ClinVar for MedGen (Select 336069) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 2688

<< First< Prev

Page of 27

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022361.	NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs) GRCh37: Chr6:7584783-7584786 GRCh38: Chr6:7584550-7584553	DSP	E1988fs, E2431fs, E1832fs	Arrhythmogenic right ventricular dysplasia 8	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 24281542.	NM_004415.4(DSP):c.4826C>A (p.Ala1609Asp) GRCh37: Chr6:7581249 GRCh38: Chr6:7581016	DSP	A1609D	Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 24251103.	NC_000006.11:g.(?_7582865)_(7586121_?)del GRCh37: Chr6:7582865-7586121	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Pathogenic (Jan 15, 2021)	criteria provided, single submitter
Select item 24251094.	NC_000006.11:g.(?_7582855)_(7586131_?)del GRCh37: Chr6:7582855-7586131	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Pathogenic (Oct 17, 2017)	criteria provided, single submitter
Select item 24251085.	NC_000006.11:g.(?_7567563)_(7584301_?)del GRCh37: Chr6:7567563-7584301	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 24251076.	NC_000006.11:g.(?_7576220)_(7581055_?)del GRCh37: Chr6:7576220-7581055	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 24251067.	NC_000006.11:g.(?_7542149)_(7542338_?)dup GRCh37: Chr6:7542149-7542338	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 24251058.	NC_000006.11:g.(?_7542149)_(7880576_?)dup GRCh37: Chr6:7542149-7880576	DSP, SNRNP48, BMP6		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 24251049.	NC_000006.11:g.(?_7542149)_(7542338_?)del GRCh37: Chr6:7542149-7542338	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 242131410.	NM_004415.4(DSP):c.5489A>G (p.Gln1830Arg) GRCh37: Chr6:7582984 GRCh38: Chr6:7582751	DSP	Q1231R, Q1387R, Q1830R	Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 241997711.	NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter) GRCh37: Chr6:7585455 GRCh38: Chr6:7585222	DSP	Q2055, Q2211, Q2654*	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 241945612.	NM_004415.4(DSP):c.2489C>T (p.Thr830Ile) GRCh37: Chr6:7575580 GRCh38: Chr6:7575347	DSP	T830I	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 241861213.	NM_004415.4(DSP):c.6013G>A (p.Ala2005Thr) GRCh37: Chr6:7583508 GRCh38: Chr6:7583275	DSP	A1406T, A1562T, A2005T	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 241843314.	NM_004415.4(DSP):c.3262C>T (p.Leu1088=) GRCh37: Chr6:7579685 GRCh38: Chr6:7579452	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype	Likely benign (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241807915.	NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser) GRCh37: Chr6:7583467 GRCh38: Chr6:7583234	DSP	L1392S, L1548S, L1991S	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 241764116.	NM_004415.4(DSP):c.4812G>A (p.Ser1604=) GRCh37: Chr6:7581235 GRCh38: Chr6:7581002	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 241712417.	NM_004415.4(DSP):c.4685C>G (p.Ser1562Cys) GRCh37: Chr6:7581108 GRCh38: Chr6:7580875	DSP	S1562C	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 241646318.	NM_004415.4(DSP):c.939+15C>T GRCh37: Chr6:7565768 GRCh38: Chr6:7565535	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 241615519.	NM_004415.4(DSP):c.8199G>T (p.Thr2733=) GRCh37: Chr6:7585694 GRCh38: Chr6:7585461	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 241347520.	NM_004415.4(DSP):c.3815A>G (p.Glu1272Gly) GRCh37: Chr6:7580238 GRCh38: Chr6:7580005	DSP	E1272G	Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 220315721.	NM_004415.4(DSP):c.2436+6T>C GRCh37: Chr6:7575034 GRCh38: Chr6:7574801	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 220241722.	NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu) GRCh37: Chr6:7583154 GRCh38: Chr6:7582921	DSP	K1288E, K1887E, K1444E	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 220219223.	NM_004415.4(DSP):c.2986-13_2986-10del GRCh37: Chr6:7578678-7578681 GRCh38: Chr6:7578445-7578448	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 220057124.	