TRIM58[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +169 more	Copy number gain	See cases	GPathogenic
Select item 148292	GRCh38/hg38 1q44(chr1:247389261-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GLikely benign
Select item 154696	GRCh38/hg38 1q44(chr1:247404783-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 146611	GRCh38/hg38 1q44(chr1:247532391-247897117)x3	GCSAML, LOC102724446 +17 more	Copy number gain	See cases	GBenign
Select item 144301	GRCh38/hg38 1q44(chr1:247613108-248093562)x3	LOC102724446, LOC115804254 +20 more	Copy number gain	See cases	GBenign
Select item 149799	GRCh38/hg38 1q44(chr1:247613235-248521590)x3	LOC102724446, LOC115804254 +39 more	Copy number gain	See cases	GBenign
Select item 152683	GRCh38/hg38 1q44(chr1:247671583-248317448)x3	LOC115804254, LOC126806088 +25 more	Copy number gain	See cases	GBenign
Select item 150353	GRCh38/hg38 1q44(chr1:247682929-248521590)x3	LOC115804254, LOC126806088 +36 more	Copy number gain	See cases	GBenign
Select item 150051	GRCh38/hg38 1q44(chr1:247682929-248622297)x3	LOC115804254, LOC126806088 +39 more	Copy number gain	See cases	GBenign
Select item 146773	GRCh38/hg38 1q44(chr1:247682929-248093696)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 147939	GRCh38/hg38 1q44(chr1:247682931-248093562)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 57481	GRCh38/hg38 1q44(chr1:247682931-248609256)x3	LOC115804254, LOC126806088 +39 more	Copy number gain	See cases	GBenign
Select item 154541	GRCh38/hg38 1q44(chr1:247716624-248114768)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 149015	GRCh38/hg38 1q44(chr1:247798967-248376495)x1	LOC115804254, LOC126806088 +23 more	Copy number loss	See cases	GLikely benign
Select item 147276	GRCh38/hg38 1q44(chr1:247798967-248521608)x3	LOC115804254, LOC126806088 +31 more	Copy number gain	See cases	GBenign
Select item 2228291	NM_015431.4(TRIM58):c.7T>C (p.Trp3Arg)	TRIM58 (W3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592447	NM_015431.4(TRIM58):c.10G>A (p.Ala4Thr)	TRIM58 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523829	NM_015431.4(TRIM58):c.19G>C (p.Gly7Arg)	TRIM58 (G7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390594	NM_015431.4(TRIM58):c.25C>T (p.Arg9Trp)	TRIM58 (R9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182622	NM_015431.4(TRIM58):c.215A>G (p.Asn72Ser)	TRIM58 (N72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516812	NM_015431.4(TRIM58):c.277G>A (p.Ala93Thr)	TRIM58 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328845	NM_015431.4(TRIM58):c.297C>G (p.His99Gln)	TRIM58 (H99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598947	NM_015431.4(TRIM58):c.341T>C (p.Leu114Pro)	TRIM58 (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182623	NM_015431.4(TRIM58):c.398A>T (p.Gln133Leu)	TRIM58 (Q133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250194	NM_015431.4(TRIM58):c.425A>G (p.Lys142Arg)	TRIM58 (K142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473827	NM_015431.4(TRIM58):c.443A>T (p.Glu148Val)	TRIM58 (E148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306130	NM_015431.4(TRIM58):c.488A>G (p.Asn163Ser)	TRIM58 (N163S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328848	NM_015431.4(TRIM58):c.490G>A (p.Val164Met)	TRIM58 (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460461	NM_015431.4(TRIM58):c.541C>T (p.Arg181Cys)	TRIM58 (R181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233897	NM_015431.4(TRIM58):c.617C>T (p.Ala206Val)	TRIM58 (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182624	NM_015431.4(TRIM58):c.644T>G (p.Leu215Arg)	TRIM58 (L215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328846	NM_015431.4(TRIM58):c.769A>G (p.Arg257Gly)	TRIM58 (R257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384544	NM_015431.4(TRIM58):c.821A>G (p.Lys274Arg)	TRIM58 (K274R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328850	NM_015431.4(TRIM58):c.833G>A (p.Cys278Tyr)	TRIM58 (C278Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151448	GRCh38/hg38 1q44(chr1:247870345-247871020)x3	TRIM58	Copy number gain	See cases	GBenign
Select item 2385849	NM_015431.4(TRIM58):c.922G>A (p.Ala308Thr)	TRIM58 (A308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614260	NM_015431.4(TRIM58):c.959G>A (p.Arg320Lys)	TRIM58 (R320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324764	NM_015431.4(TRIM58):c.961G>C (p.Asp321His)	TRIM58 (D321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365786	NM_015431.4(TRIM58):c.1013T>C (p.Leu338Ser)	TRIM58 (L338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328844	NM_015431.4(TRIM58):c.1016A>G (p.Gln339Arg)	TRIM58 (Q339R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395529	NM_015431.4(TRIM58):c.1102C>T (p.Pro368Ser)	TRIM58 (P368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237985	NM_015431.4(TRIM58):c.1103C>G (p.Pro368Arg)	TRIM58 (P368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295709	NM_015431.4(TRIM58):c.1130C>T (p.Pro377Leu)	TRIM58 (P377L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548163	NM_015431.4(TRIM58):c.1159C>A (p.Leu387Met)	TRIM58 (L387M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328849	NM_015431.4(TRIM58):c.1171G>A (p.Glu391Lys)	TRIM58 (E391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226017	NM_015431.4(TRIM58):c.1207C>T (p.Leu403Phe)	TRIM58 (L403F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289141	NM_015431.4(TRIM58):c.1237A>G (p.Ile413Val)	TRIM58 (I413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182621	NM_015431.4(TRIM58):c.1325G>T (p.Gly442Val)	TRIM58 (G442V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328852	NM_015431.4(TRIM58):c.1361C>A (p.Thr454Asn)	TRIM58 (T454N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328847	NM_015431.4(TRIM58):c.1417G>A (p.Asp473Asn)	TRIM58 (D473N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328851	NM_015431.4(TRIM58):c.1442T>A (p.Val481Glu)	TRIM58 (V481E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685987	GRCh37/hg19 1q44(chr1:247755802-248142441)x1	OR2L13, OR2G3 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1808196	GRCh37/hg19 1q44(chr1:247588318-248022379)x3	GCSAML, NLRP3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1710923	GRCh37/hg19 1q44(chr1:246850401-249205263)x3	AHCTF1, GCSAML +54 more	Copy number gain	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1411294	NC_000001.10:g.(?_247599252)_(248059833_?)dup	OR2G3, OR2W3 +11 more	Duplication	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 980425	GRCh37/hg19 1q44(chr1:246853199-249181899)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GLikely pathogenic

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