"Invitae"[submitter] AND "SMARCB1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 677083	NM_003073.4(SMARCB1):c.-228G>T	SMARCB1	Single nucleotide variant	not provided	GBenign
Select item 239480	NM_003073.4(SMARCB1):c.-207-?_*338dup1703	DERL3, SMARCB1	Duplication	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 664456	NC_000022.11:g.(?_23787160)_(23787272_?)del	SMARCB1	Deletion	not provided	GPathogenic
Select item 664446	NC_000022.11:g.(?_23787160)_(23834190_?)del	SMARCB1	Deletion	not provided	GPathogenic
Select item 583515	NC_000022.10:g.(?_24129347)_(24176377_?)dup	SMARCB1	Duplication	not provided	GUncertain significance
Select item 464313	NC_000022.11:g.(?_23787164)_(23834186_?)del	SMARCB1	Deletion	Rhabdoid tumor predisposition syndrome 1	GPathogenic
Select item 2798151	NM_003073.5(SMARCB1):c.-1_2del (p.Met4del)	SMARCB1 (M4del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2712544	NM_003073.5(SMARCB1):c.1A>C (p.Met1Leu)	SMARCB1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 532969	NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del)	SMARCB1 (M4del)	Microsatellite (inframe_deletion +1 more)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 135257	NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)	SMARCB1 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1507035	NM_003073.5(SMARCB1):c.4A>G (p.Met2Val)	SMARCB1 (M2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720691	NM_003073.5(SMARCB1):c.5T>G (p.Met2Arg)	SMARCB1 (M2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728217	NM_003073.5(SMARCB1):c.6G>A (p.Met2Ile)	SMARCB1 (M2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736303	NM_003073.5(SMARCB1):c.8T>A (p.Met3Lys)	SMARCB1 (M3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117361	NM_003073.5(SMARCB1):c.9_10delinsTT (p.Met3_Met4delinsIleLeu)	SMARCB1	Indel (missense variant)	not provided	GUncertain significance
Select item 2113167	NM_003073.5(SMARCB1):c.10A>T (p.Met4Leu)	SMARCB1 (M4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045351	NM_003073.5(SMARCB1):c.11T>C (p.Met4Thr)	SMARCB1 (M4T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2829104	NM_003073.5(SMARCB1):c.13G>T (p.Ala5Ser)	SMARCB1 (A5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 577312	NM_003073.5(SMARCB1):c.14C>T (p.Ala5Val)	SMARCB1 (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545418	NM_003073.5(SMARCB1):c.15G>T (p.Ala5=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1605408	NM_003073.5(SMARCB1):c.18G>T (p.Leu6=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1037645	NM_003073.5(SMARCB1):c.20G>A (p.Ser7Asn)	SMARCB1 (S7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 820884	NM_003073.5(SMARCB1):c.21C>T (p.Ser7=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1379500	NM_003073.5(SMARCB1):c.22A>G (p.Lys8Glu)	SMARCB1 (K8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550250	NM_003073.5(SMARCB1):c.24G>A (p.Lys8=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662698	NM_003073.5(SMARCB1):c.27C>G (p.Thr9=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 532987	NM_003073.5(SMARCB1):c.27C>T (p.Thr9=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 822894	NM_003073.5(SMARCB1):c.30C>T (p.Phe10=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 8026	NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)	SMARCB1 (Q12*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1733063	NM_003073.5(SMARCB1):c.35A>G (p.Gln12Arg)	SMARCB1 (Q12R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1107183	NM_003073.5(SMARCB1):c.39G>A (p.Lys13=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1738639	NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)	SMARCB1 (P14H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2005047	NM_003073.5(SMARCB1):c.42C>G (p.Pro14=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 464326	NM_003073.5(SMARCB1):c.42C>T (p.Pro14=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2882485	NM_003073.5(SMARCB1):c.43G>A (p.Val15Met)	SMARCB1 (V15M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861317	NM_003073.5(SMARCB1):c.44T>C (p.Val15Ala)	SMARCB1 (V15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1138840	NM_003073.5(SMARCB1):c.45G>A (p.Val15=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564388	NM_003073.5(SMARCB1):c.48G>A (p.Lys16=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511951	NM_003073.5(SMARCB1):c.54G>C (p.Gln18His)	SMARCB1 (Q18H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797925	NM_003073.5(SMARCB1):c.55C>T (p.Leu19=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391465	NM_003073.5(SMARCB1):c.57_74del (p.Glu20_Phe25del)	SMARCB1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1486330	NM_003073.5(SMARCB1):c.59A>C (p.Glu20Ala)	SMARCB1 (E20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146449	NM_003073.5(SMARCB1):c.60G>A (p.Glu20=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 826242	NM_003073.5(SMARCB1):c.61G>A (p.Asp21Asn)	SMARCB1 (D21N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1218089	NM_003073.5(SMARCB1):c.62A>G (p.Asp21Gly)	SMARCB1 (D21G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146450	NM_003073.5(SMARCB1):c.63C>T (p.Asp21=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 646013	NM_003073.5(SMARCB1):c.64G>A (p.Asp22Asn)	SMARCB1 (D22N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 840331	NM_003073.5(SMARCB1):c.67G>A (p.Gly23Ser)	SMARCB1 (G23S)	Single nucleotide variant (missense variant)	SMARCB1-related condition +2 more	GUncertain significance
