ClinVar for MedGen (Select 409749) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24140161.	NM_002230.4(JUP):c.2152A>G (p.Met718Val) GRCh37: Chr17:39912082 GRCh38: Chr17:41755830	JUP	M718V	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 24139862.	NM_002230.4(JUP):c.1951C>T (p.Arg651Cys) GRCh37: Chr17:39913762 GRCh38: Chr17:41757510	JUP	R651C	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 22001803.	NM_002230.4(JUP):c.136G>T (p.Asp46Tyr) GRCh37: Chr17:39927971 GRCh38: Chr17:41771719	JUP	D46Y	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 21981404.	NM_002230.4(JUP):c.1055-4C>A GRCh37: Chr17:39921072 GRCh38: Chr17:41764820	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 21972865.	NM_002230.4(JUP):c.1605C>T (p.His535=) GRCh37: Chr17:39915015 GRCh38: Chr17:41758763	JUP		Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21959746.	NM_002230.4(JUP):c.1876dup (p.Ala626fs) GRCh37: Chr17:39913933-39913934 GRCh38: Chr17:41757681-41757682	JUP	A626fs	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 21918257.	NM_002230.4(JUP):c.2190C>T (p.Ser730=) GRCh37: Chr17:39912044 GRCh38: Chr17:41755792	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 21815228.	NM_002230.4(JUP):c.1455C>G (p.Ile485Met) GRCh37: Chr17:39919277 GRCh38: Chr17:41763025	JUP	I485M	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 21804709.	NM_002230.4(JUP):c.2219C>T (p.Ala740Val) GRCh37: Chr17:39912015 GRCh38: Chr17:41755763	JUP	A740V	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 217888410.	NM_002230.4(JUP):c.1393C>T (p.Arg465Cys) GRCh37: Chr17:39919339 GRCh38: Chr17:41763087	JUP	R465C	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 217794311.	NM_002230.4(JUP):c.1642C>G (p.Gln548Glu) GRCh37: Chr17:39914978 GRCh38: Chr17:41758726	JUP	Q548E	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 217639712.	NM_002230.4(JUP):c.35A>G (p.Lys12Arg) GRCh37: Chr17:39928072 GRCh38: Chr17:41771820	JUP	K12R	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 217512713.	NM_002230.4(JUP):c.1158+20C>G GRCh37: Chr17:39920945 GRCh38: Chr17:41764693	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 217412014.	NM_002230.4(JUP):c.631A>C (p.Asn211His) GRCh37: Chr17:39925297 GRCh38: Chr17:41769045	JUP	N211H	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 217403515.	NM_002230.4(JUP):c.886G>T (p.Ala296Ser) GRCh37: Chr17:39923654 GRCh38: Chr17:41767402	JUP	A296S	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 217326216.	NM_002230.4(JUP):c.174C>T (p.Thr58=) GRCh37: Chr17:39927933 GRCh38: Chr17:41771681	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 217225217.	NM_002230.4(JUP):c.1469A>G (p.Asn490Ser) GRCh37: Chr17:39919263 GRCh38: Chr17:41763011	JUP	N490S	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 217110518.	NM_002230.4(JUP):c.122G>A (p.Gly41Asp) GRCh37: Chr17:39927985 GRCh38: Chr17:41771733	JUP	G41D	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 216788119.	NM_002230.4(JUP):c.1830G>A (p.Glu610=) GRCh37: Chr17:39913980 GRCh38: Chr17:41757728	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 216752020.	NM_002230.4(JUP):c.1815C>G (p.Ala605=) GRCh37: Chr17:39913995 GRCh38: Chr17:41757743	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 216587521.	NM_002230.4(JUP):c.2129C>A (p.Pro710His) GRCh37: Chr17:39912105 GRCh38: Chr17:41755853	JUP	P710H	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216535322.	NM_002230.4(JUP):c.196C>T (p.Pro66Ser) GRCh37: Chr17:39927911 GRCh38: Chr17:41771659	JUP	P66S	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 215879823.	NM_002230.4(JUP):c.1348G>A (p.Asp450Asn) GRCh37: Chr17:39919384 GRCh38: Chr17:41763132	JUP	D450N	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 215840724.	NM_002230.4(JUP):c.1774-15G>A GRCh37: Chr17:39914051 GRCh38: Chr17:41757799	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 215769925.	NM_002230.4(JUP):c.909+6C>A GRCh37: Chr17:39923625 GRCh38: Chr17:41767373	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 215701126.	