ClinVar for MedGen (Select 322892) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240535	NM_003073.5(SMARCB1):c.1102C>T (p.Gln368Ter)	SMARCB1 (Q359* +3 more)	Single nucleotide variant (nonsense)	Rhabdoid tumor predisposition syndrome 1	GLikely pathogenic
Select item 3240534	NM_003073.5(SMARCB1):c.93+374A>G	SMARCB1	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 3240533	NM_003073.5(SMARCB1):c.26C>G (p.Thr9Ser)	SMARCB1 (T9S)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 3240532	NM_003073.5(SMARCB1):c.632A>G (p.Lys211Arg)	SMARCB1 (K202R +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 2679021	NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr)	SMARCB1 (H168Y +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 2679020	NM_003073.5(SMARCB1):c.232+59A>G	SMARCB1	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 2679019	NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly)	SMARCB1 (A231G +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 2116736	NM_003073.5(SMARCB1):c.700G>T (p.Val234Leu)	SMARCB1 (V225L +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 1803243	NM_003073.5(SMARCB1):c.575_584dup (p.Asp196fs)	SMARCB1 (D187fs +3 more)	Duplication (frameshift variant)	Rhabdoid tumor predisposition syndrome 1	GPathogenic
Select item 1692746	NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys)	SMARCB1 (R252C +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GUncertain significance
Select item 1327094	NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg)	SMARCB1 (T205R +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GUncertain significance
Select item 1063816	NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val)	SMARCB1 (A337V +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 1032872	NM_003073.5(SMARCB1):c.1062_1063del (p.Glu354fs)	SMARCB1 (E354fs +3 more)	Microsatellite (frameshift variant)	Rhabdoid tumor predisposition syndrome 1	GPathogenic
Select item 995897	NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)	SMARCB1 (R149* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 951906	NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln)	SMARCB1 (R334Q +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GUncertain significance
Select item 941247	NM_003073.5(SMARCB1):c.79A>G (p.Met27Val)	SMARCB1 (M27V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 937664	NM_003073.5(SMARCB1):c.500+6G>C	SMARCB1 (G160A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 903097	NM_003073.5(SMARCB1):c.*100C>G	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 903096	NM_003073.5(SMARCB1):c.*33T>G	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Schwannomatosis 1 +1 more	GBenign
Select item 903044	NM_003073.5(SMARCB1):c.-31C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 903043	NM_003073.5(SMARCB1):c.-83C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 902212	NM_003073.5(SMARCB1):c.1118+8T>C	SMARCB1	Single nucleotide variant (intron variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 900606	NM_003073.5(SMARCB1):c.*307A>G	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 900547	NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900500	NM_003073.5(SMARCB1):c.-184G>A	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GBenign/Likely benign
Select item 899472	NM_003073.5(SMARCB1):c.*197A>C	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 899471	NM_003073.5(SMARCB1):c.*159C>G	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 827354	NM_003073.5(SMARCB1):c.795+5G>A	SMARCB1	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GUncertain significance
Select item 826292	NM_003073.5(SMARCB1):c.628+4C>T	SMARCB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 695025	NM_003073.5(SMARCB1):c.812del (p.Gly271fs)	SMARCB1 (G271fs +3 more)	Deletion (frameshift variant)	Rhabdoid tumor predisposition syndrome 1	GPathogenic
Select item 651993	NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met)	SMARCB1 (T399M +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 650818	NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala)	SMARCB1 (V101A +1 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GUncertain significance
Select item 581167	NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr)	SMARCB1 (D225Y +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 532988	NC_000022.11:g.(?_23833566)_(23834186_?)del	SMARCB1	Deletion	Rhabdoid tumor predisposition syndrome 1	GLikely pathogenic
Select item 532975	NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)	SMARCB1	Single nucleotide variant (synonymous variant)	Rhabdoid tumor predisposition syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 532973	NM_003073.5(SMARCB1):c.169G>A (p.Val57Met)	SMARCB1 (V57M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 532969	NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del)	SMARCB1 (M4del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 486504	NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys)	SMARCB1 (Q323K +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 +3 more	GUncertain significance
Select item 464338	NM_003073.5(SMARCB1):c.795+9C>T	SMARCB1	Single nucleotide variant (intron variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GLikely benign
