TDP2[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 3175413	NM_016614.3(TDP2):c.1073T>C (p.Leu358Ser)	TDP2 (L358S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516513	NM_016614.3(TDP2):c.1045A>G (p.Ser349Gly)	TDP2 (S349G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656287	NM_016614.3(TDP2):c.1044T>G (p.Pro348=)	TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555880	NM_016614.3(TDP2):c.1034G>A (p.Gly345Asp)	TDP2 (G345D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560402	NM_016614.3(TDP2):c.952A>C (p.Ile318Leu)	TDP2 (I318L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222054	NM_016614.3(TDP2):c.950G>A (p.Arg317Gln)	TDP2 (R317Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442386	NM_016614.3(TDP2):c.949C>T (p.Arg317Ter)	TDP2 (R317*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive 23	GPathogenic
Select item 718735	NM_016614.3(TDP2):c.919A>G (p.Ile307Val)	TDP2 (I307V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 252709	NM_016614.3(TDP2):c.860T>G (p.Leu287Trp)	TDP2 (L287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175418	NM_016614.3(TDP2):c.850T>C (p.Trp284Arg)	TDP2 (W284R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175417	NM_016614.3(TDP2):c.773T>C (p.Ile258Thr)	TDP2 (I258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026952	NM_016614.3(TDP2):c.772A>G (p.Ile258Val)	TDP2 (I258V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2544780	NM_016614.3(TDP2):c.731T>A (p.Val244Asp)	TDP2 (V244D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514832	NM_016614.3(TDP2):c.704C>T (p.Ala235Val)	TDP2 (A235V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1323684	NM_016614.3(TDP2):c.650del (p.Gly217fs)	TDP2 (G217fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive 23	GPathogenic
Select item 720364	NM_016614.3(TDP2):c.648A>C (p.Ser216=)	TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743423	NM_016614.3(TDP2):c.637-5T>C	TDP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 812705	NM_016614.3(TDP2):c.636+3_636+6del	TDP2	Deletion (splice donor variant)	Cerebellar ataxia	GPathogenic
Select item 1325184	NM_016614.3(TDP2):c.635_636+2del	TDP2	Deletion (splice donor variant)	Spinocerebellar ataxia, autosomal recessive 23	GLikely pathogenic
Select item 2598969	NM_016614.3(TDP2):c.580_581del (p.Gln194fs)	TDP2 (Q194fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 598245	NM_016614.3(TDP2):c.560C>T (p.Ser187Leu)	TDP2 (S187L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3175416	NM_016614.3(TDP2):c.515C>T (p.Thr172Ile)	TDP2 (T172I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727156	NM_016614.3(TDP2):c.501T>C (p.Asn167=)	TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614179	NM_016614.3(TDP2):c.489G>C (p.Lys163Asn)	TDP2 (K163N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352347	NM_016614.3(TDP2):c.431G>A (p.Ser144Asn)	TDP2 (S144N)	Single nucleotide variant (missense variant)	TDP2-related disorder	GUncertain significance
Select item 226424	NM_016614.3(TDP2):c.425+1G>A	TDP2	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia, autosomal recessive 23	GPathogenic
Select item 226425	NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter)	TDP2 (S138*)	Indel (nonsense)	Spinocerebellar ataxia, autosomal recessive 23	GPathogenic
Select item 3175415	NM_016614.3(TDP2):c.406G>T (p.Val136Leu)	TDP2 (V136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2041505	NM_016614.3(TDP2):c.400C>T (p.Arg134Ter)	TDP2 (R134*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2236290	NM_016614.3(TDP2):c.397G>A (p.Ala133Thr)	TDP2 (A133T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197639	NM_016614.3(TDP2):c.392_395del (p.Glu131fs)	TDP2 (E131fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2139718	NM_016614.3(TDP2):c.390dup (p.Glu131fs)	TDP2 (E131fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 620174	NM_016614.3(TDP2):c.389C>G (p.Ser130Ter)	TDP2 (S130*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2238172	NM_016614.3(TDP2):c.372A>C (p.Leu124Phe)	TDP2 (L124F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727113	NM_016614.3(TDP2):c.266A>G (p.Asn89Ser)	TDP2 (N89S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3175414	NM_016614.3(TDP2):c.236C>T (p.Ser79Phe)	TDP2 (S79F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514322	NM_016614.3(TDP2):c.226G>A (p.Glu76Lys)	TDP2 (E76K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409702	NM_016614.3(TDP2):c.214G>A (p.Glu72Lys)	TDP2 (E72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278896	NM_016614.3(TDP2):c.209C>T (p.Ala70Val)	TDP2 (A70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290192	NM_016614.3(TDP2):c.181T>C (p.Tyr61His)	TDP2 (Y61H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731225	NM_016614.3(TDP2):c.180C>T (p.Ser60=)	TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709650	NM_016614.3(TDP2):c.175A>G (p.Asn59Asp)	TDP2 (N59D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2554457	NM_016614.3(TDP2):c.148A>C (p.Asn50His)	LOC113174982, TDP2 (N50H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744152	NM_016614.3(TDP2):c.144C>T (p.Ala48=)	LOC113174982, TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024668	NM_016614.3(TDP2):c.111C>T (p.Ser37=)	LOC113174982, TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529575	NM_016614.3(TDP2):c.97G>C (p.Ala33Pro)	LOC113174982, TDP2 (A33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030570	NM_016614.3(TDP2):c.97G>T (p.Ala33Ser)	LOC113174982, TDP2 (A33S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 23	GUncertain significance
Select item 778885	NM_016614.3(TDP2):c.82C>G (p.Leu28Val)	LOC113174982, TDP2 (L28V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1695151	NM_016614.3(TDP2):c.75G>A (p.Arg25=)	LOC113174982, TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809885	NM_016614.3(TDP2):c.54C>T (p.Gly18=)	LOC113174982, TDP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3239027	NM_016614.3(TDP2):c.18C>T (p.Cys6=)	LOC113174982, TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770922	NM_016614.3(TDP2):c.17G>T (p.Cys6Phe)	LOC113174982, TDP2 (C6F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730556	NM_016614.3(TDP2):c.9G>A (p.Leu3=)	LOC113174982, TDP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 915274	NM_016614.3(TDP2):c.4G>T (p.Glu2Ter)	LOC113174982, TDP2 (E2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3038889	NM_016614.3(TDP2):c.-9G>A	LOC113174982, TDP2	Single nucleotide variant (5 prime UTR variant)	TDP2-related disorder	GLikely benign
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 814803	GRCh37/hg19 6p22.3(chr6:24497678-25168510)x3	TDP2, ACOT13 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 63