TRHDE-AS1[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 148640	GRCh38/hg38 12q21.1(chr12:72270983-72847738)x3	LOC129390503, TRHDE +1 more	Copy number gain	See cases	GLikely benign
Select item 2305666	NM_013381.3(TRHDE):c.188C>T (p.Pro63Leu)	TRHDE, TRHDE-AS1 (P18L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182147	NM_013381.3(TRHDE):c.326G>T (p.Arg109Leu)	TRHDE, TRHDE-AS1 (R109L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2486892	NM_013381.3(TRHDE):c.341G>A (p.Gly114Glu)	TRHDE, TRHDE-AS1 (G114E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358550	NM_013381.3(TRHDE):c.347G>T (p.Ser116Ile)	TRHDE, TRHDE-AS1 (S71I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182152	NM_013381.3(TRHDE):c.488G>A (p.Gly163Glu)	TRHDE, TRHDE-AS1 (G118E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182153	NM_013381.3(TRHDE):c.494C>A (p.Thr165Lys)	TRHDE, TRHDE-AS1 (T120K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332922	NM_013381.3(TRHDE):c.608T>C (p.Met203Thr)	TRHDE, TRHDE-AS1 (M158T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 784247	NM_013381.3(TRHDE):c.633G>A (p.Glu211=)	TRHDE, TRHDE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2475544	NM_013381.3(TRHDE):c.685G>A (p.Ala229Thr)	TRHDE, TRHDE-AS1 (A229T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317722	NM_013381.3(TRHDE):c.692G>T (p.Arg231Leu)	TRHDE, TRHDE-AS1 (R231L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182154	NM_013381.3(TRHDE):c.818A>G (p.Gln273Arg)	TRHDE, TRHDE-AS1 (Q228R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272026	NM_013381.3(TRHDE):c.863A>C (p.Asn288Thr)	TRHDE, TRHDE-AS1 (N243T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance