Glycerol triheptanoate - ClinVar - NCBI

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The following term was not found in ClinVar: triheptanoate.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6724	NM_001441.3(FAAH):c.385C>A (p.Pro129Thr)	FAAH (P129T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 587367	NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr)	RNPC3 (P474T)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5 +1 more	GPathogenic
Select item 3637	NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)	COQ8A (R213W)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic/Likely pathogenic
Select item 6842	NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)	GNPAT (R211C +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata +1 more	GLikely pathogenic
Select item 692108	NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys)	GNPAT (R187C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	ADRA2B, ANKRD23 +126 more	Copy number gain	See cases	GUncertain significance
Select item 145754	GRCh38/hg38 2q11.1-11.2(chr2:95674981-96052275)x3	ANKRD36C, GPAT2 +6 more	Copy number gain	See cases	GBenign
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	ADRA2B, ANKRD23 +119 more	Copy number loss	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 151425	GRCh38/hg38 2q11.2(chr2:96006224-96039305)x3	GPAT2	Copy number gain	See cases	GBenign
Select item 2597491	NM_001321527.2(GPAT2):c.2390A>G (p.Gln797Arg)	GPAT2 (Q726R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484323	NM_001321527.2(GPAT2):c.2390A>C (p.Gln797Pro)	GPAT2 (Q720P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282040	NM_001321527.2(GPAT2):c.2387G>A (p.Arg796Gln)	GPAT2 (R790Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101123	NM_001321527.2(GPAT2):c.2387G>C (p.Arg796Pro)	GPAT2 (R725P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282042	NM_001321527.2(GPAT2):c.2386C>T (p.Arg796Trp)	GPAT2 (R719W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509930	NM_001321527.2(GPAT2):c.2368A>C (p.Lys790Gln)	GPAT2 (K719Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101122	NM_001321527.2(GPAT2):c.2303C>T (p.Thr768Met)	GPAT2 (T691M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3101121	NM_001321527.2(GPAT2):c.2291T>G (p.Val764Gly)	GPAT2 (V687G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101120	NM_001321527.2(GPAT2):c.2279G>C (p.Arg760Thr)	GPAT2 (E670Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282045	NM_001321527.2(GPAT2):c.2254G>A (p.Ala752Thr)	GPAT2 (A746T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282043	NM_001321527.2(GPAT2):c.2240C>T (p.Ala747Val)	GPAT2 (R637W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369535	NM_001321527.2(GPAT2):c.2234A>C (p.Glu745Ala)	GPAT2 (E668A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235493	NM_001321527.2(GPAT2):c.2212G>A (p.Ala738Thr)	GPAT2 (A661T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473228	NM_001321527.2(GPAT2):c.2206G>A (p.Ala736Thr)	GPAT2 (A736T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101119	NM_001321527.2(GPAT2):c.2198T>G (p.Phe733Cys)	GPAT2 (S730A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101118	NM_001321527.2(GPAT2):c.2176T>C (p.Tyr726His)	GPAT2 (Y649H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478682	NM_001321527.2(GPAT2):c.2154G>T (p.Gln718His)	GPAT2 (Q712H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101117	NM_001321527.2(GPAT2):c.2143C>T (p.Arg715Cys)	GPAT2 (R715C +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3282046	NM_001321527.2(GPAT2):c.2113A>G (p.Lys705Glu)	GPAT2 (K628E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101116	NM_001321527.2(GPAT2):c.2086C>T (p.Leu696Phe)	GPAT2 (L690F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325383	NM_001321527.2(GPAT2):c.2083T>C (p.Phe695Leu)	GPAT2 (F689L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101115	NM_001321527.2(GPAT2):c.2063A>G (p.His688Arg)	GPAT2 (H617R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3101114	NM_001321527.2(GPAT2):c.2045G>C (p.Arg682Thr)	GPAT2 (R611T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205653	NM_001321527.2(GPAT2):c.2039A>G (p.Tyr680Cys)	GPAT2 (Y674C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524810	NM_001321527.2(GPAT2):c.2032G>A (p.Gly678Ser)	GPAT2 (G678S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530361	NM_001321527.2(GPAT2):c.1980A>C (p.Lys660Asn)	GPAT2 (K660N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024509	NM_001321527.2(GPAT2):c.1954C>T (p.Arg652Ter)	GPAT2 (R575* +3 more)	Single nucleotide variant (nonsense +1 more)	Male infertility	GLikely pathogenic
Select item 3282041	NM_001321527.2(GPAT2):c.1906G>A (p.Ala636Thr)	GPAT2 (A636T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024512	NM_001321527.2(GPAT2):c.1879C>T (p.Arg627Trp)	GPAT2 (R550W +3 more)	Single nucleotide variant (missense variant +1 more)	Male infertility	GLikely pathogenic