NM_002230.4(JUP):c.372G>A (p.Lys124=) GRCh37: Chr17:39925766 GRCh38: Chr17:41769514	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 215674527.	NM_002230.4(JUP):c.9G>C (p.Val3=) GRCh37: Chr17:39928098 GRCh38: Chr17:41771846	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 215575128.	NM_002230.4(JUP):c.1934C>T (p.Ala645Val) GRCh37: Chr17:39913779 GRCh38: Chr17:41757527	JUP	A645V	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 215370429.	NM_002230.4(JUP):c.1713C>T (p.Ala571=) GRCh37: Chr17:39914711 GRCh38: Chr17:41758459	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 215294030.	NM_002230.4(JUP):c.1774-4C>T GRCh37: Chr17:39914040 GRCh38: Chr17:41757788	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 214962131.	NM_002230.4(JUP):c.1497+16G>A GRCh37: Chr17:39919219 GRCh38: Chr17:41762967	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 214757632.	NM_002230.4(JUP):c.1910G>T (p.Arg637Leu) GRCh37: Chr17:39913900 GRCh38: Chr17:41757648	JUP	R637L	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 214705133.	NM_002230.4(JUP):c.839A>G (p.Asn280Ser) GRCh37: Chr17:39923701 GRCh38: Chr17:41767449	JUP	N280S	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 214575334.	NM_002230.4(JUP):c.910-16C>T GRCh37: Chr17:39921335 GRCh38: Chr17:41765083	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 214459435.	NM_002230.4(JUP):c.563C>G (p.Ala188Gly) GRCh37: Chr17:39925365 GRCh38: Chr17:41769113	JUP	A188G	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 214406936.	NM_002230.4(JUP):c.1658G>T (p.Gly553Val) GRCh37: Chr17:39914766 GRCh38: Chr17:41758514	JUP	G553V	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 214367937.	NM_002230.4(JUP):c.1717G>T (p.Asp573Tyr) GRCh37: Chr17:39914707 GRCh38: Chr17:41758455	JUP	D573Y	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 213667138.	NM_002230.4(JUP):c.1890C>T (p.Leu630=) GRCh37: Chr17:39913920 GRCh38: Chr17:41757668	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 213435339.	NM_002230.4(JUP):c.1989C>G (p.Arg663=) GRCh37: Chr17:39913724 GRCh38: Chr17:41757472	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213256640.	NM_002230.4(JUP):c.1107G>A (p.Val369=) GRCh37: Chr17:39921016 GRCh38: Chr17:41764764	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 213226541.	NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe) GRCh37: Chr17:39912120 GRCh38: Chr17:41755868	JUP	Y705F	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 212895442.	NM_002230.4(JUP):c.501C>T (p.Asn167=) GRCh37: Chr17:39925427 GRCh38: Chr17:41769175	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212630543.	NM_002230.4(JUP):c.751C>T (p.His251Tyr) GRCh37: Chr17:39923789 GRCh38: Chr17:41767537	JUP	H251Y	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 212268744.	NM_002230.4(JUP):c.2035G>T (p.Ala679Ser) GRCh37: Chr17:39913678 GRCh38: Chr17:41757426	JUP	A679S	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 211465145.	NM_002230.4(JUP):c.1944C>G (p.Val648=) GRCh37: Chr17:39913769 GRCh38: Chr17:41757517	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 210756146.	NM_002230.4(JUP):c.2145G>A (p.Glu715=) GRCh37: Chr17:39912089 GRCh38: Chr17:41755837	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 210377747.	NM_002230.4(JUP):c.269G>T (p.Cys90Phe) GRCh37: Chr17:39925869 GRCh38: Chr17:41769617	JUP	C90F	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 210347548.	NM_002230.4(JUP):c.76A>C (p.Ile26Leu) GRCh37: Chr17:39928031 GRCh38: Chr17:41771779	JUP	I26L	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 210249549.	NM_002230.4(JUP):c.2087-8G>A GRCh37: Chr17:39912155 GRCh38: Chr17:41755903	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 210080750.	NM_002230.4(JUP):c.142G>C (p.Ala48Pro) GRCh37: Chr17:39927965 GRCh38: Chr17:41771713	JUP	A48P	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 210065051.	