TOR1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 365210	NM_000113.3(TOR1A):c.*1010A>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365211	NM_000113.3(TOR1A):c.*1002C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 914134	NM_000113.3(TOR1A):c.*997G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365212	NM_000113.3(TOR1A):c.*961T>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 914135	NM_000113.3(TOR1A):c.*948C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365213	NM_000113.3(TOR1A):c.*934A>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 914637	NM_000113.3(TOR1A):c.*930T>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365214	NM_000113.3(TOR1A):c.*895ATT[1]	TOR1A	Microsatellite (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 914638	NM_000113.3(TOR1A):c.*879C>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 914639	NM_000113.3(TOR1A):c.*832G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365215	NM_000113.3(TOR1A):c.*831C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365216	NM_000113.3(TOR1A):c.*824del	TOR1A	Deletion (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365217	NM_000113.3(TOR1A):c.*812C>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365218	NM_000113.3(TOR1A):c.*785G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365219	NM_000113.3(TOR1A):c.*623C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365220	NM_000113.3(TOR1A):c.*454T>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365221	NM_000113.3(TOR1A):c.*423del	TOR1A	Deletion (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365223	NM_000113.3(TOR1A):c.*416T>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia +1 more	GBenign
Select item 365222	NM_000113.3(TOR1A):c.415_416insG	TOR1A	Insertion (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365225	NM_000113.3(TOR1A):c.*414G>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365224	NM_000113.3(TOR1A):c.*414del	TOR1A	Deletion (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365226	NM_000113.3(TOR1A):c.*345C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365227	NM_000113.3(TOR1A):c.*216C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365228	NM_000113.3(TOR1A):c.*214C>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia +1 more	GBenign
Select item 912676	NM_000113.3(TOR1A):c.*201G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 912677	NM_000113.3(TOR1A):c.*193G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia +1 more	GBenign/Likely benign
Select item 365229	NM_000113.3(TOR1A):c.*191G>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Dystonic disorder +2 more	GBenign
Select item 913780	NM_000113.3(TOR1A):c.*165G>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365230	NM_000113.3(TOR1A):c.*165G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365231	NM_000113.3(TOR1A):c.*149G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365232	NM_000113.3(TOR1A):c.*112G>C	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 913781	NM_000113.3(TOR1A):c.*108G>C	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 2630971	NM_000113.3(TOR1A):c.999_*12del (p.Ter333TrpextTer?)	TOR1A	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 2156061	NM_000113.3(TOR1A):c.996T>C (p.Asp332=)	TOR1A	Single nucleotide variant (synonymous 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 1016788	NM_000113.3(TOR1A):c.991G>A (p.Asp331Asn)	TOR1A (D331N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 287240	NM_000113.3(TOR1A):c.990C>T (p.Tyr330=)	TOR1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5181	NM_000113.3(TOR1A):c.966_983del (p.Phe323_Tyr328del)	TOR1A	Deletion (inframe_deletion)	Dystonia, early-onset atypical, with myoclonic features	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 913782	NM_000113.3(TOR1A):c.962C>T (p.Thr321Met)	TOR1A (T321M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 974680	NM_000113.3(TOR1A):c.961del (p.Thr321fs)	TOR1A (T321fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
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 974679	NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)	TOR1A (G318S)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5	GPathogenic
Select item 929450	NM_000113.3(TOR1A):c.949A>T (p.Lys317Ter)	TOR1A (K317*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 576253	NM_000113.3(TOR1A):c.949A>G (p.Lys317Glu)	TOR1A (K317E)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2071155	NM_000113.3(TOR1A):c.936_937del (p.Arg312fs)	TOR1A (R312fs)	Microsatellite (frameshift variant)	Dystonic disorder	GUncertain significance
Select item 21053	NM_000113.3(TOR1A):c.934_937del (p.Arg312fs)	TOR1A (R312fs)	Microsatellite (frameshift variant)	Early-onset generalized limb-onset dystonia	Gnot provided
Select item 933433	NM_000113.3(TOR1A):c.935G>A (p.Arg312Lys)	TOR1A (R312K)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1142248	NM_000113.3(TOR1A):c.930G>A (p.Glu310=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1694449	NM_000113.3(TOR1A):c.927A>C (p.Lys309Asn)	TOR1A (K309N)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia +1 more	GLikely benign
Select item 841353	NM_000113.3(TOR1A):c.916T>G (p.Phe306Val)	TOR1A (F306V)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 5180	NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	TOR1A (E303del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
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 2190395	NM_000113.3(TOR1A):c.886A>G (p.Ile296Val)	TOR1A (I296V)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1325218	NM_000113.3(TOR1A):c.880G>T (p.Glu294Ter)	TOR1A (E294*)	Single nucleotide variant (nonsense)	Dystonic disorder	GUncertain significance
Select item 255139	NM_000113.3(TOR1A):c.875T>C (p.Ile292Thr)	TOR1A (I292T)	Single nucleotide variant (missense variant)	not specified +1 more	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 653047	NM_000113.3(TOR1A):c.866G>A (p.Gly289Asp)	TOR1A (G289D)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1174658	NM_000113.3(TOR1A):c.863G>T (p.Arg288Leu)	TOR1A (R288L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 162491	NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)	TOR1A (R288Q)	Single nucleotide variant (missense variant)	TOR1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 559927	NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	TOR1A (R288*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 872097	NM_000113.3(TOR1A):c.860C>A (p.Ser287Tyr)	TOR1A (S287Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720931	NM_000113.3(TOR1A):c.858G>A (p.Gln286=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 503652	NM_000113.3(TOR1A):c.856C>T (p.Gln286Ter)	TOR1A (Q286*)	Single nucleotide variant (nonsense)	not provided	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 1948239	NM_000113.3(TOR1A):c.836T>C (p.Met279Thr)	TOR1A (M279T)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 695773	NM_000113.3(TOR1A):c.823A>G (p.Lys275Glu)	TOR1A (K275E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1475965	NM_000113.3(TOR1A):c.820T>A (p.Tyr274Asn)	TOR1A (Y274N)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 695357	NM_000113.3(TOR1A):c.819A>G (p.Glu273=)	TOR1A	Single nucleotide variant (synonymous variant)	Dystonic disorder	GBenign
Select item 255138	NM_000113.3(TOR1A):c.813C>G (p.Pro271=)	TOR1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3341042	NM_000113.3(TOR1A):c.806T>C (p.Phe269Ser)	TOR1A (F269S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1395430	NM_000113.3(TOR1A):c.778C>T (p.Arg260Trp)	TOR1A (R260W)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 852503	NM_000113.3(TOR1A):c.769T>G (p.Leu257Val)	TOR1A (L257V)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
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 1711932	NM_000113.3(TOR1A):c.760C>G (p.His254Asp)	TOR1A (H254D)	Single nucleotide variant (missense variant)	not provided	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 1569246	NM_000113.3(TOR1A):c.749-5C>T	TOR1A	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 255137	NM_000113.3(TOR1A):c.749-11C>A	TOR1A	Single nucleotide variant (intron variant)	Early-onset generalized limb-onset dystonia +3 more	GBenign
Select item 1189402	NM_000113.3(TOR1A):c.749-157del	TOR1A	Deletion (intron variant)	not provided	GLikely benign
Select item 1223978	NM_000113.3(TOR1A):c.749-164G>T	TOR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295934	NM_000113.3(TOR1A):c.749-179dup	TOR1A	Duplication (intron variant)	not provided	GBenign

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