TRIML1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 150816	GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1	CYP4V2, F11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 148762	GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1	CYP4V2, DBET +72 more	Copy number loss	See cases	GUncertain significance
Select item 146635	GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1	CYP4V2, F11 +62 more	Copy number loss	See cases	GPathogenic
Select item 1703259	Single allele	CYP4V2, DBET +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 152451	GRCh38/hg38 4q35.2(chr4:186554379-189324047)x1	FAT1, LINC01060 +46 more	Copy number loss	See cases	GUncertain significance
Select item 152922	GRCh38/hg38 4q35.2(chr4:186625270-190018185)x1	FAT1, FRG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 3024384	GRCh38/hg38 4q35.2(chr4:187200844-188870692)	LINC01060, LINC02374 +27 more	Copy number gain	Autism spectrum disorder	GLikely benign
Select item 60220	GRCh38/hg38 4q35.2(chr4:187347785-190042639)x1	FRG1, FRG1-DT +42 more	Copy number loss	See cases	GUncertain significance
Select item 155676	GRCh38/hg38 4q35.2(chr4:187528920-188205072)x1	LINC02434, LINC02492 +12 more	Copy number loss	See cases	GLikely benign
Select item 155362	GRCh38/hg38 4q35.2(chr4:187528920-188139456)x3	LINC02492, LOC105377603 +9 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 153645	GRCh38/hg38 4q35.2(chr4:187557765-188173833)x1	LINC02434, LINC02492 +11 more	Copy number loss	See cases	GUncertain significance
Select item 60221	GRCh38/hg38 4q35.2(chr4:187589886-188831793)x1	LINC01060, LINC02434 +22 more	Copy number loss	See cases	GUncertain significance
Select item 152438	GRCh38/hg38 4q35.2(chr4:187669318-188587217)x3	LINC01060, LINC02434 +15 more	Copy number gain	See cases	GBenign
Select item 149465	GRCh38/hg38 4q35.2(chr4:187889777-188486687)x3	LINC01060, LINC02434 +11 more	Copy number gain	See cases	GLikely benign
Select item 150843	GRCh38/hg38 4q35.2(chr4:187945188-188993073)x3	LINC01060, LINC02434 +17 more	Copy number gain	See cases	GLikely benign
Select item 154576	GRCh38/hg38 4q35.2(chr4:187987662-189975519)x1	FRG1, FRG1-DT +30 more	Copy number loss	See cases	GUncertain significance
Select item 145625	GRCh38/hg38 4q35.2(chr4:188045269-188548970)x1	LINC01060, LINC02434 +9 more	Copy number loss	See cases	GLikely benign
Select item 150148	GRCh38/hg38 4q35.2(chr4:188115081-188915538)x3	LINC01060, LINC02434 +13 more	Copy number gain	See cases	GLikely benign
Select item 146497	GRCh38/hg38 4q35.2(chr4:188115081-188782098)x3	LINC01060, LINC02434 +13 more	Copy number gain	See cases	GUncertain significance
Select item 60223	GRCh38/hg38 4q35.2(chr4:188126577-188624331)x1	LINC01060, LINC02434 +8 more	Copy number loss	See cases	GUncertain significance
Select item 2522601	NM_178556.5(TRIML1):c.56G>C (p.Cys19Ser)	TRIML1 (C19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328960	NM_178556.5(TRIML1):c.64T>C (p.Tyr22His)	TRIML1 (Y22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596585	NM_178556.5(TRIML1):c.101G>C (p.Ser34Thr)	TRIML1 (S34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182839	NM_178556.5(TRIML1):c.148C>T (p.Pro50Ser)	TRIML1 (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298889	NM_178556.5(TRIML1):c.166T>A (p.Cys56Ser)	TRIML1 (C56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182840	NM_178556.5(TRIML1):c.188C>T (p.Pro63Leu)	TRIML1 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328959	NM_178556.5(TRIML1):c.200C>T (p.Ser67Leu)	TRIML1 (S67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466871	NM_178556.5(TRIML1):c.215G>C (p.Gly72Ala)	TRIML1 (G72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328957	NM_178556.5(TRIML1):c.244C>T (p.Arg82Trp)	TRIML1 (R82W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182841	NM_178556.5(TRIML1):c.260A>G (p.Gln87Arg)	TRIML1 (Q87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472712	NM_178556.5(TRIML1):c.325G>A (p.Glu109Lys)	TRIML1 (E109K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182842	NM_178556.5(TRIML1):c.334G>A (p.Gly112Arg)	TRIML1 (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613116	NM_178556.5(TRIML1):c.358C>T (p.His120Tyr)	TRIML1 (H120Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486451	NM_178556.5(TRIML1):c.464C>T (p.Ala155Val)	TRIML1 (A155V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598448	NM_178556.5(TRIML1):c.535G>C (p.Val179Leu)	TRIML1 (V179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331307	NM_178556.5(TRIML1):c.620A>T (p.Asn207Ile)	TRIML1 (N207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512839	NM_178556.5(TRIML1):c.763G>A (p.Glu255Lys)	TRIML1 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328958	NM_178556.5(TRIML1):c.844A>G (p.Arg282Gly)	TRIML1 (R282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182844	NM_178556.5(TRIML1):c.857C>A (p.Thr286Lys)	TRIML1 (T286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249521	NM_178556.5(TRIML1):c.892T>C (p.Tyr298His)	TRIML1 (Y298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516990	NM_178556.5(TRIML1):c.905C>T (p.Ser302Leu)	TRIML1 (S302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182845	NM_178556.5(TRIML1):c.912T>A (p.Asp304Glu)	TRIML1 (D304E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182846	NM_178556.5(TRIML1):c.941G>C (p.Arg314Thr)	TRIML1 (R314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182847	NM_178556.5(TRIML1):c.944A>C (p.Gln315Pro)	TRIML1 (Q315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218995	NM_178556.5(TRIML1):c.962C>T (p.Pro321Leu)	TRIML1 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265972	NM_178556.5(TRIML1):c.989T>C (p.Val330Ala)	TRIML1 (V330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588014	NM_178556.5(TRIML1):c.998C>T (p.Thr333Ile)	TRIML1 (T333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328955	NM_178556.5(TRIML1):c.1004T>A (p.Ile335Asn)	TRIML1 (I335N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312193	NM_178556.5(TRIML1):c.1013G>C (p.Ser338Thr)	TRIML1 (S338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602344	NM_178556.5(TRIML1):c.1160A>C (p.Tyr387Ser)	TRIML1 (Y387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161839	NM_178556.5(TRIML1):c.1188A>T (p.Lys396Asn)	TRIML1 (K396N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2459355	NM_178556.5(TRIML1):c.1198G>A (p.Val400Ile)	TRIML1 (V400I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279654	NM_178556.5(TRIML1):c.1244C>A (p.Ser415Tyr)	TRIML1 (S415Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328956	NM_178556.5(TRIML1):c.1256C>T (p.Ala419Val)	TRIML1 (A419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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