ClinVar for Gene (Select 25893) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3328851	NM_015431.4(TRIM58):c.1442T>A (p.Val481Glu)	TRIM58 (V481E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3328849	NM_015431.4(TRIM58):c.1171G>A (p.Glu391Lys)	TRIM58 (E391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3328847	NM_015431.4(TRIM58):c.1417G>A (p.Asp473Asn)	TRIM58 (D473N)	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 3328845	NM_015431.4(TRIM58):c.297C>G (p.His99Gln)	TRIM58 (H99Q)	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 3182624	NM_015431.4(TRIM58):c.644T>G (p.Leu215Arg)	TRIM58 (L215R)	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 3182622	NM_015431.4(TRIM58):c.215A>G (p.Asn72Ser)	TRIM58 (N72S)	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 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 2614260	NM_015431.4(TRIM58):c.959G>A (p.Arg320Lys)	TRIM58 (R320K)	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 2592447	NM_015431.4(TRIM58):c.10G>A (p.Ala4Thr)	TRIM58 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2548163	NM_015431.4(TRIM58):c.1159C>A (p.Leu387Met)	TRIM58 (L387M)	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 2516812	NM_015431.4(TRIM58):c.277G>A (p.Ala93Thr)	TRIM58 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
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 2460461	NM_015431.4(TRIM58):c.541C>T (p.Arg181Cys)	TRIM58 (R181C)	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 2390594	NM_015431.4(TRIM58):c.25C>T (p.Arg9Trp)	TRIM58 (R9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2384544	NM_015431.4(TRIM58):c.821A>G (p.Lys274Arg)	TRIM58 (K274R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2324764	NM_015431.4(TRIM58):c.961G>C (p.Asp321His)	TRIM58 (D321H)	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 2295709	NM_015431.4(TRIM58):c.1130C>T (p.Pro377Leu)	TRIM58 (P377L)	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 2250194	NM_015431.4(TRIM58):c.425A>G (p.Lys142Arg)	TRIM58 (K142R)	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 2233897	NM_015431.4(TRIM58):c.617C>T (p.Ala206Val)	TRIM58 (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2226017	NM_015431.4(TRIM58):c.1207C>T (p.Leu403Phe)	TRIM58 (L403F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 688456	GRCh37/hg19 1q44(chr1:247576587-248688602)x4	GCSAML, NLRP3 +33 more	Copy number gain	not provided	GUncertain significance
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 685533	GRCh37/hg19 1q44(chr1:247032527-248071583)x3	AHCTF1, GCSAML +19 more	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 635895	Single allele	OR11L1, OR14A16 +22 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565257	GRCh37/hg19 1q44(chr1:247846257-249224684)x1	LYPD8, OR11L1 +38 more	Copy number loss	not provided	GUncertain significance
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 443568	GRCh37/hg19 1q44(chr1:246753355-249224684)x3	AHCTF1, CNST +55 more	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441889	GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4	ADSS2, AHCTF1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395294	GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3	ADSS2, CATSPERE +70 more	Copy number gain	See cases	GPathogenic
Select item 394442	GRCh37/hg19 1q44(chr1:247962269-248260734)x3	OR11L1, OR14A16 +9 more	Copy number gain	See cases	GBenign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253547	GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1	OR2L2, OR2L8 +66 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	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 154696	GRCh38/hg38 1q44(chr1:247404783-248472496)x3	GCSAML, GCSAML-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 154541	GRCh38/hg38 1q44(chr1:247716624-248114768)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	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 152683	GRCh38/hg38 1q44(chr1:247671583-248317448)x3	LOC115804254, LOC126806088 +25 more	Copy number gain	See cases	GBenign
Select item 151448	GRCh38/hg38 1q44(chr1:247870345-247871020)x3	TRIM58	Copy number gain	See cases	GBenign
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 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 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 149799	GRCh38/hg38 1q44(chr1:247613235-248521590)x3	LOC102724446, LOC115804254 +39 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 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 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

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