ClinVar for MedGen (Select 351237) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 895

<< First< Prev

Page of 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24410331.	NM_024422.6(DSC2):c.286A>T (p.Ile96Leu) GRCh37: Chr18:28672132 GRCh38: Chr18:31092169	DSC2	I96L	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 8, 2021)	criteria provided, single submitter
Select item 24282122.	NM_024422.6(DSC2):c.155-17G>T GRCh37: Chr18:28672280 GRCh38: Chr18:31092317	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 24268223.	NC_000018.9:g.(?_28647981)_(28681934_?)dup GRCh37: Chr18:28647981-28681934	DSC2		Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 24268214.	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 24268205.	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 24191286.	NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile) GRCh37: Chr18:28651804 GRCh38: Chr18:31071838	DSC2	T488I, T631I	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 24133197.	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 22018318.	NM_024422.6(DSC2):c.2508+20C>T GRCh37: Chr18:28648840 GRCh38: Chr18:31068874	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 22015019.	NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala) GRCh37: Chr18:28660107 GRCh38: Chr18:31080141	DSC2	G349A, G492A	Inborn genetic diseases, Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220054010.	NM_024422.6(DSC2):c.634A>G (p.Ile212Val) GRCh37: Chr18:28667773 GRCh38: Chr18:31087810	DSC2	I212V, I69V	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 220039111.	NM_024422.6(DSC2):c.1762A>T (p.Thr588Ser) GRCh37: Chr18:28654775 GRCh38: Chr18:31074809	DSC2	T588S, T445S	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 219945012.	NM_024422.6(DSC2):c.2251T>C (p.Tyr751His) GRCh37: Chr18:28649117 GRCh38: Chr18:31069151	DSC2	Y751H, Y608H	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 219626213.	NM_024422.6(DSC2):c.2373C>T (p.His791=) GRCh37: Chr18:28648995 GRCh38: Chr18:31069029	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 219329514.	NM_024422.6(DSC2):c.1795C>G (p.Pro599Ala) GRCh37: Chr18:28654742 GRCh38: Chr18:31074776	DSC2	P599A, P456A	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 219322315.	NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe) GRCh37: Chr18:28647994 GRCh38: Chr18:31068028	DSC2	C755F, C898F	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 219209416.	NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys) GRCh37: Chr18:28648985 GRCh38: Chr18:31069019	DSC2	E652K, E795K	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 218869817.	NM_024422.6(DSC2):c.882A>G (p.Leu294=) GRCh37: Chr18:28666599 GRCh38: Chr18:31086636	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 218840618.	NM_024422.6(DSC2):c.1296C>G (p.Ile432Met) GRCh37: Chr18:28660286 GRCh38: Chr18:31080320	DSC2	I432M, I289M	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 218695919.	NM_024422.6(DSC2):c.775+18C>T GRCh37: Chr18:28667614 GRCh38: Chr18:31087651	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 218123420.	NM_024422.6(DSC2):c.2175A>G (p.Pro725=) GRCh37: Chr18:28650767 GRCh38: Chr18:31070801	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 217999221.	NM_024422.6(DSC2):c.1889-14A>G GRCh37: Chr18:28651821 GRCh38: Chr18:31071855	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 217990222.	NM_024422.6(DSC2):c.1540C>G (p.Pro514Ala) GRCh37: Chr18:28659936 GRCh38: Chr18:31079970	DSC2	P371A, P514A	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 216663123.	NM_024422.6(DSC2):c.942+11C>A GRCh37: Chr18:28666528 GRCh38: Chr18:31086565	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 216427924.	NM_024422.6(DSC2):c.943-17T>A GRCh37: Chr18:28663043 GRCh38: Chr18:31083077	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 216006125.	NM_024422.6(DSC2):c.2142G>A (p.Leu714=) GRCh37: Chr18:28650800 GRCh38: Chr18:31070834	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 215921626.	NM_024422.6(DSC2):c.928C>G (p.Gln310Glu) GRCh37: Chr18:28666553 GRCh38: Chr18:31086590	DSC2	Q167E, Q310E	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 215545727.	NM_024422.6(DSC2):c.942+9A>G GRCh37: Chr18:28666530 GRCh38: Chr18:31086567	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 215348328.	NM_024422.6(DSC2):c.2289T>A (p.Ala763=) GRCh37: Chr18:28649079 GRCh38: Chr18:31069113	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 215265729.	NM_024422.6(DSC2):c.155-13A>G GRCh37: Chr18:28672276 GRCh38: Chr18:31092313	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 215185430.	