ClinVar for Gene (Select 339976) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 188

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3328959	NM_178556.5(TRIML1):c.200C>T (p.Ser67Leu)	TRIML1 (S67L)	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 3328957	NM_178556.5(TRIML1):c.244C>T (p.Arg82Trp)	TRIML1 (R82W)	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
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 3242295	GRCh37/hg19 4q35.2(chr4:188112588-189574747)x1	TRIML1, TRIML2 +1 more	Copy number loss	not provided	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 3182846	NM_178556.5(TRIML1):c.941G>C (p.Arg314Thr)	TRIML1 (R314T)	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 3182844	NM_178556.5(TRIML1):c.857C>A (p.Thr286Lys)	TRIML1 (T286K)	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 3182841	NM_178556.5(TRIML1):c.260A>G (p.Gln87Arg)	TRIML1 (Q87R)	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 3182839	NM_178556.5(TRIML1):c.148C>T (p.Pro50Ser)	TRIML1 (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148916	GRCh37/hg19 4q35.2(chr4:188221101-190957460)x1	FRG1, FRG2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 3148911	GRCh37/hg19 4q35.2(chr4:188889659-190957460)x1	FRG1, FRG2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3148855	GRCh37/hg19 4q35.2(chr4:188339897-190957460)x1	FRG1, FRG2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	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 2685138	GRCh37/hg19 4q35.1-35.2(chr4:187040986-190957473)x1	CYP4V2, F11 +9 more	Copy number loss	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
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 2602344	NM_178556.5(TRIML1):c.1160A>C (p.Tyr387Ser)	TRIML1 (Y387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2596585	NM_178556.5(TRIML1):c.101G>C (p.Ser34Thr)	TRIML1 (S34T)	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 2583028	GRCh37/hg19 4q35.2(chr4:188923962-190948359)x1	FRG1, FRG2 +3 more	Copy number loss	not provided	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 2516990	NM_178556.5(TRIML1):c.905C>T (p.Ser302Leu)	TRIML1 (S302L)	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 2486451	NM_178556.5(TRIML1):c.464C>T (p.Ala155Val)	TRIML1 (A155V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485826	NM_178556.5(TRIML1):c.1381A>G (p.Ile461Val)	TRIML1 (I461V)	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 2466871	NM_178556.5(TRIML1):c.215G>C (p.Gly72Ala)	TRIML1 (G72A)	Single nucleotide variant (missense variant)	not specified	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 2331307	NM_178556.5(TRIML1):c.620A>T (p.Asn207Ile)	TRIML1 (N207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318768	NM_178556.5(TRIML1):c.1271C>T (p.Thr424Met)	TRIML1 (T424M)	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 2298889	NM_178556.5(TRIML1):c.166T>A (p.Cys56Ser)	TRIML1 (C56S)	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 2265972	NM_178556.5(TRIML1):c.989T>C (p.Val330Ala)	TRIML1 (V330A)	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 2218995	NM_178556.5(TRIML1):c.962C>T (p.Pro321Leu)	TRIML1 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810293	GRCh37/hg19 4q35.2(chr4:187853427-189952978)x1	TRIML2, ZFP42 +1 more	Copy number loss	not provided	Gnot provided
Select item 1808963	GRCh37/hg19 4q35.2(chr4:187853428-190957473)x3	FRG1, FRG2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1703259	Single allele	CYP4V2, DBET +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1527146	GRCh37/hg19 4q35.1-35.2(chr4:186686044-190842022)	CYP4V2, F11 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1340879	GRCh37/hg19 4q35.2(chr4:189019719-189977683)x1	TRIML1, TRIML2	Copy number loss	not provided	GLikely benign
Select item 1328454	GRCh37/hg19 4q35.2(chr4:188450599-190190973)x1	TRIML1, TRIML2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	CFAP96, CFAP97 +36 more	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 983164	GRCh37/hg19 4q35.2(chr4:188898012-190542602)x1	TRIML2, TRIML1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 979496	GRCh37/hg19 4q35.2(chr4:187391214-190957473)x1	ZFP42, FAT1 +5 more	Copy number loss	not provided	GPathogenic
Select item 979495	GRCh37/hg19 4q35.2(chr4:187878164-189423952)x3	TRIML2, TRIML1 +1 more	Copy number gain	not provided	GLikely benign
Select item 979494	GRCh37/hg19 4q35.2(chr4:188537810-189160499)x1	ZFP42, TRIML2 +1 more	Copy number loss	not provided	GLikely benign
Select item 814649	GRCh37/hg19 4q35.2(chr4:188815813-189952978)x1	ZFP42, TRIML2 +1 more	Copy number loss	not provided	GLikely benign
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	MTNR1A, PDLIM3 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 635949	Single allele	TRIML1, TRIML2 +1 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	CLDN22, FAM149A +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 more	Copy number loss	not provided	GPathogenic
Select item 563017	GRCh37/hg19 4q35.2(chr4:188895821-190081156)x3	ZFP42, TRIML1 +1 more	Copy number gain	not provided	GLikely benign
Select item 563016	GRCh37/hg19 4q35.2(chr4:188478516-190957473)x1	TRIML2, FRG2 +3 more	Copy number loss	not provided	GPathogenic
Select item 563010	GRCh37/hg19 4q35.1-35.2(chr4:186496069-189142432)x3	MTNR1A, KLKB1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 560041	Single allele	ANKRD37, ACSL1 +43 more	Deletion	not provided	GPathogenic
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443433	GRCh37/hg19 4q35.2(chr4:188675356-190484540)x3	TRIML1, TRIML2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443097	GRCh37/hg19 4q35.2(chr4:188675356-190491427)x3	TRIML1, TRIML2 +1 more	Copy number gain	See cases	GLikely benign
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic

<< First< Prev

Page of 2