ClinVar for Gene (Select 1861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	GTF3C5, HMCN2 +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	AK8, ASB6 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	SH3GLB2, SLC25A25 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3181290	NM_000113.3(TOR1A):c.467G>A (p.Arg156Gln)	TOR1A (R156Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181289	NM_000113.3(TOR1A):c.319G>A (p.Gly107Ser)	TOR1A (G107S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067210	NM_000113.2(TOR1A):c.-53C>T	LOC130002772, TOR1A	Single nucleotide variant	not provided	GLikely benign
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3048781	NM_000113.3(TOR1A):c.894C>T (p.Ser298=)	TOR1A	Single nucleotide variant (synonymous variant)	TOR1A-related disorder	GLikely benign
Select item 3026728	NM_000113.3(TOR1A):c.613T>C (p.Phe205Leu)	TOR1A (F205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020955	NM_000113.3(TOR1A):c.685del (p.Glu229fs)	TOR1A (E229fs)	Deletion (frameshift variant)	Dystonic disorder	GUncertain significance
Select item 2982144	NM_000113.3(TOR1A):c.342C>T (p.Ile114=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2980728	NM_000113.3(TOR1A):c.737A>G (p.Asn246Ser)	TOR1A (N246S)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2966771	NM_000113.3(TOR1A):c.130T>G (p.Cys44Gly)	TOR1A (C44G)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 2911620	NM_000113.3(TOR1A):c.620+20A>G	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2909596	NM_000113.3(TOR1A):c.150C>T (p.Cys50=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2905011	NM_000113.3(TOR1A):c.620+6G>C	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GUncertain significance
Select item 2899368	NM_000113.3(TOR1A):c.687A>G (p.Glu229=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2846201	NM_000113.3(TOR1A):c.351G>A (p.Glu117=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2845707	NM_000113.3(TOR1A):c.787A>C (p.Ile263Leu)	TOR1A (I263L)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2844772	NM_000113.3(TOR1A):c.964G>A (p.Val322Met)	TOR1A (V322M)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2827297	NM_000113.3(TOR1A):c.39G>A (p.Leu13=)	LOC130002772, TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2806068	NM_000113.3(TOR1A):c.268C>G (p.Pro90Ala)	TOR1A (P90A)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2771958	NM_000113.3(TOR1A):c.744G>T (p.Lys248Asn)	TOR1A (K248N)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2764675	NM_000113.3(TOR1A):c.21G>T (p.Val7=)	LOC130002772, TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2752064	NM_000113.3(TOR1A):c.621-18A>G	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2740707	NM_000113.3(TOR1A):c.445-8dup	TOR1A	Duplication (intron variant)	Dystonic disorder	GBenign
Select item 2740512	NM_000113.3(TOR1A):c.728C>T (p.Ser243Leu)	TOR1A (S243L)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 2738407	NM_000113.3(TOR1A):c.171C>T (p.Ser57=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2728893	NM_000113.3(TOR1A):c.620+1G>A	TOR1A	Single nucleotide variant (splice donor variant)	Dystonic disorder	GUncertain significance
Select item 2725206	NM_000113.3(TOR1A):c.729G>A (p.Ser243=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2722310	NM_000113.3(TOR1A):c.306G>C (p.Gly102=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2720931	NM_000113.3(TOR1A):c.858G>A (p.Gln286=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2709224	NM_000113.3(TOR1A):c.873A>T (p.Glu291Asp)	TOR1A (E291D)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2700551	NM_000113.3(TOR1A):c.543T>C (p.Asp181=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2693835	NM_000113.3(TOR1A):c.166C>T (p.Leu56Phe)	TOR1A (L56F)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2659578	NM_000113.3(TOR1A):c.35T>G (p.Leu12Arg)	LOC130002772, TOR1A (L12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659577	NM_000113.3(TOR1A):c.120G>A (p.Pro40=)	TOR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659576	NM_000113.3(TOR1A):c.406T>C (p.Leu136=)	TOR1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659575	NM_000113.3(TOR1A):c.748+234C>T	TOR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659574	NM_000113.3(TOR1A):c.748+267T>A	TOR1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2630971	NM_000113.3(TOR1A):c.999_*12del (p.Ter333TrpextTer?)	TOR1A	Deletion (frameshift variant +1 more)	TOR1A-related disorder	GUncertain significance
Select item 2630777	NM_000113.3(TOR1A):c.748+1G>A	TOR1A	Single nucleotide variant (splice donor variant)	TOR1A-related disorder	GLikely pathogenic
Select item 2580082	NM_000113.3(TOR1A):c.157A>C (p.Lys53Gln)	TOR1A (K53Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577784	NM_000113.3(TOR1A):c.637A>G (p.Arg213Gly)	TOR1A (R213G)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 2547816	NM_000113.3(TOR1A):c.331G>A (p.Val111Ile)	TOR1A (V111I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531788	NM_000113.3(TOR1A):c.470G>A (p.Gly157Asp)	TOR1A (G157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504309	NM_000113.3(TOR1A):c.13_26delinsACGGC (p.Arg5_Gly9delinsThrAla)	LOC130002772, TOR1A	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2490626	NM_000113.3(TOR1A):c.198C>A (p.Asp66Glu)	TOR1A (D66E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445982	NM_000113.3(TOR1A):c.844C>T (p.Arg282Ter)	TOR1A (R282*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 5	GLikely pathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2422366	NC_000009.11:g.(?_132576251)_(132576521_?)dup	TOR1A	Duplication	Dystonic disorder	GUncertain significance
