Related gene-specific medical variations for Gene (Select 51567) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3038889	NM_016614.3(TDP2):c.-9G>A	LOC113174982, TDP2	Single nucleotide variant (5 prime UTR variant)	TDP2-related disorder	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 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 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 1695151	NM_016614.3(TDP2):c.75G>A (p.Arg25=)	LOC113174982, TDP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1323684	NM_016614.3(TDP2):c.650del (p.Gly217fs)	TDP2 (G217fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive 23	GPathogenic
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 915274	NM_016614.3(TDP2):c.4G>T (p.Glu2Ter)	LOC113174982, TDP2 (E2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 778885	NM_016614.3(TDP2):c.82C>G (p.Leu28Val)	LOC113174982, TDP2 (L28V)	Single nucleotide variant (missense 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 744152	NM_016614.3(TDP2):c.144C>T (p.Ala48=)	LOC113174982, TDP2	Single nucleotide variant (synonymous 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