C0265338[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973330	NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)	ARID1B (E1046* +3 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +1 more	GPathogenic/Likely pathogenic
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 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 328017	NM_003072.5(SMARCA4):c.-32+11C>T	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome	GUncertain significance
Select item 212233	NM_003072.5(SMARCA4):c.120C>T (p.His40=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +5 more	GBenign/Likely benign
Select item 328018	NM_003072.5(SMARCA4):c.147G>A (p.Pro49=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
Select item 328019	NM_003072.5(SMARCA4):c.222+14T>C	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 328020	NM_003072.5(SMARCA4):c.355+9C>T	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +2 more	GBenign/Likely benign
Select item 328021	NM_003072.5(SMARCA4):c.356-14A>G	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +4 more	GBenign
Select item 220638	NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)	SMARCA4 (G148R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GConflicting classifications of pathogenicity
Select item 238476	NM_003072.5(SMARCA4):c.459G>A (p.Pro153=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	Rhabdoid tumor predisposition syndrome 2 +5 more	GBenign
Select item 238508	NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu)	SMARCA4 (P222L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 238519	NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GBenign/Likely benign
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 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)	Rhabdoid tumor predisposition syndrome 2 +5 more	GBenign/Likely benign
Select item 328022	NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu)	SMARCA4 (S323L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GUncertain significance
Select item 212262	NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 408678	NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)	SMARCA4 (S350R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 238358	NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign/Likely 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 238361	NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 328023	NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely 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 328024	NM_003072.5(SMARCA4):c.1119-12C>T	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +3 more	GBenign/Likely benign
Select item 126356	NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +5 more	GBenign
Select item 212236	NM_003072.5(SMARCA4):c.1419+7T>C	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +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)	not provided +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)	Rhabdoid tumor predisposition syndrome 2 +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 238379	NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +5 more	GBenign/Likely benign
Select item 238382	NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 328025	NM_003072.5(SMARCA4):c.1761+6C>T	SMARCA4	Single nucleotide variant (intron variant)	Coffin-Siris syndrome	GUncertain significance
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 328026	NM_003072.5(SMARCA4):c.1944-12C>T	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +4 more	GBenign/Likely benign
Select item 212238	NM_003072.5(SMARCA4):c.2001+8T>G	SMARCA4	Single nucleotide variant (intron variant)	not provided +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)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
Select item 328027	NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +6 more	GBenign/Likely benign
Select item 328028	NM_003072.5(SMARCA4):c.2123+12C>T	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +4 more	GBenign
Select item 328029	NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn)	SMARCA4 (K744N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GUncertain significance
Select item 238397	NM_003072.5(SMARCA4):c.2275-10G>A	SMARCA4	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 220858	NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GBenign
Select item 238404	NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
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 391367	NM_003072.5(SMARCA4):c.2506-14T>C	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +3 more	GBenign/Likely benign
Select item 328030	NM_003072.5(SMARCA4):c.2565C>T (p.Val855=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
Select item 328031	NM_003072.5(SMARCA4):c.2616+14G>T	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 212243	NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 238417	NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 408634	NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +3 more	GBenign/Likely benign
Select item 328032	NM_003072.5(SMARCA4):c.2973+14G>A	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +4 more	GBenign/Likely benign
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)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 238427	NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 328033	NM_003072.5(SMARCA4):c.3547-11T>C	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +4 more	GBenign/Likely benign
Select item 238431	NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign/Likely benign
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)	not provided +5 more	GBenign/Likely benign
Select item 328035	NM_003072.5(SMARCA4):c.3775-12A>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 238441	NM_003072.5(SMARCA4):c.3927C>T (p.His1309=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Coffin-Siris syndrome +4 more	GBenign/Likely benign
Select item 212254	NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 220922	NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
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 328036	NM_003072.5(SMARCA4):c.4110C>T (p.Gly1370=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +3 more	GConflicting classifications of pathogenicity
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 408608	NM_003072.5(SMARCA4):c.4170+5A>G	SMARCA4	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 2 +4 more	GBenign/Likely benign
Select item 238452	NM_003072.5(SMARCA4):c.4171-1858T>A	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 328037	NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His)	SMARCA4 (R1419H)	Single nucleotide variant (missense variant +1 more)	Coffin-Siris syndrome +2 more	GConflicting classifications of pathogenicity
Select item 328038	NM_003072.5(SMARCA4):c.4171-13A>G	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 238460	NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
Select item 328039	NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)	SMARCA4 (R1443Q +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +4 more	GUncertain significance
Select item 221084	NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not specified +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 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 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 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 328041	NM_003072.5(SMARCA4):c.4635+12G>A	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +5 more	GBenign/Likely benign
Select item 238484	NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 328042	NM_003072.5(SMARCA4):c.4768+15G>C	SMARCA4	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 16 +4 more	GBenign/Likely benign
Select item 238497	NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
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
Select item 328043	NM_003072.5(SMARCA4):c.*25C>T	SMARCA4	Single nucleotide variant (3 prime UTR variant +1 more)	Coffin-Siris syndrome	GLikely benign
Select item 892548	NM_003072.5(SMARCA4):c.*34C>G	SMARCA4	Single nucleotide variant (3 prime UTR variant +1 more)	Coffin-Siris syndrome	GLikely benign
Select item 328044	NM_003072.5(SMARCA4):c.*299C>T	SMARCA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328045	NM_003072.5(SMARCA4):c.*327T>C	SMARCA4	Single nucleotide variant (3 prime UTR variant +1 more)	Coffin-Siris syndrome	GBenign
Select item 328046	NM_003072.5(SMARCA4):c.*346G>A	SMARCA4	Single nucleotide variant (3 prime UTR variant +1 more)	Coffin-Siris syndrome	GUncertain significance
Select item 328047	NM_003072.5(SMARCA4):c.*401G>A	SMARCA4	Single nucleotide variant (3 prime UTR variant +1 more)	Coffin-Siris syndrome	GBenign
Select item 328048	NM_001128849.2(SMARCA4):c.*464G>T	SMARCA4	Single nucleotide variant	Coffin-Siris syndrome	GUncertain significance
Select item 340906	NM_003073.5(SMARCB1):c.-149C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome +2 more	GUncertain significance
Select item 340914	NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 340916	NM_003073.5(SMARCB1):c.12_14dup	SMARCB1	Duplication (3 prime UTR variant)	Rhabdoid tumor predisposition syndrome +2 more	GUncertain significance

ClinVar

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Items: 97