"GeneDx"[submitter] AND "TOR1A"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
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 365229	NM_000113.3(TOR1A):c.*191G>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Dystonic disorder +2 more	GBenign
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 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 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 5180	NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	TOR1A (E303del)	Microsatellite (inframe_deletion)	Early-onset generalized limb-onset dystonia +5 more	GConflicting classifications of pathogenicity
Select item 162491	NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)	TOR1A (R288Q)	Single nucleotide variant (missense variant)	Dystonic 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)	Arthrogryposis multiplex congenita 5 +2 more	GPathogenic/Likely pathogenic
Select item 503652	NM_000113.3(TOR1A):c.856C>T (p.Gln286Ter)	TOR1A (Q286*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3371980	NM_000113.3(TOR1A):c.824A>G (p.Lys275Arg)	TOR1A (K275R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695773	NM_000113.3(TOR1A):c.823A>G (p.Lys275Glu)	TOR1A (K275E)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia +3 more	GConflicting classifications of pathogenicity
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 1711932	NM_000113.3(TOR1A):c.760C>G (p.His254Asp)	TOR1A (H254D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 1295836	NM_000113.3(TOR1A):c.748+113C>G	TOR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212505	NM_000113.3(TOR1A):c.719T>C (p.Leu240Ser)	TOR1A (L240S)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5 +2 more	GUncertain significance
Select item 5182	NM_000113.3(TOR1A):c.646G>C (p.Asp216His)	TOR1A (D216H)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia +4 more	GBenign
Select item 2577784	NM_000113.3(TOR1A):c.637A>G (p.Arg213Gly)	TOR1A (R213G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306824	NM_000113.3(TOR1A):c.629G>A (p.Gly210Glu)	TOR1A (G210E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18438	NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)	TOR1A (F205I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 695881	NM_000113.3(TOR1A):c.561C>T (p.Leu187=)	TOR1A	Single nucleotide variant (synonymous variant)	Early-onset generalized limb-onset dystonia +2 more	GBenign/Likely benign
Select item 2090348	NM_000113.3(TOR1A):c.535C>T (p.Leu179Phe)	TOR1A (L179F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3377891	NM_000113.3(TOR1A):c.502A>G (p.Ile168Val)	TOR1A (I168V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308622	NM_000113.3(TOR1A):c.466C>T (p.Arg156Ter)	TOR1A (R156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 255135	NM_000113.3(TOR1A):c.445-22G>A	TOR1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 268213	NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)	TOR1A (E121K)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
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 255134	NM_000113.3(TOR1A):c.246C>T (p.Ala82=)	TOR1A	Single nucleotide variant (synonymous variant)	Early-onset generalized limb-onset dystonia +3 more	GBenign
Select item 3340927	NM_000113.3(TOR1A):c.191A>G (p.Asp64Gly)	TOR1A (D64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215543	NM_000113.3(TOR1A):c.179-164C>T	TOR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295932	NM_000113.3(TOR1A):c.179-231T>A	TOR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234191	NM_000113.3(TOR1A):c.178+269A>G	TOR1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252943	NM_000113.3(TOR1A):c.178+192CTGGGG[2]	TOR1A	Microsatellite (intron variant)	not provided	GBenign
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 1309266	NM_000113.3(TOR1A):c.122G>A (p.Arg41His)	TOR1A (R41H)	Single nucleotide variant (missense variant)	not provided	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 365238	NM_000113.2(TOR1A):c.-52T>G	TOR1A, LOC130002772	Single nucleotide variant	Early-onset generalized limb-onset dystonia +1 more	GBenign/Likely benign
Select item 1295835	NC_000009.12:g.129824189C>T	LOC130002772, TOR1A	Single nucleotide variant	not specified +1 more	GBenign
Select item 1265730	NC_000009.12:g.129824273T>A	LOC130002772, TOR1A	Single nucleotide variant	not provided	GBenign
Select item 1247077	NC_000009.12:g.129824309G>T	LOC130002772, TOR1A	Single nucleotide variant	not provided	GBenign
Select item 1274978	NC_000009.12:g.129824459G>A	TOR1A	Single nucleotide variant	not provided	GBenign
Select item 1249365	NC_000009.12:g.129824478G>A	TOR1A	Single nucleotide variant	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 49