"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130002772" - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365234	NM_000113.3(TOR1A):c.26G>C (p.Gly9Ala)	LOC130002772, TOR1A (G9A)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GBenign/Likely benign
Select item 365235	NM_000113.3(TOR1A):c.-4G>C	TOR1A, LOC130002772	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 365236	NM_000113.3(TOR1A):c.-31C>A	LOC130002772, TOR1A	Single nucleotide variant (5 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365237	NM_000113.3(TOR1A):c.-36C>T	LOC130002772, TOR1A	Single nucleotide variant (5 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365238	NM_000113.2(TOR1A):c.-52T>G	LOC130002772, TOR1A	Single nucleotide variant	Early-onset generalized limb-onset dystonia +1 more	GBenign/Likely benign

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