17362[HGNC] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 155221	GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3	ADO, ARID5B +78 more	Copy number gain	See cases	GUncertain significance
Select item 59398	GRCh38/hg38 10q21.2(chr10:61723883-62009346)x1	ARID5B, CABCOCO1 +11 more	Copy number loss	See cases	GUncertain significance
Select item 1268779	NC_000010.11:g.61901581T>C	ARID5B	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 3042690	NM_032199.3(ARID5B):c.22-6dup	ARID5B	Duplication (intron variant)	ARID5B-related disorder	GLikely benign
Select item 2273179	NM_032199.3(ARID5B):c.35C>A (p.Pro12Gln)	ARID5B (P12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635514	NM_032199.3(ARID5B):c.137G>A (p.Cys46Tyr)	ARID5B (C46Y)	Single nucleotide variant (missense variant)	ARID5B-related disorder	GUncertain significance
Select item 2252863	NM_032199.3(ARID5B):c.140C>A (p.Thr47Lys)	ARID5B (T47K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315159	NM_032199.3(ARID5B):c.337G>C (p.Val113Leu)	ARID5B, LOC130003875 (V113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129508	NM_032199.3(ARID5B):c.342T>G (p.His114Gln)	ARID5B, LOC130003875 (H114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048787	NM_032199.3(ARID5B):c.375C>T (p.His125=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 2271402	NM_032199.3(ARID5B):c.434A>G (p.Lys145Arg)	ARID5B (K145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492027	NM_032199.3(ARID5B):c.460G>A (p.Gly154Arg)	ARID5B (G154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597762	NM_032199.3(ARID5B):c.481C>A (p.Leu161Ile)	ARID5B (L161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129510	NM_032199.3(ARID5B):c.487G>C (p.Glu163Gln)	ARID5B (E163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040475	NM_032199.3(ARID5B):c.628C>T (p.Leu210=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 2250995	NM_032199.3(ARID5B):c.658C>T (p.Pro220Ser)	ARID5B (P220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129511	NM_032199.3(ARID5B):c.680A>C (p.Asp227Ala)	ARID5B (D227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055153	NM_032199.3(ARID5B):c.771A>G (p.Pro257=)	ARID5B, LOC126860943	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 2462014	NM_032199.3(ARID5B):c.821A>G (p.Asn274Ser)	ARID5B, LOC126860943 (N274S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524873	NM_032199.3(ARID5B):c.996G>C (p.Met332Ile)	ARID5B (M332I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372142	NM_032199.3(ARID5B):c.1005G>C (p.Arg335Ser)	ARID5B (R335S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706640	NM_032199.3(ARID5B):c.1302del (p.Asn434fs)	ARID5B (N191fs +1 more)	Deletion (frameshift variant)	Blue sclerae +7 more	GUncertain significance
Select item 2511228	NM_032199.3(ARID5B):c.1330A>G (p.Ile444Val)	ARID5B (I201V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397320	NM_032199.3(ARID5B):c.1343T>C (p.Ile448Thr)	ARID5B (I205T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129499	NM_032199.3(ARID5B):c.1352G>A (p.Ser451Asn)	ARID5B (S208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054545	NM_032199.3(ARID5B):c.1497G>A (p.Gly499=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 3129500	NM_032199.3(ARID5B):c.1563C>G (p.Asp521Glu)	ARID5B (D521E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042667	NM_032199.3(ARID5B):c.1599G>A (p.Ala533=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 2557814	NM_032199.3(ARID5B):c.1652A>T (p.Lys551Ile)	ARID5B (K308I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487322	NM_032199.3(ARID5B):c.1654G>C (p.Asp552His)	ARID5B (D309H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312872	NM_032199.3(ARID5B):c.1706C>T (p.Ala569Val)	ARID5B (A326V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129501	NM_032199.3(ARID5B):c.1748C>T (p.Thr583Ile)	ARID5B (T583I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258438	NM_032199.3(ARID5B):c.1764T>A (p.Ser588Arg)	ARID5B (S588R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391794	NM_032199.3(ARID5B):c.1811C>T (p.Pro604Leu)	ARID5B (P361L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037676	NM_032199.3(ARID5B):c.1812G>A (p.Pro604=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GBenign
Select item 3040724	NM_032199.3(ARID5B):c.1852G>A (p.Ala618Thr)	ARID5B (A375T +1 more)	Single nucleotide variant (missense variant)	ARID5B-related disorder	GBenign
