"Ambry Genetics"[submitter] AND "TOR1A"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974680	NM_000113.3(TOR1A):c.961del (p.Thr321fs)	TOR1A (T321fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 5180	NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	TOR1A (E303del)	Microsatellite (inframe_deletion)	TOR1A-related condition +6 more	GPathogenic/Likely pathogenic
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 2193600	NM_000113.3(TOR1A):c.716C>T (p.Ala239Val)	TOR1A (A239V)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 1365748	NM_000113.3(TOR1A):c.620+6G>A	TOR1A	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2229384	NM_000113.3(TOR1A):c.383A>G (p.Tyr128Cys)	TOR1A (Y128C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2242340	NM_000113.3(TOR1A):c.304G>A (p.Gly102Arg)	TOR1A (G102R)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5 +1 more	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 2269142	NM_000113.3(TOR1A):c.97G>A (p.Val33Ile)	TOR1A (V33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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