NM_002230.4(JUP):c.1653G>T (p.Thr551=) GRCh37: Chr17:39914967 GRCh38: Chr17:41758715	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 210009152.	NM_002230.4(JUP):c.805G>C (p.Gly269Arg) GRCh37: Chr17:39923735 GRCh38: Chr17:41767483	JUP	G269R	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209395953.	NM_002230.4(JUP):c.401A>T (p.Gln134Leu) GRCh37: Chr17:39925737 GRCh38: Chr17:41769485	JUP	Q134L	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 208785254.	NM_002230.4(JUP):c.2046+10C>T GRCh37: Chr17:39913657 GRCh38: Chr17:41757405	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208424755.	NM_002230.4(JUP):c.1322C>A (p.Ala441Asp) GRCh37: Chr17:39919410 GRCh38: Chr17:41763158	JUP	A441D	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208416656.	NM_002230.4(JUP):c.248A>G (p.Lys83Arg) GRCh37: Chr17:39925890 GRCh38: Chr17:41769638	JUP	K83R	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 208339157.	NM_002230.4(JUP):c.708-13C>A GRCh37: Chr17:39923845 GRCh38: Chr17:41767593	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 207843758.	NM_002230.4(JUP):c.687del (p.Ala230fs) GRCh37: Chr17:39925241 GRCh38: Chr17:41768989	JUP	A230fs	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 207531159.	NM_002230.4(JUP):c.1749C>T (p.Leu583=) GRCh37: Chr17:39914675 GRCh38: Chr17:41758423	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 207255060.	NM_002230.4(JUP):c.1312C>G (p.Leu438Val) GRCh37: Chr17:39919420 GRCh38: Chr17:41763168	JUP	L438V	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 206208161.	NM_002230.4(JUP):c.1924+16G>T GRCh37: Chr17:39913870 GRCh38: Chr17:41757618	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 205951662.	NM_002230.4(JUP):c.1914C>G (p.Asn638Lys) GRCh37: Chr17:39913896 GRCh38: Chr17:41757644	JUP	N638K	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 205666263.	NM_002230.4(JUP):c.1563_1565dup (p.Ala522_Val523insAla) GRCh37: Chr17:39915054-39915055 GRCh38: Chr17:41758802-41758803	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205565764.	NM_002230.4(JUP):c.1498-16C>T GRCh37: Chr17:39915138 GRCh38: Chr17:41758886	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 205469565.	NM_002230.4(JUP):c.238G>A (p.Ala80Thr) GRCh37: Chr17:39925900 GRCh38: Chr17:41769648	JUP	A80T	Inborn genetic diseases, Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204765366.	NM_002230.4(JUP):c.1773+19G>A GRCh37: Chr17:39914632 GRCh38: Chr17:41758380	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 204641867.	NM_002230.4(JUP):c.1785G>C (p.Ser595=) GRCh37: Chr17:39914025 GRCh38: Chr17:41757773	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 204485068.	NM_002230.4(JUP):c.910-9T>A GRCh37: Chr17:39921328 GRCh38: Chr17:41765076	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 204462969.	NM_002230.4(JUP):c.910-19A>T GRCh37: Chr17:39921338 GRCh38: Chr17:41765086	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 204352470.	NM_002230.4(JUP):c.197C>T (p.Pro66Leu) GRCh37: Chr17:39927910 GRCh38: Chr17:41771658	JUP	P66L	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 203568671.	NM_002230.4(JUP):c.1779G>A (p.Leu593=) GRCh37: Chr17:39914031 GRCh38: Chr17:41757779	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 203421072.	NM_002230.4(JUP):c.1653+5G>C GRCh37: Chr17:39914962 GRCh38: Chr17:41758710	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 202451273.	NM_002230.4(JUP):c.1498-15C>A GRCh37: Chr17:39915137 GRCh38: Chr17:41758885	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 202393874.	NM_002230.4(JUP):c.708-8C>T GRCh37: Chr17:39923840 GRCh38: Chr17:41767588	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 201141875.	NM_002230.4(JUP):c.875T>C (p.Leu292Pro) GRCh37: Chr17:39923665 GRCh38: Chr17:41767413	JUP	L292P	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 200514976.	NM_002230.4(JUP):c.2045C>T (p.Ala682Val) GRCh37: Chr17:39913668 GRCh38: Chr17:41757416	JUP	A682V	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 200094877.	