Select item 464337	NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met)	SMARCB1 (T250M +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 464334	NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met)	SMARCB1 (T232M +3 more)	Single nucleotide variant (missense variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 464324	NM_003073.5(SMARCB1):c.232+5G>A	SMARCB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 464323	NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter)	SMARCB1 (K62*)	Single nucleotide variant (nonsense)	Rhabdoid tumor predisposition syndrome 1	GPathogenic
Select item 464318	NC_000022.10:g.(?_24143125)_(24176373_?)dup	SMARCB1	Duplication	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 464316	NC_000022.11:g.(?_23793553)_(23793694_?)del	SMARCB1	Deletion	not provided	GPathogenic
Select item 464315	NC_000022.10:g.(?_24133937)_(24176373_?)dup	SMARCB1	Duplication	Rhabdoid tumor predisposition syndrome 1	GUncertain significance
Select item 464313	NC_000022.11:g.(?_23787164)_(23834186_?)del	SMARCB1	Deletion	Rhabdoid tumor predisposition syndrome 1	GPathogenic
Select item 463433	NM_003079.5(SMARCE1):c.762G>A (p.Glu254=)	SMARCE1	Single nucleotide variant (synonymous variant)	Rhabdoid tumor predisposition syndrome 1 +2 more	GLikely benign
Select item 463415	NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=)	SMARCE1	Single nucleotide variant (synonymous variant)	Rhabdoid tumor predisposition syndrome 1 +3 more	GLikely benign
Select item 416325	NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 416321	NM_003073.5(SMARCB1):c.696G>A (p.Thr232=)	SMARCB1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 414255	NM_003079.5(SMARCE1):c.525T>C (p.Pro175=)	SMARCE1	Single nucleotide variant (synonymous variant)	Familial meningioma +2 more	GLikely benign
Select item 388704	NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=)	SMARCB1	Single nucleotide variant (synonymous variant)	Rhabdoid tumor predisposition syndrome 1 +4 more	GBenign/Likely benign
Select item 340922	NM_003073.5(SMARCB1):c.*293C>T	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GBenign
Select item 340921	NM_003073.5(SMARCB1):c.*279G>A	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 340920	NM_003073.5(SMARCB1):c.*113C>T	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 340918	NM_003073.5(SMARCB1):c.*17C>T	SMARCB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 340917	NM_003073.5(SMARCB1):c.*15C>A	SMARCB1	Single nucleotide variant (3 prime UTR variant)	Schwannomatosis 1 +1 more	GLikely benign
Select item 340915	NM_003073.5(SMARCB1):c.987-4G>C	SMARCB1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340913	NM_003073.5(SMARCB1):c.628+13C>T	SMARCB1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 340912	NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)	SMARCB1 (A203T +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 340911	NM_003073.5(SMARCB1):c.-17C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Schwannomatosis 1 +1 more	GBenign
Select item 340910	NM_003073.5(SMARCB1):c.-107A>G	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 340909	NM_003073.5(SMARCB1):c.-115C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 340908	NM_003073.5(SMARCB1):c.-117C>T	SMARCB1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 340907	NM_003073.5(SMARCB1):c.-148T>C	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Schwannomatosis 1 +1 more	GUncertain significance
Select item 340905	NM_003073.5(SMARCB1):c.-157G>A	SMARCB1	Single nucleotide variant (5 prime UTR variant)	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 281915	NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=)	SMARCB1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 239489	NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)	SMARCE1 (E411*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 239486	NM_003073.4(SMARCB1):c.987-?_*338dup510	DERL3, SMARCB1	Duplication	Rhabdoid tumor predisposition syndrome 1 +1 more	GUncertain significance
Select item 239484	NM_003073.5(SMARCB1):c.438A>G (p.Pro146=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 239483	NM_003073.5(SMARCB1):c.362+7C>T	SMARCB1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 239480	NM_003073.4(SMARCB1):c.-207-?_*338dup1703	DERL3, SMARCB1	Duplication	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)	not provided +3 more	GBenign/Likely benign
Select item 126368	NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)	SMARCB1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 30201	NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)	SMARCB1 (K364del +3 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 8030	NM_003073.5(SMARCB1):c.629-361_795+2103dup	SMARCB1	Duplication (splice acceptor variant +1 more)	Schwannomatosis 1 +1 more	GPathogenic
Select item 8025	NM_003073.5(SMARCB1):c.986+1G>A	SMARCB1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 8024	NM_003073.5(SMARCB1):c.591del (p.Gln198fs)	SMARCB1 (Q198fs +3 more)	Deletion (frameshift variant)	Rhabdoid tumor predisposition syndrome 1	GPathogenic

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Items: 80