NM_004415.4(DSP):c.7920C>T (p.Gly2640=) GRCh37: Chr6:7585415 GRCh38: Chr6:7585182	DSP		Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 220038225.	NM_004415.4(DSP):c.3157A>G (p.Asn1053Asp) GRCh37: Chr6:7579580 GRCh38: Chr6:7579347	DSP	N1053D	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 220024226.	NM_004415.4(DSP):c.3340C>A (p.Leu1114Met) GRCh37: Chr6:7579763 GRCh38: Chr6:7579530	DSP	L1114M	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 219909827.	NM_004415.4(DSP):c.3764G>C (p.Arg1255Thr) GRCh37: Chr6:7580187 GRCh38: Chr6:7579954	DSP	R1255T	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 219815528.	NM_004415.4(DSP):c.1574+12A>G GRCh37: Chr6:7569585 GRCh38: Chr6:7569352	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 219815429.	NM_004415.4(DSP):c.2986-18T>C GRCh37: Chr6:7578679 GRCh38: Chr6:7578446	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 219785430.	NM_004415.4(DSP):c.598-19C>T GRCh37: Chr6:7562866 GRCh38: Chr6:7562633	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 219661631.	NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln) GRCh37: Chr6:7583347 GRCh38: Chr6:7583114	DSP	R1352Q, R1508Q, R1951Q	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 219657432.	NM_004415.4(DSP):c.1475A>G (p.Lys492Arg) GRCh37: Chr6:7569474 GRCh38: Chr6:7569241	DSP	K492R	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 219479133.	NM_004415.4(DSP):c.7268A>G (p.Asn2423Ser) GRCh37: Chr6:7584763 GRCh38: Chr6:7584530	DSP	N1824S, N1980S, N2423S	Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 219409034.	NM_004415.4(DSP):c.1660A>G (p.Met554Val) GRCh37: Chr6:7570755 GRCh38: Chr6:7570522	DSP	M554V	Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219287035.	NM_004415.4(DSP):c.350A>G (p.Gln117Arg) GRCh37: Chr6:7558425 GRCh38: Chr6:7558192	DSP	Q117R	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 219279836.	NM_004415.4(DSP):c.6946T>C (p.Tyr2316His) GRCh37: Chr6:7584441 GRCh38: Chr6:7584208	DSP	Y1717H, Y1873H, Y2316H	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219215837.	NM_004415.4(DSP):c.1708del (p.Thr570fs) GRCh37: Chr6:7571619 GRCh38: Chr6:7571386	DSP	T570fs	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 219200838.	NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr) GRCh37: Chr6:7583848 GRCh38: Chr6:7583615	DSP	R2118T, R1675T, R1519T	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, not provided	Uncertain significance (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219159139.	NM_004415.4(DSP):c.7725T>C (p.Ser2575=) GRCh37: Chr6:7585220 GRCh38: Chr6:7584987	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 218965140.	NM_004415.4(DSP):c.2631-12A>G GRCh37: Chr6:7576515 GRCh38: Chr6:7576282	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 218923941.	NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr) GRCh37: Chr6:7583599 GRCh38: Chr6:7583366	DSP	K2035T, K1436T, K1592T	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 218704742.	NM_004415.4(DSP):c.572G>A (p.Cys191Tyr) GRCh37: Chr6:7559608 GRCh38: Chr6:7559375	DSP	C191Y	Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218693143.	NM_004415.4(DSP):c.3085-20T>A GRCh37: Chr6:7579488 GRCh38: Chr6:7579255	DSP		Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 218689944.	NM_004415.4(DSP):c.8417C>T (p.Ala2806Val) GRCh37: Chr6:7585912 GRCh38: Chr6:7585679	DSP	A2207V, A2363V, A2806V	Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 218386445.	NM_004415.4(DSP):c.2631-19T>G GRCh37: Chr6:7576508 GRCh38: Chr6:7576275	DSP		Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 218303246.	NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys) GRCh37: Chr6:7579961 GRCh38: Chr6:7579728	DSP	E1180K	Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 218081647.	NM_004415.4(DSP):c.1847A>G (p.Gln616Arg) GRCh37: Chr6:7571761 GRCh38: Chr6:7571528	DSP	Q616R	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 218038148.	NM_004415.4(DSP):c.1303G>A (p.Val435Met) GRCh37: Chr6:7568706 GRCh38: Chr6:7568473	DSP	V435M	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 217960149.	NM_004415.4(DSP):c.3591C>T (p.Asn1197=) GRCh37: Chr6:7580014 GRCh38: Chr6:7579781	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 217740950.	