Select item 2293932	NM_000113.3(TOR1A):c.86C>T (p.Ala29Val)	TOR1A (A29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269142	NM_000113.3(TOR1A):c.97G>A (p.Val33Ile)	TOR1A (V33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242340	NM_000113.3(TOR1A):c.304G>A (p.Gly102Arg)	TOR1A (G102R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2229384	NM_000113.3(TOR1A):c.383A>G (p.Tyr128Cys)	TOR1A (Y128C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193600	NM_000113.3(TOR1A):c.716C>T (p.Ala239Val)	TOR1A (A239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2190395	NM_000113.3(TOR1A):c.886A>G (p.Ile296Val)	TOR1A (I296V)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2165440	NM_000113.3(TOR1A):c.474C>T (p.Asn158=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2157604	NM_000113.3(TOR1A):c.124C>A (p.Leu42Ile)	TOR1A (L42I)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2157255	NM_000113.3(TOR1A):c.14G>C (p.Arg5Pro)	LOC130002772, TOR1A (R5P)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2156061	NM_000113.3(TOR1A):c.996T>C (p.Asp332=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GLikely benign
Select item 2151093	NM_000113.3(TOR1A):c.767G>C (p.Ser256Thr)	TOR1A (S256T)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2093298	NM_000113.3(TOR1A):c.674G>A (p.Gly225Glu)	TOR1A (G225E)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2090348	NM_000113.3(TOR1A):c.535C>T (p.Leu179Phe)	TOR1A (L179F)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2079094	NM_000113.3(TOR1A):c.714C>T (p.His238=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2071155	NM_000113.3(TOR1A):c.936_937del (p.Arg312fs)	TOR1A (R312fs)	Microsatellite (frameshift variant)	Dystonic disorder	GUncertain significance
Select item 2057061	NM_000113.3(TOR1A):c.246_247del (p.Phe84fs)	TOR1A (F84fs)	Deletion (frameshift variant)	Dystonic disorder	GUncertain significance
Select item 2053510	NM_000113.3(TOR1A):c.161G>T (p.Arg54Leu)	TOR1A (R54L)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2048115	NM_000113.3(TOR1A):c.444+14T>C	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2043764	NM_000113.3(TOR1A):c.445-12dup	TOR1A	Duplication (intron variant)	Dystonic disorder	GBenign
Select item 2041241	NM_000113.3(TOR1A):c.444+10G>A	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2038810	NM_000113.3(TOR1A):c.748+19C>T	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2032265	NM_000113.3(TOR1A):c.172del (p.Arg58fs)	TOR1A (R58fs)	Deletion (frameshift variant)	Dystonic disorder	GUncertain significance
Select item 2023664	NM_000113.3(TOR1A):c.141C>T (p.Ala47=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2016562	NM_000113.3(TOR1A):c.405A>G (p.Thr135=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1998222	NM_000113.3(TOR1A):c.300G>C (p.Leu100=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1990053	NM_000113.3(TOR1A):c.416C>A (p.Pro139Gln)	TOR1A (P139Q)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1981617	NM_000113.3(TOR1A):c.749-3C>T	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GUncertain significance
Select item 1948239	NM_000113.3(TOR1A):c.836T>C (p.Met279Thr)	TOR1A (M279T)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1910730	NM_000113.3(TOR1A):c.317C>T (p.Thr106Ile)	TOR1A (T106I)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1907467	NM_000113.3(TOR1A):c.445-15C>T	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1879744	NM_000113.3(TOR1A):c.453_458del (p.150QL[1])	TOR1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1808280	GRCh37/hg19 9q34.11(chr9:132449937-132807448)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1720217	NM_000113.3(TOR1A):c.171C>G (p.Ser57Arg)	TOR1A (S57R)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1712767	NM_000113.3(TOR1A):c.304G>C (p.Gly102Arg)	TOR1A (G102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711932	NM_000113.3(TOR1A):c.760C>G (p.His254Asp)	TOR1A (H254D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694449	NM_000113.3(TOR1A):c.927A>C (p.Lys309Asn)	TOR1A (K309N)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5 +1 more	GLikely benign
Select item 1686267	NM_000113.3(TOR1A):c.461G>A (p.Trp154Ter)	TOR1A (W154*)	Single nucleotide variant (nonsense)	Early-onset generalized limb-onset dystonia	GPathogenic
Select item 1686266	NM_000113.3(TOR1A):c.958A>G (p.Lys320Glu)	TOR1A (K320E)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia	GPathogenic
Select item 1683721	NM_000113.3(TOR1A):c.20T>G (p.Val7Gly)	LOC130002772, TOR1A (V7G)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5	GUncertain significance
Select item 1614412	NM_000113.3(TOR1A):c.444+19A>G	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1603924	NM_000113.3(TOR1A):c.993T>C (p.Asp331=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1586456	NM_000113.3(TOR1A):c.339G>A (p.Lys113=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1569246	NM_000113.3(TOR1A):c.749-5C>T	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1556503	NM_000113.3(TOR1A):c.609C>T (p.Phe203=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1475965	NM_000113.3(TOR1A):c.820T>A (p.Tyr274Asn)	TOR1A (Y274N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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