29119[geneid] - ClinVar - NCBI

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	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 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 149056	GRCh38/hg38 10q21.3(chr10:64673789-66599736)x1	CTNNA3, LINC01515 +30 more	Copy number loss	See cases	GUncertain significance
Select item 1257910	NM_013266.4(CTNNA3):c.*243G>A	CTNNA3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1511042	NM_013266.4(CTNNA3):c.2688A>G (p.Ter896Trp)	CTNNA3	Single nucleotide variant (stop lost)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1037873	NM_013266.4(CTNNA3):c.2686T>C (p.Ter896Arg)	CTNNA3	Single nucleotide variant (stop lost)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1405944	NM_013266.4(CTNNA3):c.2684A>G (p.Tyr895Cys)	CTNNA3 (Y895C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1794615	NM_013266.4(CTNNA3):c.2677C>A (p.Gln893Lys)	CTNNA3 (Q893K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 798911	NM_013266.4(CTNNA3):c.2670A>G (p.Arg890=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 1794524	NM_013266.4(CTNNA3):c.2669G>A (p.Arg890Lys)	CTNNA3 (R890K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3003783	NM_013266.4(CTNNA3):c.2665T>C (p.Phe889Leu)	CTNNA3 (F889L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 3270128	NM_013266.4(CTNNA3):c.2655C>A (p.Val885=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1976570	NM_013266.4(CTNNA3):c.2654T>C (p.Val885Ala)	CTNNA3 (V885A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1965860	NM_013266.4(CTNNA3):c.2650C>A (p.Gln884Lys)	CTNNA3 (Q884K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2450200	NM_013266.4(CTNNA3):c.2648T>G (p.Leu883Trp)	CTNNA3 (L883W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1091332	NM_013266.4(CTNNA3):c.2647T>C (p.Leu883=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 3001459	NM_013266.4(CTNNA3):c.2642A>G (p.His881Arg)	CTNNA3 (H881R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 409025	NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs)	CTNNA3 (I880fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1794105	NM_013266.4(CTNNA3):c.2635A>C (p.Lys879Gln)	CTNNA3 (K879Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 541660	NM_013266.4(CTNNA3):c.2630A>C (p.Lys877Thr)	CTNNA3 (K877T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2624632	NM_013266.4(CTNNA3):c.2629A>C (p.Lys877Gln)	CTNNA3 (K877Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758787	NM_013266.4(CTNNA3):c.2628A>G (p.Ala876=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GLikely benign
Select item 2564951	NM_013266.4(CTNNA3):c.2623T>C (p.Ser875Pro)	CTNNA3 (S875P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201885	NM_013266.4(CTNNA3):c.2618G>A (p.Arg873Gln)	CTNNA3 (R873Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1607921	NM_013266.4(CTNNA3):c.2617C>A (p.Arg873=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 845703	NM_013266.4(CTNNA3):c.2617C>T (p.Arg873Ter)	CTNNA3 (R873*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1438251	NM_013266.4(CTNNA3):c.2616A>C (p.Arg872Ser)	CTNNA3 (R872S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1153889	NM_013266.4(CTNNA3):c.2614A>C (p.Arg872=)	CTNNA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 696222	NM_013266.4(CTNNA3):c.2601G>A (p.Thr867=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1793673	NM_013266.4(CTNNA3):c.2600C>T (p.Thr867Met)	CTNNA3 (T867M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3270118	NM_013266.4(CTNNA3):c.2599A>T (p.Thr867Ser)	CTNNA3 (T867S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1014294	NM_013266.4(CTNNA3):c.2589G>T (p.Lys863Asn)	CTNNA3 (K863N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 180313	NM_013266.4(CTNNA3):c.2588del (p.Lys863fs)	CTNNA3 (K863fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2091625	NM_013266.4(CTNNA3):c.2585A>G (p.Glu862Gly)	CTNNA3 (E862G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2151084	NM_013266.4(CTNNA3):c.2584G>A (p.Glu862Lys)	CTNNA3 (E862K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1461023	NM_013266.4(CTNNA3):c.2582G>C (p.Arg861Thr)	CTNNA3 (R861T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1793379	NM_013266.4(CTNNA3):c.2581A>G (p.Arg861Gly)	CTNNA3 (R861G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 842502	NM_013266.4(CTNNA3):c.2575A>T (p.Ile859Phe)	CTNNA3 (I859F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 155780	NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser)	CTNNA3 (L858S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GConflicting classifications of pathogenicity
Select item 1102433	NM_013266.4(CTNNA3):c.2572T>C (p.Leu858=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 155779	NM_013266.4(CTNNA3):c.2571del (p.Pro857_Leu858insTer)	CTNNA3	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 947338	NM_013266.4(CTNNA3):c.2568dup (p.Pro857fs)	CTNNA3 (P857fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1700649	NM_013266.4(CTNNA3):c.2568del (p.Lys856fs)	CTNNA3 (K856fs)	Deletion (frameshift variant)	Malignant tumor of urinary bladder	GLikely pathogenic
Select item 2740322	NM_013266.4(CTNNA3):c.2567A>C (p.Lys856Thr)	CTNNA3 (K856T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2848846	NM_013266.4(CTNNA3):c.2564A>G (p.Lys855Arg)	CTNNA3 (K855R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2185152	NM_013266.4(CTNNA3):c.2563A>C (p.Lys855Gln)	CTNNA3 (K855Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1379911	NM_013266.4(CTNNA3):c.2563A>G (p.Lys855Glu)	CTNNA3 (K855E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1108537	NM_013266.4(CTNNA3):c.2562A>G (p.Ala854=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 1793025	NM_013266.4(CTNNA3):c.2557C>A (p.Pro853Thr)	CTNNA3 (P853T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2702902	NM_013266.4(CTNNA3):c.2554G>A (p.Ala852Thr)	CTNNA3 (A852T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1333967	NM_013266.4(CTNNA3):c.2554G>T (p.Ala852Ser)	CTNNA3 (A852S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 240869	NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GBenign/Likely benign
