"Clinical Genetics, Academic Medical Center"[submitter] AND "TDP1"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 314824	NM_018319.4(TDP1):c.291A>G (p.Gln97=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 314825	NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)	LOC126862019, TDP1 (P101L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 314826	NM_018319.4(TDP1):c.400G>A (p.Ala134Thr)	LOC126862019, TDP1 (A134T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +2 more	GBenign
Select item 314831	NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)	TDP1 (R304Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GBenign/Likely benign
Select item 314832	NM_018319.4(TDP1):c.1077A>G (p.Pro359=)	TDP1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +2 more	GBenign
Select item 314833	NM_018319.4(TDP1):c.1098A>G (p.Gln366=)	TDP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1284728	NM_018319.4(TDP1):c.1317+20G>A	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 314839	NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala)	TDP1 (T569A)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GBenign/Likely benign