LOC113174982[gene] - ClinVar - NCBI

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Items: 18

	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 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 3137620	NM_018473.4(ACOT13):c.26G>A (p.Arg9Gln)	ACOT13, LOC113174982 (R9Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance