DSC2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar

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Items: 68

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1997791.	NM_024422.6(DSC2):c.2487del (p.Phe829fs) GRCh37: Chr18:28648881 GRCh38: Chr18:31068915	DSC2	F829fs	not provided	Likely pathogenic (Oct 6, 2020)	criteria provided, single submitter
Select item 17233802.	NM_024422.6(DSC2):c.2477G>A (p.Trp826Ter) GRCh37: Chr18:28648891 GRCh38: Chr18:31068925	DSC2	W683, W826	Familial isolated arrhythmogenic right ventricular dysplasia	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 17911763.	NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter) GRCh37: Chr18:28648937 GRCh38: Chr18:31068971	DSC2	G668, G811	Cardiovascular phenotype	Pathogenic (Jul 29, 2020)	criteria provided, single submitter
Select item 5362894.	NC_000018.10:g.(?_31070706)_(31070870_?)del GRCh37: Chr18:28650672-28650836 GRCh38: Chr18:31070706-31070870	DSC2		Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jun 19, 2022)	criteria provided, single submitter
Select item 4192205.	NM_024422.6(DSC2):c.2250+2T>C GRCh37: Chr18:28650690 GRCh38: Chr18:31070724	DSC2		not provided, Arrhythmogenic right ventricular dysplasia 11	Pathogenic/Likely pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14822206.	NM_024422.6(DSC2):c.2250+1G>C GRCh37: Chr18:28650691 GRCh38: Chr18:31070725	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 5681867.	NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) GRCh37: Chr18:28650742 GRCh38: Chr18:31070776	DSC2	Q734*	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 6629068.	NM_024422.6(DSC2):c.2186del (p.Pro729fs) GRCh37: Chr18:28650756 GRCh38: Chr18:31070790	DSC2	P729fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Dec 19, 2020)	criteria provided, single submitter
Select item 13387979.	NM_024422.6(DSC2):c.2152del (p.Ala718fs) GRCh37: Chr18:28650790 GRCh38: Chr18:31070824	DSC2	A718fs	Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 138103110.	NM_024422.6(DSC2):c.2136dup (p.Thr713fs) GRCh37: Chr18:28650805-28650806 GRCh38: Chr18:31070839-31070840	DSC2	T713fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jul 16, 2021)	criteria provided, single submitter
Select item 52369511.	NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) GRCh37: Chr18:28651580-28651584 GRCh38: Chr18:31071614-31071618	DSC2	F708fs	not provided, Arrhythmogenic right ventricular dysplasia 11	Pathogenic/Likely pathogenic (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145117812.	NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) GRCh37: Chr18:28651612 GRCh38: Chr18:31071646	DSC2	W695*	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Mar 17, 2021)	criteria provided, single submitter
Select item 138410813.	NM_024422.6(DSC2):c.1932dup (p.Ser645fs) GRCh37: Chr18:28651763-28651764 GRCh38: Chr18:31071797-31071798	DSC2	S645fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Apr 29, 2021)	criteria provided, single submitter
Select item 168772014.	NM_024422.6(DSC2):c.1920dup (p.Pro641fs) GRCh37: Chr18:28651775-28651776 GRCh38: Chr18:31071809-31071810	DSC2	P641fs	Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Aug 6, 2021)	no assertion criteria provided
Select item 97827715.	NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs) GRCh37: Chr18:28651780-28651783 GRCh38: Chr18:31071814-31071817	DSC2	Q638fs	Arrhythmogenic right ventricular dysplasia 1	Likely pathogenic (Jan 25, 2019)	criteria provided, single submitter
Select item 132277116.	NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) GRCh37: Chr18:28654679 GRCh38: Chr18:31074713	DSC2	Q620*	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145562717.	NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs) GRCh37: Chr18:28654695-28654696 GRCh38: Chr18:31074729-31074730	DSC2	S614fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jul 31, 2021)	criteria provided, single submitter
Select item 3163518.	NM_024422.6(DSC2):c.1841del (p.Ser614fs) GRCh37: Chr18:28654696 GRCh38: Chr18:31074730	DSC2	S614fs	Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair	Pathogenic (Jan 1, 2009)	no assertion criteria provided
Select item 177990519.	NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter) GRCh37: Chr18:28654760 GRCh38: Chr18:31074794	DSC2	E450, E593	Cardiovascular phenotype	Pathogenic (Mar 5, 2020)	criteria provided, single submitter
Select item 135954420.	NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer) GRCh37: Chr18:28654804-28654817 GRCh38: Chr18:31074838-31074851	DSC2		Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 23590921.	NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) GRCh37: Chr18:28659816 GRCh38: Chr18:31079850	DSC2	Q554*	not provided, Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41816722.	NM_024422.6(DSC2):c.1635_1636dup (p.Asn546fs) GRCh37: Chr18:28659839-28659840 GRCh38: Chr18:31079873-31079874	DSC2	N546fs	not provided	Likely pathogenic (Aug 31, 2016)	criteria provided, single submitter
Select item 169317823.	NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter) GRCh37: Chr18:28659899 GRCh38: Chr18:31079933	DSC2	S526*	Arrhythmogenic right ventricular cardiomyopathy	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 107596424.	NM_024422.6(DSC2):c.1571del (p.Thr524fs) GRCh37: Chr18:28659905 GRCh38: Chr18:31079939	DSC2	T524fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Feb 21, 2020)	criteria provided, single submitter
Select item 26434025.	NM_024422.6(DSC2):c.1521-1G>A GRCh37: Chr18:28659956 GRCh38: Chr18:31079990	DSC2		Cardiovascular phenotype	Likely pathogenic (Sep 10, 2015)	criteria provided, single submitter
Select item 202240326.	NM_024422.6(DSC2):c.1520+1G>A GRCh37: Chr18:28660061 GRCh38: Chr18:31080095	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Aug 7, 2022)	criteria provided, single submitter
Select item 95610927.	NM_024422.6(DSC2):c.1486del (p.Tyr496fs) GRCh37: Chr18:28660096 GRCh38: Chr18:31080130	DSC2	Y496fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Sep 12, 2019)	criteria provided, single submitter
Select item 1684828.	NM_024422.6(DSC2):c.1430del (p.Thr477fs) GRCh37: Chr18:28660152 GRCh38: Chr18:31080186	DSC2	T477fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Nov 1, 2006)	no assertion criteria provided
Select item 85294229.	NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs) GRCh37: Chr18:28660210-28660211 GRCh38: Chr18:31080244-31080245	DSC2	V458fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Apr 9, 2019)	criteria provided, single submitter
Select item 149902030.	NM_024422.6(DSC2):c.1264-1G>A GRCh37: Chr18:28660319 GRCh38: Chr18:31080353	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 213252031.	NM_024422.6(DSC2):c.1260del (p.Lys421fs) GRCh37: Chr18:28662207 GRCh38: Chr18:31082241	DSC2	K421fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 169486932.	NM_024422.6(DSC2):c.1239del (p.Asn413fs) GRCh37: Chr18:28662228 GRCh38: Chr18:31082262	DSC2	N413fs	not provided	Pathogenic (May 1, 2022)	criteria provided, single submitter
Select item 241331933.	NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter) GRCh37: Chr18:28662280 GRCh38: Chr18:31082314	DSC2	L253, L396	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 54604234.	NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter) GRCh37: Chr18:28662300 GRCh38: Chr18:31082334	DSC2	W389*	not provided	Likely pathogenic (May 23, 2018)	criteria provided, single submitter
Select item 140534935.	NM_024422.6(DSC2):c.1053_1059del (p.His351fs) GRCh37: Chr18:28662910-28662916 GRCh38: Chr18:31082944-31082950	DSC2	H351fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 142968336.	NM_024422.6(DSC2):c.1023dup (p.Ile342fs) GRCh37: Chr18:28662945-28662946 GRCh38: Chr18:31082979-31082980	DSC2	I342fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Oct 31, 2021)	criteria provided, single submitter
Select item 46838837.	NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) GRCh37: Chr18:28662973 GRCh38: Chr18:31083007	DSC2	Y332*	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Nov 7, 2017)	criteria provided, single submitter
Select item 202489138.	NM_024422.6(DSC2):c.991C>T (p.Gln331Ter) GRCh37: Chr18:28662978 GRCh38: Chr18:31083012	DSC2	Q188, Q331	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 196784139.	NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs) GRCh37: Chr18:28666552 GRCh38: Chr18:31086589	DSC2	Q310fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 41065040.	NM_024422.6(DSC2):c.882dup (p.Phe295fs) GRCh37: Chr18:28666598-28666599 GRCh38: Chr18:31086635-31086636	DSC2	F295fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Apr 26, 2017)	criteria provided, single submitter
Select item 130057541.	NM_024422.6(DSC2):c.880del (p.Leu294fs) GRCh37: Chr18:28666601 GRCh38: Chr18:31086638	DSC2	L294fs	Arrhythmogenic right ventricular dysplasia 11, not provided	Likely pathogenic (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4619942.	NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) GRCh37: Chr18:28666635 GRCh38: Chr18:31086672	DSC2	Y282*	not provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52312843.	NM_024422.6(DSC2):c.749T>C (p.Phe250Ser) GRCh37: Chr18:28667658 GRCh38: Chr18:31087695	DSC2	F250S	Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Mar 2, 2018)	criteria provided, single submitter
Select item 106870444.	NM_024422.6(DSC2):c.729del (p.Phe243fs) GRCh37: Chr18:28667678 GRCh38: Chr18:31087715	DSC2	F243fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jul 27, 2020)	criteria provided, single submitter
Select item 131991845.	NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) GRCh37: Chr18:28667722 GRCh38: Chr18:31087759	DSC2		Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jan 13, 2022)	criteria provided, single submitter
Select item 16250446.	NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) GRCh37: Chr18:28667744 GRCh38: Chr18:31087781	DSC2	Y221*	Arrhythmogenic right ventricular cardiomyopathy, not provided, Arrhythmogenic right ventricular dysplasia 11	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175019447.	NM_024422.6(DSC2):c.587_597del (p.Tyr196fs) GRCh37: Chr18:28669435-28669445 GRCh38: Chr18:31089472-31089482	DSC2	Y196fs	Cardiovascular phenotype	Pathogenic (Apr 14, 2022)	criteria provided, single submitter
Select item 174923548.	NM_024422.6(DSC2):c.571_572dup (p.Asp191fs) GRCh37: Chr18:28669459-28669460 GRCh38: Chr18:31089496-31089497	DSC2	D191fs	Cardiovascular phenotype	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 169318749.	NM_024422.6(DSC2):c.501_502dup (p.Thr168fs) GRCh37: Chr18:28669529-28669530 GRCh38: Chr18:31089566-31089567	DSC2	T168fs	Arrhythmogenic right ventricular cardiomyopathy	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 96144450.	NM_024422.6(DSC2):c.474+2T>A GRCh37: Chr18:28670989 GRCh38: Chr18:31091026	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 106744351.	NM_024422.6(DSC2):c.474+1G>T GRCh37: Chr18:28670990 GRCh38: Chr18:31091027	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 42273352.	NM_024422.6(DSC2):c.473del (p.Gln158fs) GRCh37: Chr18:28670992 GRCh38: Chr18:31091029	DSC2	Q158fs	not provided	Likely pathogenic (Nov 21, 2016)	criteria provided, single submitter
Select item 174149253.	NM_024422.6(DSC2):c.456_458delinsCG (p.Pro153fs) GRCh37: Chr18:28671007-28671009 GRCh38: Chr18:31091044-31091046	DSC2	P153fs	Cardiovascular phenotype	Pathogenic (Sep 24, 2021)	criteria provided, single submitter
Select item 167812554.	NM_024422.6(DSC2):c.355-1G>A GRCh37: Chr18:28671111 GRCh38: Chr18:31091148	DSC2		not provided, Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118231755.	NM_024422.6(DSC2):c.354+1G>T GRCh37: Chr18:28672063 GRCh38: Chr18:31092100	DSC2		not provided	Likely pathogenic (Sep 4, 2020)	criteria provided, single submitter
Select item 83748956.	NM_024422.6(DSC2):c.268G>T (p.Glu90Ter) GRCh37: Chr18:28672150 GRCh38: Chr18:31092187	DSC2	E90*	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Dec 27, 2019)	criteria provided, single submitter
Select item 53628857.	NC_000018.9:g.(?_28673502)_(28673626_?)dup GRCh37: Chr18:28673502-28673626 GRCh38: Chr18:31093539-31093663	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jan 4, 2018)	criteria provided, single submitter
Select item 151559858.	NM_024422.6(DSC2):c.154+2T>C GRCh37: Chr18:28673520 GRCh38: Chr18:31093557	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jul 21, 2021)	criteria provided, single submitter
Select item 4616859.	NM_024422.6(DSC2):c.154+1G>A GRCh37: Chr18:28673521 GRCh38: Chr18:31093558	DSC2		Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic (May 27, 2009)	no assertion criteria provided
Select item 81718560.	NM_024422.6(DSC2):c.123del (p.Lys42fs) GRCh37: Chr18:28673553 GRCh38: Chr18:31093590	DSC2	K42fs	Arrhythmogenic right ventricular dysplasia 11, not provided	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107476961.	NM_024422.6(DSC2):c.110_114del (p.Leu37fs) GRCh37: Chr18:28673562-28673566 GRCh38: Chr18:31093599-31093603	DSC2	L37fs	Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jun 25, 2022)	criteria provided, single submitter
Select item 42422862.	NM_024422.6(DSC2):c.101dup (p.Asn34fs) GRCh37: Chr18:28673574-28673575 GRCh38: Chr18:31093611-31093612	DSC2	N34fs	not provided	Likely pathogenic (Mar 13, 2017)	criteria provided, single submitter
Select item 4620463.	NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) GRCh37: Chr18:28673580 GRCh38: Chr18:31093617	DSC2		not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11	Pathogenic/Likely pathogenic (Jan 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50402464.	NM_024422.6(DSC2):c.77del (p.Ile26fs) GRCh37: Chr18:28673599 GRCh38: Chr18:31093636	DSC2	I26fs	not provided, Arrhythmogenic right ventricular dysplasia 11	Pathogenic/Likely pathogenic (May 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 242682165.	NC_000018.9:g.(?_28673522)_(28673606_?)del GRCh37: Chr18:28673522-28673606	DSC2		Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 242682066.	NC_000018.9:g.(?_28681846)_(28681934_?)del GRCh37: Chr18:28681846-28681934	DSC2		Arrhythmogenic right ventricular dysplasia 11	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 83142167.	NC_000018.10:g.(?_31068005)_(31070860_?)del GRCh37: Chr18:28647971-28650826	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic (Jul 29, 2019)	criteria provided, single submitter
Select item 53629068.	NC_000018.9:g.(?_28654629)_(28673626_?)dup GRCh37: Chr18:28654629-28673626	DSC2		Arrhythmogenic right ventricular dysplasia 11	Pathogenic (Jun 19, 2022)	criteria provided, single submitter

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Items: 68