TDP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 151239	GRCh38/hg38 14q32.11(chr14:89840367-89986509)x1	EFCAB11, LOC113939941 +4 more	Copy number loss	See cases	GLikely benign
Select item 314810	NM_018319.3(TDP1):c.-292G>T	TDP1	Single nucleotide variant (genic upstream transcript variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314811	NM_018319.3(TDP1):c.-276_-274dupCCG	TDP1	Microsatellite (genic upstream transcript variant)	Autosomal recessive cerebellar ataxia	GBenign
Select item 314812	NM_018319.3(TDP1):c.-278C>T	TDP1	Single nucleotide variant (genic upstream transcript variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314813	NM_018319.3(TDP1):c.-275C>G	TDP1	Single nucleotide variant (genic upstream transcript variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 886936	NM_018319.4(TDP1):c.-264G>A	TDP1	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 886937	NM_018319.4(TDP1):c.-243C>T	TDP1	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888197	NM_018319.4(TDP1):c.-242T>G	TDP1	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314814	NM_018319.4(TDP1):c.-232A>C	TDP1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive cerebellar ataxia	GUncertain significance
Select item 314815	NM_018319.4(TDP1):c.-230-14C>A	TDP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 314816	NM_018319.4(TDP1):c.-230-4G>T	TDP1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314817	NM_018319.4(TDP1):c.-224A>G	TDP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 314818	NM_018319.4(TDP1):c.-177C>T	TDP1	Single nucleotide variant (intron variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GBenign
Select item 314819	NM_018319.4(TDP1):c.-76T>C	TDP1	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314820	NM_018319.4(TDP1):c.-55C>G	TDP1	Single nucleotide variant (intron variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 888198	NM_018319.4(TDP1):c.-38G>A	TDP1	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 314821	NM_018319.4(TDP1):c.-21C>T	TDP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 885077	NM_018319.4(TDP1):c.-8+15T>C	TDP1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 1287106	NM_018319.4(TDP1):c.-7-282T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284010	NM_018319.4(TDP1):c.-3A>G	LOC126862019, TDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 1176334	NM_018319.4(TDP1):c.16G>A (p.Asp6Asn)	LOC126862019, TDP1 (D6N)	Single nucleotide variant (missense variant)	not provided	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 3325086	NM_018319.4(TDP1):c.20A>G (p.Tyr7Cys)	LOC126862019, TDP1 (Y7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 885078	NM_018319.4(TDP1):c.25A>G (p.Arg9Gly)	LOC126862019, TDP1 (R9G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	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 885079	NM_018319.4(TDP1):c.68C>T (p.Pro23Leu)	LOC126862019, TDP1 (P23L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 885080	NM_018319.4(TDP1):c.84A>G (p.Pro28=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 2340605	NM_018319.4(TDP1):c.91T>A (p.Ser31Thr)	LOC126862019, TDP1 (S31T)	Single nucleotide variant (missense variant)	not specified	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 3175408	NM_018319.4(TDP1):c.166C>T (p.His56Tyr)	LOC126862019, TDP1 (H56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335778	NM_018319.4(TDP1):c.167A>G (p.His56Arg)	LOC126862019, TDP1 (H56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524953	NM_018319.4(TDP1):c.194T>A (p.Phe65Tyr)	LOC126862019, TDP1 (F65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325088	NM_018319.4(TDP1):c.206A>G (p.Asp69Gly)	LOC126862019, TDP1 (D69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 196488	NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)	LOC126862019, TDP1 (S70T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +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 726721	NM_018319.4(TDP1):c.237C>T (p.Ser79=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623170	NM_018319.4(TDP1):c.256G>T (p.Gly86Cys)	LOC126862019, TDP1 (G86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540034	NM_018319.4(TDP1):c.276T>G (p.Ser92Arg)	LOC126862019, TDP1 (S92R)	Single nucleotide variant (missense variant)	not specified	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 314824	NM_018319.4(TDP1):c.291A>G (p.Gln97=)	LOC126862019, TDP1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GBenign