Select item 2626581	NM_013266.4(CTNNA3):c.2551A>C (p.Lys851Gln)	CTNNA3 (K851Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1026514	NM_013266.4(CTNNA3):c.2550G>A (p.Met850Ile)	CTNNA3 (M850I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GUncertain significance
Select item 845425	NM_013266.4(CTNNA3):c.2540T>C (p.Met847Thr)	CTNNA3 (M847T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GUncertain significance
Select item 1560507	NM_013266.4(CTNNA3):c.2532A>G (p.Pro844=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 2867476	NM_013266.4(CTNNA3):c.2530C>A (p.Pro844Thr)	CTNNA3 (P844T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 957106	NM_013266.4(CTNNA3):c.2530C>G (p.Pro844Ala)	CTNNA3 (P844A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 409022	NM_013266.4(CTNNA3):c.2528A>G (p.His843Arg)	CTNNA3 (H843R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 861261	NM_013266.4(CTNNA3):c.2525G>A (p.Arg842Gln)	CTNNA3 (R842Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 541664	NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp)	CTNNA3 (R842W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13 +2 more	GConflicting classifications of pathogenicity
Select item 1127159	NM_013266.4(CTNNA3):c.2523C>T (p.Pro841=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13 +1 more	GLikely benign
Select item 647025	NM_013266.4(CTNNA3):c.2501G>T (p.Arg834Leu)	CTNNA3 (R834L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 409020	NM_013266.4(CTNNA3):c.2501G>A (p.Arg834Gln)	CTNNA3 (R834Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1792250	NM_013266.4(CTNNA3):c.2500C>G (p.Arg834Gly)	CTNNA3 (R834G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 180312	NM_013266.4(CTNNA3):c.2500C>T (p.Arg834Ter)	CTNNA3 (R834*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2624631	NM_013266.4(CTNNA3):c.2498T>G (p.Ile833Ser)	CTNNA3 (I833S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1792140	NM_013266.4(CTNNA3):c.2497A>G (p.Ile833Val)	CTNNA3 (I833V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 941543	NM_013266.4(CTNNA3):c.2494A>T (p.Ile832Phe)	CTNNA3 (I832F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1792108	NM_013266.4(CTNNA3):c.2493G>T (p.Lys831Asn)	CTNNA3 (K831N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 860160	NM_013266.4(CTNNA3):c.2482G>A (p.Ala828Thr)	CTNNA3 (A828T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2733027	NM_013266.4(CTNNA3):c.2478C>T (p.Tyr826=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2163663	NM_013266.4(CTNNA3):c.2472G>A (p.Met824Ile)	CTNNA3 (M824I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1095645	NM_013266.4(CTNNA3):c.2460A>G (p.Gln820=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 3226239	NM_013266.4(CTNNA3):c.2459A>G (p.Gln820Arg)	CTNNA3 (Q820R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1362638	NM_013266.4(CTNNA3):c.2455G>A (p.Val819Met)	CTNNA3 (V819M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 3226238	NM_013266.4(CTNNA3):c.2454A>G (p.Val818=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1791511	NM_013266.4(CTNNA3):c.2452G>A (p.Val818Ile)	CTNNA3 (V818I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1791278	NM_013266.4(CTNNA3):c.2439T>C (p.Asn813=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564948	NM_013266.4(CTNNA3):c.2438A>T (p.Asn813Ile)	CTNNA3 (N813I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270120	NM_013266.4(CTNNA3):c.2431G>T (p.Ala811Ser)	CTNNA3 (A811S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 222540	NM_013266.4(CTNNA3):c.2430del (p.Ala811fs)	CTNNA3 (A811fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3226237	NM_013266.4(CTNNA3):c.2428G>A (p.Ala810Thr)	CTNNA3 (A810T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 860656	NM_013266.4(CTNNA3):c.2427A>G (p.Gln809=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 1791028	NM_013266.4(CTNNA3):c.2421G>A (p.Leu807=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564946	NM_013266.4(CTNNA3):c.2419C>T (p.Leu807=)	CTNNA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2040420	NM_013266.4(CTNNA3):c.2415A>G (p.Thr805=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 1896249	NM_013266.4(CTNNA3):c.2410G>A (p.Val804Ile)	CTNNA3 (V804I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2724808	NM_013266.4(CTNNA3):c.2409T>C (p.Ser803=)	CTNNA3	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 3337975	NM_013266.4(CTNNA3):c.2407A>G (p.Ser803Gly)	CTNNA3 (S803G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1153884	NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr)	CTNNA3 (D802Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GConflicting classifications of pathogenicity
Select item 1632166	NM_013266.4(CTNNA3):c.2401-11T>G	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13	GBenign
Select item 1284711	NM_013266.4(CTNNA3):c.2401-23dup	CTNNA3	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 13	GBenign
Select item 2043412	NM_013266.4(CTNNA3):c.2401-18T>C	CTNNA3	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 13	GLikely benign
Select item 1318271	NM_013266.4(CTNNA3):c.2401-86C>T	CTNNA3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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