely benign
Select item 212249	NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs)	SMARCA4 (L1161fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 436807	NM_003072.5(SMARCA4):c.3546+9G>A	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 212250	NM_003072.5(SMARCA4):c.3732C>T (p.Arg1244=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 238434	NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 212253	NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)	SMARCA4 (P1277L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 238439	NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 212254	NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +6 more	GConflicting classifications of pathogenicity
Select item 126362	NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=)	SMARCA4	Single nucleotide variant (non-coding transcript variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign
Select item 212255	NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 212256	NM_001387283.1(SMARCA4):c.4174A>G (p.Ile1392Val)	SMARCA4 (I1392V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 470399	NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn)	SMARCA4 (D1467N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 470403	NM_003072.5(SMARCA4):c.4491C>T (p.Tyr1497=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GLikely benign
Select item 126363	NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +5 more	GBenign/Likely benign
Select item 126364	NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign
Select item 436808	NM_003072.5(SMARCA4):c.4593C>T (p.Leu1531=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 470417	NM_003072.5(SMARCA4):c.4620C>T (p.Asn1540=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 212258	NM_003072.5(SMARCA4):c.4667del (p.Val1556fs)	SMARCA4 (V1523fs +5 more)	Deletion (frameshift variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +1 more	GPathogenic
Select item 212259	NM_003072.5(SMARCA4):c.4768+10G>A	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 238493	NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)	SMARCA4 (G1644S +5 more)	Single nucleotide variant (missense variant +1 more)	SMARCA4-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 126365	NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign

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Items: 69