"Athena Diagnostics"[submitter] AND "LOC126862019"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586807	NM_018319.4(TDP1):c.2T>G (p.Met1Arg)	LOC126862019, TDP1 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 314822	NM_018319.4(TDP1):c.15C>T (p.Gly5=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GUncertain significance
Select item 314823	NM_018319.4(TDP1):c.19T>C (p.Tyr7His)	LOC126862019, TDP1 (Y7H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +2 more	GUncertain significance
Select item 586808	NM_018319.4(TDP1):c.34A>T (p.Ile12Leu)	LOC126862019, TDP1 (I12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805647	NM_018319.4(TDP1):c.135G>A (p.Arg45=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805648	NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys)	LOC126862019, TDP1 (Y46C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 586804	NM_018319.4(TDP1):c.148G>A (p.Glu50Lys)	LOC126862019, TDP1 (E50K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196488	NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)	LOC126862019, TDP1 (S70T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805649	NM_018319.4(TDP1):c.236G>C (p.Ser79Thr)	LOC126862019, TDP1 (S79T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448655	NM_018319.4(TDP1):c.285G>T (p.Glu95Asp)	LOC126862019, TDP1 (E95D)	Single nucleotide variant (missense 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)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +2 more	GBenign/Likely benign
Select item 807159	NM_018319.4(TDP1):c.341_342del (p.Lys114fs)	LOC126862019, TDP1 (K114fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 995028	NM_018319.4(TDP1):c.346A>G (p.Ile116Val)	LOC126862019, TDP1 (I116V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256278	NM_018319.4(TDP1):c.365_366delinsTA (p.Gly122Val)	LOC126862019, TDP1 (G122V)	Indel (missense variant)	not provided	GUncertain significance
Select item 995029	NM_018319.4(TDP1):c.370G>A (p.Ala124Thr)	LOC126862019, TDP1 (A124T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805650	NM_018319.4(TDP1):c.399C>T (p.Pro133=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 586809	NM_018319.4(TDP1):c.429C>T (p.Asp143=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 448656	NM_018319.4(TDP1):c.537C>T (p.Asn179=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 448657	NM_018319.4(TDP1):c.556A>G (p.Lys186Glu)	LOC126862019, TDP1 (K186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20