NM_004415.4(DSP):c.6871T>C (p.Leu2291=) GRCh37: Chr6:7584366 GRCh38: Chr6:7584133	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 217546251.	NM_004415.4(DSP):c.3788C>T (p.Ala1263Val) GRCh37: Chr6:7580211 GRCh38: Chr6:7579978	DSP	A1263V	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 217466352.	NM_004415.4(DSP):c.4593G>C (p.Gln1531His) GRCh37: Chr6:7581016 GRCh38: Chr6:7580783	DSP	Q1531H	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 217272853.	NM_004415.4(DSP):c.6021A>G (p.Glu2007=) GRCh37: Chr6:7583516 GRCh38: Chr6:7583283	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 217189654.	NM_004415.4(DSP):c.8403C>G (p.Arg2801=) GRCh37: Chr6:7585898 GRCh38: Chr6:7585665	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 217184555.	NM_004415.4(DSP):c.4351C>G (p.Leu1451Val) GRCh37: Chr6:7580774 GRCh38: Chr6:7580541	DSP	L1451V	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 217175156.	NM_004415.4(DSP):c.6305G>T (p.Gly2102Val) GRCh37: Chr6:7583800 GRCh38: Chr6:7583567	DSP	G1503V, G1659V, G2102V	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 217099157.	NM_004415.4(DSP):c.4392A>G (p.Arg1464=) GRCh37: Chr6:7580815 GRCh38: Chr6:7580582	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 217058958.	NM_004415.4(DSP):c.1404C>T (p.Asp468=) GRCh37: Chr6:7568807 GRCh38: Chr6:7568574	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Benign (Apr 12, 2022)	criteria provided, single submitter
Select item 217049859.	NM_004415.4(DSP):c.3640A>G (p.Ile1214Val) GRCh37: Chr6:7580063 GRCh38: Chr6:7579830	DSP	I1214V	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 216986260.	NM_004415.4(DSP):c.666G>A (p.Arg222=) GRCh37: Chr6:7562953 GRCh38: Chr6:7562720	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 216981461.	NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln) GRCh37: Chr6:7584346 GRCh38: Chr6:7584113	DSP	R1685Q, R1841Q, R2284Q	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 216978462.	NM_004415.4(DSP):c.6090T>A (p.Ser2030=) GRCh37: Chr6:7583585 GRCh38: Chr6:7583352	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 216919663.	NM_004415.4(DSP):c.2002A>T (p.Met668Leu) GRCh37: Chr6:7572173 GRCh38: Chr6:7571940	DSP	M668L	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 216788564.	NM_004415.4(DSP):c.8218G>C (p.Glu2740Gln) GRCh37: Chr6:7585713 GRCh38: Chr6:7585480	DSP	E2740Q, E2141Q, E2297Q	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 216772965.	NM_004415.4(DSP):c.5555G>T (p.Arg1852Leu) GRCh37: Chr6:7583050 GRCh38: Chr6:7582817	DSP	R1253L, R1409L, R1852L	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 216725566.	NM_004415.4(DSP):c.778-12C>T GRCh37: Chr6:7565580 GRCh38: Chr6:7565347	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216651967.	NM_004415.4(DSP):c.1288G>A (p.Glu430Lys) GRCh37: Chr6:7568691 GRCh38: Chr6:7568458	DSP	E430K	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 216636168.	NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys) GRCh37: Chr6:7586007 GRCh38: Chr6:7585774	DSP	R2239C, R2838C, R2395C	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 216585869.	NM_004415.4(DSP):c.2631-14C>G GRCh37: Chr6:7576513 GRCh38: Chr6:7576280	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 216547370.	NM_004415.4(DSP):c.8148A>G (p.Lys2716=) GRCh37: Chr6:7585643 GRCh38: Chr6:7585410	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 216510671.	NM_004415.4(DSP):c.1357C>A (p.Pro453Thr) GRCh37: Chr6:7568760 GRCh38: Chr6:7568527	DSP	P453T	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 216502372.	NM_004415.4(DSP):c.2794-17T>C GRCh37: Chr6:7577175 GRCh38: Chr6:7576942	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 216463573.	NM_004415.4(DSP):c.5609A>G (p.Gln1870Arg) GRCh37: Chr6:7583104 GRCh38: Chr6:7582871	DSP	Q1271R, Q1427R, Q1870R	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 216360174.	NM_004415.4(DSP):c.7679T>C (p.Met2560Thr) GRCh37: Chr6:7585174 GRCh38: Chr6:7584941	DSP	M2117T, M1961T, M2560T	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 216318675.	