TRHDE[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +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
Select item 2487848	NM_013381.3(TRHDE):c.903C>G (p.His301Gln)	TRHDE (H301Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182155	NM_013381.3(TRHDE):c.904G>C (p.Gly302Arg)	TRHDE (G302R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325123	NM_013381.3(TRHDE):c.904G>T (p.Gly302Trp)	TRHDE (G257W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320982	NM_013381.3(TRHDE):c.1114A>C (p.Met372Leu)	TRHDE (M372L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643180	NM_013381.3(TRHDE):c.1185T>G (p.Val395=)	TRHDE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536268	NM_013381.3(TRHDE):c.1288A>G (p.Lys430Glu)	TRHDE (K385E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148278	GRCh38/hg38 12q21.1(chr12:72426778-73114825)x1	LOC126861571, LOC129390503 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3182144	NM_013381.3(TRHDE):c.1495G>A (p.Val499Met)	TRHDE (V499M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281076	NM_013381.3(TRHDE):c.1531G>T (p.Ala511Ser)	TRHDE (A466S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182145	NM_013381.3(TRHDE):c.1562A>G (p.Tyr521Cys)	TRHDE (Y521C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264697	NM_013381.3(TRHDE):c.1583T>C (p.Met528Thr)	TRHDE (M483T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182146	NM_013381.3(TRHDE):c.2027A>G (p.Lys676Arg)	TRHDE (K631R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550770	NM_013381.3(TRHDE):c.2146A>G (p.Thr716Ala)	TRHDE (T716A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207843	NM_013381.3(TRHDE):c.2182A>T (p.Ile728Phe)	TRHDE (I683F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 3182148	NM_013381.3(TRHDE):c.2254C>T (p.Arg752Trp)	TRHDE (R707W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148641	GRCh38/hg38 12q21.1(chr12:72604773-73193301)x3	LINC02444, LOC126861571 +3 more	Copy number gain	See cases	GLikely benign
Select item 3182149	NM_013381.3(TRHDE):c.2443C>T (p.Arg815Cys)	TRHDE (R815C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600533	NM_013381.3(TRHDE):c.2444G>A (p.Arg815His)	TRHDE (R770H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784248	NM_013381.3(TRHDE):c.2470-4T>C	TRHDE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2221886	NM_013381.3(TRHDE):c.2576G>A (p.Arg859His)	TRHDE (R859H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709904	NM_013381.3(TRHDE):c.2703A>C (p.Val901=)	TRHDE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3182151	NM_013381.3(TRHDE):c.2864A>G (p.Asn955Ser)	TRHDE (N910S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396654	NM_013381.3(TRHDE):c.2978A>G (p.Asn993Ser)	TRHDE (N948S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478307	NM_013381.3(TRHDE):c.3079A>T (p.Met1027Leu)	TRHDE (M982L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301954	NM_013381.3(TRHDE):c.3139G>C (p.Ala1047Pro)	TRHDE (A1002P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493517	NM_013381.3(TRHDE):c.3148C>A (p.Arg1050Ser)	TRHDE (R1005S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 815536	GRCh37/hg19 12q21.1(chr12:72872506-73787836)x1	TRHDE	Copy number loss	not provided	GUncertain significance
Select item 815535	GRCh37/hg19 12q21.1(chr12:72742655-73978419)x1	TRHDE	Copy number loss	not provided	GUncertain significance
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 443164	GRCh37/hg19 12q21.1(chr12:72647885-73274865)x3	TRHDE	Copy number gain	See cases	GUncertain significance
Select item 442702	GRCh37/hg19 12q21.1(chr12:72720863-73257132)x1	TRHDE	Copy number loss	See cases	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 55