NM_002230.4(JUP):c.1055-16C>T GRCh37: Chr17:39921084 GRCh38: Chr17:41764832	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 199975978.	NM_002230.4(JUP):c.958C>A (p.Arg320Ser) GRCh37: Chr17:39921271 GRCh38: Chr17:41765019	JUP	R320S	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 199610379.	NM_002230.4(JUP):c.1671G>A (p.Glu557=) GRCh37: Chr17:39914753 GRCh38: Chr17:41758501	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 199597480.	NM_002230.4(JUP):c.1653+9G>A GRCh37: Chr17:39914958 GRCh38: Chr17:41758706	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 198107981.	NM_002230.4(JUP):c.381T>C (p.Ile127=) GRCh37: Chr17:39925757 GRCh38: Chr17:41769505	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 197209482.	NM_002230.4(JUP):c.537G>A (p.Leu179=) GRCh37: Chr17:39925391 GRCh38: Chr17:41769139	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 196013183.	NM_002230.4(JUP):c.599A>C (p.Asp200Ala) GRCh37: Chr17:39925329 GRCh38: Chr17:41769077	JUP	D200A	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 195445884.	NM_002230.4(JUP):c.2019C>T (p.Phe673=) GRCh37: Chr17:39913694 GRCh38: Chr17:41757442	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 195384785.	NM_002230.4(JUP):c.1236G>C (p.Thr412=) GRCh37: Chr17:39919496 GRCh38: Chr17:41763244	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 195351886.	NM_002230.4(JUP):c.1158+17G>A GRCh37: Chr17:39920948 GRCh38: Chr17:41764696	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 195236187.	NM_002230.4(JUP):c.1536A>G (p.Pro512=) GRCh37: Chr17:39915084 GRCh38: Chr17:41758832	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 194899988.	NM_002230.4(JUP):c.1972C>T (p.Pro658Ser) GRCh37: Chr17:39913741 GRCh38: Chr17:41757489	JUP	P658S	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 194696189.	NM_002230.4(JUP):c.1207G>T (p.Asp403Tyr) GRCh37: Chr17:39919525 GRCh38: Chr17:41763273	JUP	D403Y	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 194636790.	NM_002230.4(JUP):c.1055-11C>G GRCh37: Chr17:39921079 GRCh38: Chr17:41764827	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 194105091.	NM_002230.4(JUP):c.1498-20A>G GRCh37: Chr17:39915142 GRCh38: Chr17:41758890	JUP		Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 193385992.	NM_002230.4(JUP):c.1247C>T (p.Ser416Phe) GRCh37: Chr17:39919485 GRCh38: Chr17:41763233	JUP	S416F	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jan 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 193361893.	NM_002230.4(JUP):c.1099C>T (p.Arg367Cys) GRCh37: Chr17:39921024 GRCh38: Chr17:41764772	JUP	R367C	Naxos disease, Arrhythmogenic right ventricular dysplasia 12	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 193148094.	NM_002230.4(JUP):c.318G>T (p.Val106=) GRCh37: Chr17:39925820 GRCh38: Chr17:41769568	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 192505695.	NM_002230.4(JUP):c.1159-8C>A GRCh37: Chr17:39919581 GRCh38: Chr17:41763329	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 191620796.	NM_002230.4(JUP):c.1218C>A (p.Asn406Lys) GRCh37: Chr17:39919514 GRCh38: Chr17:41763262	JUP	N406K	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 191599197.	NM_002230.4(JUP):c.2203C>T (p.Pro735Ser) GRCh37: Chr17:39912031 GRCh38: Chr17:41755779	JUP	P735S	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 191058098.	NM_002230.4(JUP):c.700A>G (p.Met234Val) GRCh37: Chr17:39925228 GRCh38: Chr17:41768976	JUP	M234V	Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 191011599.	NM_002230.4(JUP):c.729G>C (p.Leu243=) GRCh37: Chr17:39923811 GRCh38: Chr17:41767559	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 1907515100.	NM_002230.4(JUP):c.1588C>T (p.Leu530=) GRCh37: Chr17:39915032 GRCh38: Chr17:41758780	JUP		Arrhythmogenic right ventricular dysplasia 12, Naxos disease	Likely benign (May 25, 2022)	criteria provided, single submitter

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