1,3,5-Trichloroisoquinoline - ClinVar - NCBI

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The following term was not found in ClinVar: Trichloroisoquinoline.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 2283849	NM_198317.3(KLHL17):c.737G>C (p.Ser246Thr)	KLHL17 (S246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616698	NM_198317.3(KLHL17):c.763G>A (p.Val255Ile)	KLHL17 (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463671	NM_198317.3(KLHL17):c.770G>A (p.Arg257Gln)	KLHL17 (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246810	NM_198317.3(KLHL17):c.792A>T (p.Lys264Asn)	KLHL17 (K264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225854	NM_198317.3(KLHL17):c.808C>T (p.Arg270Cys)	KLHL17 (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378902	NM_198317.3(KLHL17):c.826C>T (p.Arg276Trp)	KLHL17 (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215180	NM_032129.3(PLEKHN1):c.451G>C (p.Glu151Gln)	PLEKHN1 (E151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 430121	NM_198576.4(AGRN):c.752T>C (p.Val251Ala)	AGRN (V251A +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 2236155	NM_017891.5(C1orf159):c.232G>A (p.Glu78Lys)	C1orf159 (E78K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387098	NM_004195.3(TNFRSF18):c.13G>A (p.Gly5Arg)	TNFRSF18 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403556	NM_003327.4(TNFRSF4):c.534G>A (p.Glu178=)	TNFRSF4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 573043	NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr)	TNFRSF4 (I165T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to OX40 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3135762	NM_001014980.3(C1QTNF12):c.637G>A (p.Val213Met)	C1QTNF12 (V213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135761	NM_001014980.3(C1QTNF12):c.601G>A (p.Val201Met)	C1QTNF12 (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135759	NM_001014980.3(C1QTNF12):c.581C>T (p.Ser194Leu)	C1QTNF12 (S194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135758	NM_001014980.3(C1QTNF12):c.565G>A (p.Gly189Ser)	C1QTNF12 (G189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624388	NM_030649.3(ACAP3):c.337G>A (p.Glu113Lys)	ACAP3 (E113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511154	NM_030649.3(ACAP3):c.5C>T (p.Thr2Ile)	ACAP3, LOC129929107 (T2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234696	NM_153339.3(PUSL1):c.619C>T (p.Pro207Ser)	PUSL1 (P207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410764	NM_152228.3(TAS1R3):c.1486G>A (p.Val496Met)	TAS1R3 (V496M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173996	NM_152228.3(TAS1R3):c.1496G>T (p.Cys499Phe)	TAS1R3 (C499F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509020	NM_152228.3(TAS1R3):c.1525C>T (p.Arg509Cys)	TAS1R3 (R509C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327061	NM_152228.3(TAS1R3):c.1529G>A (p.Arg510Gln)	TAS1R3 (R510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463023	NM_152228.3(TAS1R3):c.1558G>A (p.Asp520Asn)	TAS1R3 (D520N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305847	NM_152228.3(TAS1R3):c.1562G>A (p.Cys521Tyr)	TAS1R3 (C521Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358813	NM_152228.3(TAS1R3):c.1564G>A (p.Val522Met)	TAS1R3 (V522M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297866	NM_152228.3(TAS1R3):c.1570T>C (p.Cys524Arg)	TAS1R3 (C524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173997	NM_152228.3(TAS1R3):c.1588C>T (p.Arg530Trp)	TAS1R3 (R530W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620336	NM_152228.3(TAS1R3):c.1593A>T (p.Gln531His)	TAS1R3 (Q531H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +2 more	GPathogenic/Likely pathogenic
Select item 3189220	NM_022834.5(VWA1):c.628C>T (p.Leu210Phe)	VWA1 (L210F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1183255	NM_022834.5(VWA1):c.632-175C>T	VWA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2470762	NM_022834.5(VWA1):c.656A>G (p.His219Arg)	VWA1 (H219R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2664084	NM_022834.5(VWA1):c.662dup (p.Glu222fs)	VWA1 (E222fs)	Duplication (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GLikely pathogenic
Select item 2346761	NM_022834.5(VWA1):c.686G>A (p.Arg229His)	VWA1 (R229H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189221	NM_022834.5(VWA1):c.697C>T (p.Pro233Ser)	VWA1 (P233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189222	NM_022834.5(VWA1):c.712G>A (p.Ala238Thr)	VWA1 (A238T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522097	NM_022834.5(VWA1):c.725A>G (p.Tyr242Cys)	VWA1 (Y242C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189223	NM_022834.5(VWA1):c.760G>A (p.Gly254Arg)	VWA1 (G254R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282498	NM_022834.5(VWA1):c.803G>C (p.Trp268Ser)	VWA1 (W268S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067502	NM_022834.5(VWA1):c.825G>A (p.Pro275=)	VWA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3189224	NM_022834.5(VWA1):c.838G>T (p.Asp280Tyr)	VWA1 (D280Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280996	NM_022834.5(VWA1):c.858G>T (p.Glu286Asp)	VWA1 (E286D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 830328	NM_022834.5(VWA1):c.879del (p.Arg293fs)	VWA1 (R293fs)	Deletion (frameshift variant +1 more)	Neuromuscular disease +1 more	GPathogenic/Likely pathogenic