NM_024422.6(DSC2):c.448G>T (p.Gly150Cys) GRCh37: Chr18:28671017 GRCh38: Chr18:31091054	DSC2	G7C, G150C	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 215166731.	NM_024422.6(DSC2):c.2559T>C (p.Tyr853=) GRCh37: Chr18:28648128 GRCh38: Chr18:31068162	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 215098532.	NM_024422.6(DSC2):c.877A>G (p.Thr293Ala) GRCh37: Chr18:28666604 GRCh38: Chr18:31086641	DSC2	T150A, T293A	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 214935733.	NM_024422.6(DSC2):c.1744G>A (p.Val582Met) GRCh37: Chr18:28654793 GRCh38: Chr18:31074827	DSC2	V439M, V582M	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 214784034.	NM_024422.6(DSC2):c.1312G>C (p.Val438Leu) GRCh37: Chr18:28660270 GRCh38: Chr18:31080304	DSC2	V295L, V438L	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 214662135.	NM_024422.6(DSC2):c.1521-23_1521-8del GRCh37: Chr18:28659963-28659978 GRCh38: Chr18:31079997-31080012	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 214609236.	NM_024422.6(DSC2):c.1752C>T (p.Ile584=) GRCh37: Chr18:28654785 GRCh38: Chr18:31074819	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 214274737.	NM_024422.6(DSC2):c.562G>A (p.Val188Met) GRCh37: Chr18:28669470 GRCh38: Chr18:31089507	DSC2	V188M, V45M	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214066438.	NM_024422.6(DSC2):c.372T>C (p.His124=) GRCh37: Chr18:28671093 GRCh38: Chr18:31091130	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 214025439.	NM_024422.6(DSC2):c.211T>G (p.Phe71Val) GRCh37: Chr18:28672207 GRCh38: Chr18:31092244	DSC2	F71V	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 213917840.	NM_024422.6(DSC2):c.328T>C (p.Phe110Leu) GRCh37: Chr18:28672090 GRCh38: Chr18:31092127	DSC2	F110L	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 213411541.	NM_024422.6(DSC2):c.1396G>C (p.Asp466His) GRCh37: Chr18:28660186 GRCh38: Chr18:31080220	DSC2	D466H, D323H	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 213257342.	NM_024422.6(DSC2):c.2126-20A>C GRCh37: Chr18:28650836 GRCh38: Chr18:31070870	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 213253643.	NM_024422.6(DSC2):c.2124T>G (p.Phe708Leu) GRCh37: Chr18:28651572 GRCh38: Chr18:31071606	DSC2	F565L, F708L	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 213252044.	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 213249545.	NM_024422.6(DSC2):c.621A>G (p.Glu207=) GRCh37: Chr18:28669411 GRCh38: Chr18:31089448	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 213000246.	NM_024422.6(DSC2):c.1255G>A (p.Val419Ile) GRCh37: Chr18:28662212 GRCh38: Chr18:31082246	DSC2	V276I, V419I	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212688547.	NM_024422.6(DSC2):c.1494A>G (p.Pro498=) GRCh37: Chr18:28660088 GRCh38: Chr18:31080122	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212533748.	NM_024422.6(DSC2):c.545C>T (p.Pro182Leu) GRCh37: Chr18:28669487 GRCh38: Chr18:31089524	DSC2	P39L, P182L	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212376849.	NM_024422.6(DSC2):c.629A>C (p.Glu210Ala) GRCh37: Chr18:28669403 GRCh38: Chr18:31089440	DSC2	E210A, E67A	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 212178550.	NM_024422.6(DSC2):c.155T>A (p.Val52Asp) GRCh37: Chr18:28672263 GRCh38: Chr18:31092300	DSC2	V52D	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 212166451.	NM_024422.6(DSC2):c.254T>C (p.Ile85Thr) GRCh37: Chr18:28672164 GRCh38: Chr18:31092201	DSC2	I85T	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211745852.	NM_024422.6(DSC2):c.776-5T>C GRCh37: Chr18:28666710 GRCh38: Chr18:31086747	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211641653.	NM_024422.6(DSC2):c.779C>T (p.Thr260Ile) GRCh37: Chr18:28666702 GRCh38: Chr18:31086739	DSC2	T117I, T260I	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 211435254.	NM_024422.6(DSC2):c.173T>G (p.Phe58Cys) GRCh37: Chr18:28672245 GRCh38: Chr18:31092282	DSC2	F58C	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 211089455.	NM_024422.6(DSC2):c.16C>G (p.Pro6Ala) GRCh37: Chr18:28681919 GRCh38: Chr18:31101956	DSC2, DSCAS	P6A	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210678356.	NM_024422.6(DSC2):c.2126-6C>T GRCh37: Chr18:28650822 GRCh38: Chr18:31070856	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 210322157.	NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro) GRCh37: Chr18:28662897 GRCh38: Chr18:31082931	DSC2	T215P, T358P	Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype	Uncertain significance (Jan 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 209943558.	