NM_004415.4(DSP):c.1378C>T (p.Pro460Ser) GRCh37: Chr6:7568781 GRCh38: Chr6:7568548	DSP	P460S	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 216312576.	NM_004415.4(DSP):c.1574+16T>C GRCh37: Chr6:7569589 GRCh38: Chr6:7569356	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 216186877.	NM_004415.4(DSP):c.665G>T (p.Arg222Leu) GRCh37: Chr6:7562952 GRCh38: Chr6:7562719	DSP	R222L	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 216159278.	NM_004415.4(DSP):c.7621A>C (p.Arg2541=) GRCh37: Chr6:7585116 GRCh38: Chr6:7584883	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 215947179.	NM_004415.4(DSP):c.4737G>A (p.Arg1579=) GRCh37: Chr6:7581160 GRCh38: Chr6:7580927	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 215896480.	NM_004415.4(DSP):c.1395T>G (p.Ala465=) GRCh37: Chr6:7568798 GRCh38: Chr6:7568565	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 215848681.	NM_004415.4(DSP):c.3480T>C (p.Ser1160=) GRCh37: Chr6:7579903 GRCh38: Chr6:7579670	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 215816282.	NM_004415.4(DSP):c.5225A>G (p.Asp1742Gly) GRCh37: Chr6:7581648 GRCh38: Chr6:7581415	DSP	D1742G	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 215759583.	NM_004415.4(DSP):c.2878-14T>G GRCh37: Chr6:7577998 GRCh38: Chr6:7577765	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 215738684.	NM_004415.4(DSP):c.2404G>C (p.Asp802His) GRCh37: Chr6:7574996 GRCh38: Chr6:7574763	DSP	D802H	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 215678085.	NM_004415.4(DSP):c.3312A>G (p.Ile1104Met) GRCh37: Chr6:7579735 GRCh38: Chr6:7579502	DSP	I1104M	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 215524586.	NM_004415.4(DSP):c.348C>T (p.Asp116=) GRCh37: Chr6:7558423 GRCh38: Chr6:7558190	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215404887.	NM_004415.4(DSP):c.5748G>A (p.Lys1916=) GRCh37: Chr6:7583243 GRCh38: Chr6:7583010	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 215277888.	NM_004415.4(DSP):c.7177A>C (p.Lys2393Gln) GRCh37: Chr6:7584672 GRCh38: Chr6:7584439	DSP	K1794Q, K1950Q, K2393Q	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 215263189.	NM_004415.4(DSP):c.3996T>A (p.Ala1332=) GRCh37: Chr6:7580419 GRCh38: Chr6:7580186	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 215166590.	NM_004415.4(DSP):c.8387A>G (p.Asp2796Gly) GRCh37: Chr6:7585882 GRCh38: Chr6:7585649	DSP	D2197G, D2353G, D2796G	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 215062591.	NM_004415.4(DSP):c.939+4A>C GRCh37: Chr6:7565757 GRCh38: Chr6:7565524	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 215013492.	NM_004415.4(DSP):c.81C>G (p.Arg27=) GRCh37: Chr6:7542229 GRCh38: Chr6:7541996	DSP, DSP-AS1		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 215006593.	NM_004415.4(DSP):c.7090G>A (p.Gly2364Ser) GRCh37: Chr6:7584585 GRCh38: Chr6:7584352	DSP	G1765S, G2364S, G1921S	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 214630294.	NM_004415.4(DSP):c.6207C>G (p.Val2069=) GRCh37: Chr6:7583702 GRCh38: Chr6:7583469	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 214630095.	NM_004415.4(DSP):c.2379G>A (p.Glu793=) GRCh37: Chr6:7574971 GRCh38: Chr6:7574738	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 214611096.	NM_004415.4(DSP):c.4514C>A (p.Ala1505Glu) GRCh37: Chr6:7580937 GRCh38: Chr6:7580704	DSP	A1505E	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 214549197.	NM_004415.4(DSP):c.5697C>G (p.Ile1899Met) GRCh37: Chr6:7583192 GRCh38: Chr6:7582959	DSP	I1899M, I1300M, I1456M	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Sep 5, 2021)	criteria provided, single submitter
Select item 214522298.	NM_004415.4(DSP):c.78G>A (p.Leu26=) GRCh37: Chr6:7542226 GRCh38: Chr6:7541993	DSP, DSP-AS1		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 214441199.	NM_004415.4(DSP):c.8552A>G (p.Asp2851Gly) GRCh37: Chr6:7586047 GRCh38: Chr6:7585814	DSP	D2252G, D2851G, D2408G	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 2143295100.	NM_004415.4(DSP):c.3414C>T (p.Asp1138=) GRCh37: Chr6:7579837 GRCh38: Chr6:7579604	DSP		Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8	Benign (Jun 26, 2022)	criteria provided, single submitter

<< First< Prev

Page of 27