Select item 2331686	NM_022834.5(VWA1):c.880C>T (p.Pro294Ser)	VWA1 (P294S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355527	NM_022834.5(VWA1):c.899G>A (p.Arg300His)	VWA1 (R300H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1012228	NM_022834.5(VWA1):c.905G>A (p.Arg302Gln)	VWA1 (R302Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2216303	NM_022834.5(VWA1):c.931T>G (p.Ser311Ala)	VWA1 (S311A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781925	NM_022834.5(VWA1):c.933G>A (p.Ser311=)	VWA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2226924	NM_022834.5(VWA1):c.953G>A (p.Gly318Glu)	VWA1 (G318E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189227	NM_022834.5(VWA1):c.970C>G (p.Leu324Val)	VWA1 (L324V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1229112	NM_022834.5(VWA1):c.976G>C (p.Ala326Pro)	VWA1 (A326P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1280635	NM_022834.5(VWA1):c.1005A>G (p.Pro335=)	VWA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1318173	NM_022834.5(VWA1):c.1014_1017dup (p.Ile340fs)	VWA1 (I340fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3189213	NM_022834.5(VWA1):c.1018A>G (p.Ile340Val)	VWA1 (I340V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526199	NM_022834.5(VWA1):c.1031G>A (p.Arg344Gln)	VWA1 (R344Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189214	NM_022834.5(VWA1):c.1043T>C (p.Leu348Pro)	VWA1 (L348P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1675331	NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter)	VWA1 (Y364*)	Duplication (nonsense +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more	GLikely pathogenic
Select item 2299350	NM_022834.5(VWA1):c.1095C>A (p.His365Gln)	VWA1 (H365Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594493	NM_022834.5(VWA1):c.1100A>T (p.Gln367Leu)	VWA1 (Q367L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394785	NM_022834.5(VWA1):c.1120G>T (p.Gly374Trp)	VWA1 (G374W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065720	NM_022834.5(VWA1):c.1121G>A (p.Gly374Glu)	VWA1 (G374E)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GUncertain significance
Select item 3189215	NM_022834.5(VWA1):c.1144C>T (p.Pro382Ser)	VWA1 (P382S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2584513	NM_022834.5(VWA1):c.1169_1217del (p.Leu390fs)	VWA1 (L390fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GLikely pathogenic
Select item 775488	NM_022834.5(VWA1):c.1233C>G (p.Arg411=)	VWA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3239565	NM_022834.5(VWA1):c.1255G>A (p.Ala419Thr)	VWA1 (A419T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2254302	NM_022834.5(VWA1):c.1270G>A (p.Gly424Ser)	VWA1 (G424S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1878315	NM_022834.5(VWA1):c.1275GCGCCC[3] (p.Pro431_Val432insArgPro)	VWA1	Microsatellite (inframe_insertion +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more	GUncertain significance
Select item 2614987	NM_022834.5(VWA1):c.1274C>T (p.Pro425Leu)	VWA1 (P425L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385398	NM_022834.5(VWA1):c.1295T>C (p.Val432Ala)	VWA1 (V432A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3189216	NM_022834.5(VWA1):c.1303G>A (p.Ala435Thr)	VWA1 (A435T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316660	NM_022834.5(VWA1):c.1303G>T (p.Ala435Ser)	VWA1 (A435S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2920806	NM_022834.5(VWA1):c.1312C>A (p.Pro438Thr)	VWA1 (P438T)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7	GUncertain significance
Select item 2219466	NM_022834.5(VWA1):c.1321G>A (p.Ala441Thr)	VWA1 (A441T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489515	NM_022834.5(VWA1):c.1327C>T (p.Arg443Cys)	VWA1 (R443C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1278309	NM_022834.5(VWA1):c.*18G>C	VWA1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1282684	NM_022834.5(VWA1):c.*40T>C	VWA1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2343523	NM_001039211.3(ATAD3C):c.389G>A (p.Arg130Gln)	ATAD3C (R130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130722	NM_001039211.3(ATAD3C):c.392G>A (p.Arg131Gln)	ATAD3C (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216823	NM_001039211.3(ATAD3C):c.413A>G (p.Asp138Gly)	ATAD3C (D138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1213715	NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del	ATAD3A, ATAD3B +4 more	Deletion	Harel-Yoon syndrome	GLikely pathogenic
Select item 1675332	NM_001170535.3(ATAD3A):c.19A>G (p.Ile7Val)	ATAD3A (I7V)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GBenign
Select item 985480	NM_001170535.3(ATAD3A):c.220G>T (p.Ala74Ser)	ATAD3A (A74S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 432628	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	ATAD3A (L77V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 985071	NM_001170535.3(ATAD3A):c.283-87C>A	ATAD3A (R114S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 915434	NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn)	ATAD3A (D55N +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 2314950	NM_001170535.3(ATAD3A):c.445-3C>T	ATAD3A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 225696	NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	ATAD3A (R528W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 522903	NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr)	ATAD3A (H613Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1185474	NM_001170535.3(ATAD3A):c.*94G>A	ATAD3A	Single nucleotide variant (3 prime UTR variant)	Harel-Yoon syndrome +2 more	GBenign
Select item 1185475	NM_001170535.3(ATAD3A):c.*146C>G	ATAD3A	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GBenign
Select item 1185476	NM_001170535.3(ATAD3A):c.*147G>C	ATAD3A	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GBenign
Select item 1185477	NM_001170535.3(ATAD3A):c.*154C>T	ATAD3A	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GBenign
Select item 161194	NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)	TMEM240 (R116C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 21	GUncertain significance
Select item 523023	NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)	TMEM240 (V115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2604691	NM_014188.3(SSU72):c.494C>T (p.Thr165Met)	SSU72 (T165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266549	NM_033486.3(CDK11B):c.325C>G (p.Arg109Gly)	CDK11B (R109G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357352	NM_023018.5(NADK):c.263+2165G>A	NADK (V127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173124	NM_023018.5(NADK):c.263+2126G>A	NADK (G114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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