Select item 2330344	NM_001321527.2(GPAT2):c.1861T>C (p.Cys621Arg)	GPAT2 (C621R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310571	NM_001321527.2(GPAT2):c.1793T>C (p.Leu598Pro)	GPAT2 (L527P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253593	NM_001321527.2(GPAT2):c.1784G>A (p.Arg595His)	GPAT2 (R524H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101113	NM_001321527.2(GPAT2):c.1724C>T (p.Pro575Leu)	GPAT2 (P504L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354576	NM_001321527.2(GPAT2):c.1700G>A (p.Arg567Gln)	GPAT2 (R567Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101112	NM_001321527.2(GPAT2):c.1675G>A (p.Glu559Lys)	GPAT2 (E488K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618330	NM_001321527.2(GPAT2):c.1674C>G (p.Ser558Arg)	GPAT2 (S552R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494385	NM_001321527.2(GPAT2):c.1667T>C (p.Phe556Ser)	GPAT2 (F550S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101110	NM_001321527.2(GPAT2):c.1663G>A (p.Val555Ile)	GPAT2 (V549I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223743	NM_001321527.2(GPAT2):c.1582C>T (p.Arg528Cys)	GPAT2 (R457C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282039	NM_001321527.2(GPAT2):c.1564G>A (p.Val522Met)	GPAT2 (V445M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468872	NM_001321527.2(GPAT2):c.1555C>T (p.Arg519Trp)	GPAT2 (R519W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219377	NM_001321527.2(GPAT2):c.1522C>T (p.Arg508Trp)	GPAT2 (R431W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101109	NM_001321527.2(GPAT2):c.1502T>C (p.Val501Ala)	GPAT2 (V495A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024511	NM_001321527.2(GPAT2):c.1388C>T (p.Thr463Met)	GPAT2 (T392M +1 more)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 2535907	NM_001321527.2(GPAT2):c.1385G>A (p.Ser462Asn)	GPAT2 (S391N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220929	NM_001321527.2(GPAT2):c.1355G>C (p.Ser452Thr)	GPAT2 (S452T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282044	NM_001321527.2(GPAT2):c.1346A>C (p.His449Pro)	GPAT2 (H378P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478681	NM_001321527.2(GPAT2):c.1328T>A (p.Val443Asp)	GPAT2 (V372D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024503	NM_001321527.2(GPAT2):c.1156-1G>A	GPAT2	Single nucleotide variant (splice acceptor variant)	Male infertility	GLikely pathogenic
Select item 3024510	NM_001321527.2(GPAT2):c.1130A>G (p.His377Arg)	GPAT2 (H306R +1 more)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 3101107	NM_001321527.2(GPAT2):c.1078C>T (p.Arg360Cys)	GPAT2 (R360C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101124	NM_001321527.2(GPAT2):c.481G>C (p.Val161Leu)	GPAT2 (V161L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3024492	NM_001321527.2(GPAT2):c.146G>A (p.Arg49His)	GPAT2 (R49H)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 771336	NM_001321527.2(GPAT2):c.135C>T (p.Pro45=)	GPAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512220	NM_001321527.2(GPAT2):c.134C>T (p.Pro45Leu)	GPAT2 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651136	NM_001321527.2(GPAT2):c.126G>A (p.Lys42=)	GPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651137	NM_001321527.2(GPAT2):c.78G>A (p.Ser26=)	GPAT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470833	NM_001321527.2(GPAT2):c.36G>C (p.Gln12His)	GPAT2 (Q12H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1C, LOC129934963 +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 2259459	NM_000408.5(GPD2):c.29C>T (p.Thr10Met)	GPD2 (T10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101292	NM_000408.5(GPD2):c.76C>G (p.Gln26Glu)	GPD2 (Q26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282144	NM_000408.5(GPD2):c.122A>C (p.Lys41Thr)	GPD2 (K41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048119	NM_000408.5(GPD2):c.135C>T (p.Cys45=)	GPD2	Single nucleotide variant (synonymous variant)	GPD2-related disorder	GLikely benign
Select item 3236605	NM_000408.5(GPD2):c.223A>G (p.Ile75Val)	GPD2 (I75V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 382910	NM_000408.5(GPD2):c.233G>A (p.Gly78Glu)	GPD2 (G78E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321529	NM_000408.5(GPD2):c.254C>T (p.Ala85Val)	GPD2 (A85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282147	NM_000408.5(GPD2):c.292G>C (p.Val98Leu)	GPD2 (V98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358767	NM_000408.5(GPD2):c.303T>G (p.Asp101Glu)	GPD2 (D101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736230	NM_000408.5(GPD2):c.363T>C (p.Tyr121=)	GPD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457005	NM_000408.5(GPD2):c.408G>A (p.Met136Ile)	GPD2 (M136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101289	NM_000408.5(GPD2):c.529A>G (p.Ile177Val)	GPD2 (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048014	NM_000408.5(GPD2):c.579T>C (p.Tyr193=)	GPD2	Single nucleotide variant (synonymous variant)	GPD2-related disorder	GLikely benign
Select item 3048678	NM_000408.5(GPD2):c.580G>A (p.Val194Ile)	GPD2 (V194I)	Single nucleotide variant (missense variant)	GPD2-related disorder	GBenign

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