Select item 3175410	NM_018319.4(TDP1):c.298A>G (p.Met100Val)	LOC126862019, TDP1 (M100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1810662	NM_018319.4(TDP1):c.321A>C (p.Lys107Asn)	LOC126862019, TDP1 (K107N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175411	NM_018319.4(TDP1):c.322G>A (p.Val108Met)	LOC126862019, TDP1 (V108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555636	NM_018319.4(TDP1):c.330C>G (p.Ile110Met)	LOC126862019, TDP1 (I110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238675	NM_018319.4(TDP1):c.338A>G (p.Glu113Gly)	LOC126862019, TDP1 (E113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 885996	NM_018319.4(TDP1):c.353C>T (p.Ala118Val)	LOC126862019, TDP1 (A118V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	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 3175412	NM_018319.4(TDP1):c.379A>G (p.Thr127Ala)	LOC126862019, TDP1 (T127A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266998	NM_018319.4(TDP1):c.389A>G (p.His130Arg)	LOC126862019, TDP1 (H130R)	Single nucleotide variant (missense variant)	not specified	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 2280644	NM_018319.4(TDP1):c.512T>C (p.Val171Ala)	LOC126862019, TDP1 (V171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870927	NM_018319.4(TDP1):c.525_529del (p.Pro176fs)	LOC126862019, TDP1 (P176fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3325084	NM_018319.4(TDP1):c.529A>G (p.Lys177Glu)	LOC126862019, TDP1 (K177E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 1256731	NM_018319.4(TDP1):c.560-65G>A	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 448658	NM_018319.4(TDP1):c.572C>T (p.Pro191Leu)	TDP1 (P191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995030	NM_018319.4(TDP1):c.585G>A (p.Thr195=)	TDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1181557	NM_018319.4(TDP1):c.603+81C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279007	NM_018319.4(TDP1):c.603+118A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644445	NM_018319.4(TDP1):c.604-6A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 739951	NM_018319.4(TDP1):c.604-4C>G	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 448659	NM_018319.4(TDP1):c.621C>T (p.Asp207=)	TDP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 885997	NM_018319.4(TDP1):c.643T>C (p.Tyr215His)	TDP1 (Y215H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 2331748	NM_018319.4(TDP1):c.650C>T (p.Pro217Leu)	TDP1 (P217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807067	NM_018319.4(TDP1):c.655T>C (p.Phe219Leu)	TDP1 (F219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807069	NM_018319.4(TDP1):c.657C>A (p.Phe219Leu)	TDP1 (F219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684079	NM_018319.4(TDP1):c.660-191C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284030	NM_018319.4(TDP1):c.660-162A>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2592187	NM_018319.4(TDP1):c.695G>A (p.Arg232Gln)	TDP1 (R232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 314827	NM_018319.4(TDP1):c.716A>G (p.His239Arg)	TDP1 (H239R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 618420	NM_018319.4(TDP1):c.731C>G (p.Pro244Arg)	TDP1 (P244R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286200	NM_018319.4(TDP1):c.736G>A (p.Glu246Lys)	TDP1 (E246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1293145	NM_018319.4(TDP1):c.756+128T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280399	NM_018319.4(TDP1):c.756+265G>C	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230476	NM_018319.4(TDP1):c.757-196T>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255093	NM_018319.4(TDP1):c.757-194T>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326764	NM_018319.4(TDP1):c.757-62T>C	TDP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 886996	NM_018319.4(TDP1):c.757G>A (p.Ala253Thr)	TDP1 (A253T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GUncertain significance
Select item 1032036	NM_018319.4(TDP1):c.764T>G (p.Leu255Trp)	TDP1 (L255W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	GUncertain significance
Select item 777244	NM_018319.4(TDP1):c.774G>A (p.Ala258=)	TDP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 314828	NM_018319.4(TDP1):c.789C>T (p.His263=)	TDP1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +1 more	GUncertain significance
Select item 1286692	NM_018319.4(TDP1):c.791+38A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236581	NM_018319.4(TDP1):c.791+52A>G	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287271	NM_018319.4(TDP1):c.791+58C>T	TDP1	Single nucleotide variant (intron variant)	not provided	GBenign

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