Select item 2290973	NM_032199.3(ARID5B):c.1856T>C (p.Met619Thr)	ARID5B (M376T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522225	NM_032199.3(ARID5B):c.1886A>C (p.Lys629Thr)	ARID5B (K629T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038643	NM_032199.3(ARID5B):c.1908C>T (p.Asp636=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 2375155	NM_032199.3(ARID5B):c.1909G>T (p.Asp637Tyr)	ARID5B (D394Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320659	NM_032199.3(ARID5B):c.1933A>T (p.Thr645Ser)	ARID5B (T645S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243311	NM_032199.3(ARID5B):c.1991G>A (p.Gly664Glu)	ARID5B (G664E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321975	NM_032199.3(ARID5B):c.2107A>G (p.Ser703Gly)	ARID5B (S703G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345111	NM_032199.3(ARID5B):c.2143C>G (p.Pro715Ala)	ARID5B (P715A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398832	NM_032199.3(ARID5B):c.2178T>A (p.Asp726Glu)	ARID5B (D483E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359329	NM_032199.3(ARID5B):c.2231T>C (p.Met744Thr)	ARID5B (M501T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360327	NM_032199.3(ARID5B):c.2234C>T (p.Ala745Val)	ARID5B (A745V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035588	NM_032199.3(ARID5B):c.2235G>A (p.Ala745=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 2525686	NM_032199.3(ARID5B):c.2263G>A (p.Val755Ile)	ARID5B (V755I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129503	NM_032199.3(ARID5B):c.2354G>A (p.Arg785His)	ARID5B (R542H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303019	NM_032199.3(ARID5B):c.2362T>A (p.Phe788Ile)	ARID5B (F545I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044584	NM_032199.3(ARID5B):c.2402T>C (p.Val801Ala)	ARID5B (V558A +1 more)	Single nucleotide variant (missense variant)	ARID5B-related disorder	GBenign
Select item 3031682	NM_032199.3(ARID5B):c.2448A>G (p.Lys816=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 2555308	NM_032199.3(ARID5B):c.2461C>G (p.His821Asp)	ARID5B (H578D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222953	NM_032199.3(ARID5B):c.2471T>C (p.Met824Thr)	ARID5B (M581T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036405	NM_032199.3(ARID5B):c.2562C>A (p.Ser854=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 3129504	NM_032199.3(ARID5B):c.2617C>T (p.His873Tyr)	ARID5B (H873Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129505	NM_032199.3(ARID5B):c.2635C>T (p.Leu879Phe)	ARID5B (L879F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055195	NM_032199.3(ARID5B):c.2655G>A (p.Thr885=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 779933	NM_032199.3(ARID5B):c.2736G>A (p.Lys912=)	ARID5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783575	NM_032199.3(ARID5B):c.2913G>A (p.Ser971=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder +1 more	GBenign
Select item 2473753	NM_032199.3(ARID5B):c.3020G>C (p.Gly1007Ala)	ARID5B (G764A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031676	NM_032199.3(ARID5B):c.3084C>T (p.Ala1028=)	ARID5B	Single nucleotide variant (synonymous variant)	ARID5B-related disorder	GLikely benign
Select item 3129506	NM_032199.3(ARID5B):c.3089C>T (p.Ala1030Val)	ARID5B (A787V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478117	NM_032199.3(ARID5B):c.3170C>T (p.Ala1057Val)	ARID5B (A1057V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129507	NM_032199.3(ARID5B):c.3203G>T (p.Gly1068Val)	ARID5B (G1068V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484297	NM_032199.3(ARID5B):c.3327G>C (p.Gln1109His)	ARID5B (Q866H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528225	NM_032199.3(ARID5B):c.3378G>A (p.Met1126Ile)	ARID5B (M883I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703130	NM_032199.3(ARID5B):c.3381_3382del (p.Gly1129fs)	ARID5B (G1129fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3129509	NM_032199.3(ARID5B):c.3508C>A (p.Pro1170Thr)	ARID5B (P927T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808430	GRCh37/hg19 10q21.1-21.2(chr10:60870153-63790451)x1	ANK3, ARID5B +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 815353	GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1	CDK1, CABCOCO1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815348	GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1	ANK3, PCDH15 +17 more	Copy number loss	not provided	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 563763	GRCh37/hg19 10q21.2(chr10:62790493-63818724)x3	TMEM26, CABCOCO1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 93