Select item 826695	NM_003073.5(SMARCB1):c.68G>A (p.Gly23Asp)	SMARCB1 (G23D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 464335	NM_003073.5(SMARCB1):c.69C>G (p.Gly23=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 826836	NM_003073.5(SMARCB1):c.70G>A (p.Glu24Lys)	SMARCB1 (E24K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1059096	NM_003073.5(SMARCB1):c.71A>C (p.Glu24Ala)	SMARCB1 (E24A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1758199	NM_003073.5(SMARCB1):c.72G>A (p.Glu24=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1514377	NM_003073.5(SMARCB1):c.74T>C (p.Phe25Ser)	SMARCB1 (F25S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2026503	NM_003073.5(SMARCB1):c.75C>T (p.Phe25=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 532982	NM_003073.5(SMARCB1):c.78C>T (p.Tyr26=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 941247	NM_003073.5(SMARCB1):c.79A>G (p.Met27Val)	SMARCB1 (M27V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 464339	NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu)	SMARCB1 (M27L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 15 +2 more	GUncertain significance
Select item 838596	NM_003073.5(SMARCB1):c.80T>G (p.Met27Arg)	SMARCB1 (M27R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2630806	NM_003073.5(SMARCB1):c.82A>G (p.Ile28Val)	SMARCB1 (I28V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1061593	NM_003073.5(SMARCB1):c.83_84delinsAA (p.Ile28Lys)	SMARCB1 (I28K)	Indel (missense variant)	not provided	GUncertain significance
Select item 1507853	NM_003073.5(SMARCB1):c.85G>A (p.Gly29Ser)	SMARCB1 (G29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 948259	NM_003073.5(SMARCB1):c.85G>C (p.Gly29Arg)	SMARCB1 (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 822745	NM_003073.5(SMARCB1):c.87C>T (p.Gly29=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 532978	NM_003073.5(SMARCB1):c.90C>T (p.Ser30=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 464340	NM_003073.5(SMARCB1):c.90C>G (p.Ser30=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1430166	NM_003073.5(SMARCB1):c.91G>T (p.Glu31Ter)	SMARCB1 (E31*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1074512	NM_003073.5(SMARCB1):c.92_93del (p.Glu31fs)	SMARCB1 (E31fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2764125	NM_003073.5(SMARCB1):c.92A>G (p.Glu31Gly)	SMARCB1 (E31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8031	NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)	SMARCB1 (E31V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2820911	NM_003073.5(SMARCB1):c.93G>A (p.Glu31=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2756048	NM_003073.5(SMARCB1):c.93+1G>A	SMARCB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1766506	NM_003073.5(SMARCB1):c.93+4G>A	SMARCB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2920528	NM_003073.5(SMARCB1):c.93+5C>A	SMARCB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2914795	NM_003073.5(SMARCB1):c.93+7del	SMARCB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1391284	NM_003073.5(SMARCB1):c.93+6C>T	SMARCB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 416322	NM_003073.5(SMARCB1):c.93+7C>T	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859990	NM_003073.5(SMARCB1):c.93+8_93+25del	SMARCB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1545338	NM_003073.5(SMARCB1):c.93+8G>A	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1140309	NM_003073.5(SMARCB1):c.93+9G>C	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641581	NM_003073.5(SMARCB1):c.93+10G>A	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789955	NM_003073.5(SMARCB1):c.93+11G>A	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2191430	NM_003073.5(SMARCB1):c.93+12C>T	SMARCB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1572608	NM_003073.5(SMARCB1):c.93+12C>G	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656474	NM_003073.5(SMARCB1):c.93+14C>T	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145464	NM_003073.5(SMARCB1):c.93+15G>A	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593077	NM_003073.5(SMARCB1):c.93+16T>G	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611281	NM_003073.5(SMARCB1):c.93+20C>T	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725642	NM_003073.5(SMARCB1):c.94-20C>G	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566842	NM_003073.5(SMARCB1):c.94-20C>T	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833378	NM_003073.5(SMARCB1):c.94-16C>G	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652213	NM_003073.5(SMARCB1):c.94-15T>G	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2146452	NM_003073.5(SMARCB1):c.94-14T>C	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124261	NM_003073.5(SMARCB1):c.94-14T>G	SMARCB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2085878	NM_003073.5(SMARCB1):c.94-13G>A	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2162395	NM_003073.5(SMARCB1):c.94-12C>T	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 584331	NC_000022.10:g.(?_24133933)_(24176377_?)dup	SMARCB1	Duplication	not provided	GUncertain significance
Select item 1104921	NM_003073.5(SMARCB1):c.94-8A>G	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 464315	NC_000022.10:g.(?_24133937)_(24176373_?)dup	SMARCB1	Duplication	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 2102760	NM_003073.5(SMARCB1):c.94-4A>T	SMARCB1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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