NM_024422.6(DSC2):c.2624G>T (p.Arg875Leu) GRCh37: Chr18:28648063 GRCh38: Chr18:31068097	DSC2	R875L, R732L	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 208979459.	NM_024422.6(DSC2):c.2265C>T (p.Gly755=) GRCh37: Chr18:28649103 GRCh38: Chr18:31069137	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 208487960.	NM_024422.6(DSC2):c.1658A>G (p.Asp553Gly) GRCh37: Chr18:28659818 GRCh38: Chr18:31079852	DSC2	D553G, D410G	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 208177661.	NM_024422.6(DSC2):c.2309G>A (p.Gly770Asp) GRCh37: Chr18:28649059 GRCh38: Chr18:31069093	DSC2	G770D, G627D	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 207991962.	NM_024422.6(DSC2):c.1663+9T>C GRCh37: Chr18:28659804 GRCh38: Chr18:31079838	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 207886563.	NM_024422.6(DSC2):c.1340C>G (p.Ala447Gly) GRCh37: Chr18:28660242 GRCh38: Chr18:31080276	DSC2	A304G, A447G	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207853264.	NM_024422.6(DSC2):c.719A>G (p.Tyr240Cys) GRCh37: Chr18:28667688 GRCh38: Chr18:31087725	DSC2	Y240C, Y97C	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 207784765.	NM_024422.6(DSC2):c.2126-15dup GRCh37: Chr18:28650830-28650831 GRCh38: Chr18:31070864-31070865	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 207628666.	NM_024422.6(DSC2):c.775+11C>A GRCh37: Chr18:28667621 GRCh38: Chr18:31087658	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 207113667.	NM_024422.6(DSC2):c.2032A>G (p.Thr678Ala) GRCh37: Chr18:28651664 GRCh38: Chr18:31071698	DSC2	T678A, T535A	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 206889368.	NM_024422.6(DSC2):c.2217A>G (p.Val739=) GRCh37: Chr18:28650725 GRCh38: Chr18:31070759	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 206651369.	NM_024422.6(DSC2):c.2695A>T (p.Met899Leu) GRCh37: Chr18:28647992 GRCh38: Chr18:31068026	DSC2	M756L, M899L	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 206560170.	NM_024422.6(DSC2):c.2201A>G (p.Gln734Arg) GRCh37: Chr18:28650741 GRCh38: Chr18:31070775	DSC2	Q591R, Q734R	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 206156771.	NM_024422.6(DSC2):c.2509-20_2509-18del GRCh37: Chr18:28648196-28648198 GRCh38: Chr18:31068230-31068232	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 205625772.	NM_024422.6(DSC2):c.1939G>A (p.Val647Ile) GRCh37: Chr18:28651757 GRCh38: Chr18:31071791	DSC2	V504I, V647I	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 205313473.	NM_024422.6(DSC2):c.381A>G (p.Glu127=) GRCh37: Chr18:28671084 GRCh38: Chr18:31091121	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 205133374.	NM_024422.6(DSC2):c.255T>C (p.Ile85=) GRCh37: Chr18:28672163 GRCh38: Chr18:31092200	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 204632375.	NM_024422.6(DSC2):c.1264C>T (p.Pro422Ser) GRCh37: Chr18:28660318 GRCh38: Chr18:31080352	DSC2	P422S, P279S	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 203989476.	NM_024422.6(DSC2):c.869C>T (p.Pro290Leu) GRCh37: Chr18:28666612 GRCh38: Chr18:31086649	DSC2	P290L, P147L	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 203965277.	NM_024422.6(DSC2):c.118C>A (p.Pro40Thr) GRCh37: Chr18:28673558 GRCh38: Chr18:31093595	DSC2	P40T	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 203945178.	NM_024422.6(DSC2):c.1786G>C (p.Ala596Pro) GRCh37: Chr18:28654751 GRCh38: Chr18:31074785	DSC2	A596P, A453P	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 203703879.	NM_024422.6(DSC2):c.853A>G (p.Ile285Val) GRCh37: Chr18:28666628 GRCh38: Chr18:31086665	DSC2	I142V, I285V	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 202988980.	NM_024422.6(DSC2):c.1888+20G>A GRCh37: Chr18:28654629 GRCh38: Chr18:31074663	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 202813881.	NM_024422.6(DSC2):c.69+15G>C GRCh37: Chr18:28681851 GRCh38: Chr18:31101888	DSC2, DSCAS		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 202489182.	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 202240383.	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 202144184.	NM_024422.6(DSC2):c.2194T>C (p.Leu732=) GRCh37: Chr18:28650748 GRCh38: Chr18:31070782	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 201955985.	NM_024422.6(DSC2):c.355-10A>G GRCh37: Chr18:28671120 GRCh38: Chr18:31091157	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 201439986.	NM_024422.6(DSC2):c.660G>T (p.Gly220=) GRCh37: Chr18:28667747 GRCh38: Chr18:31087784	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 201393987.	NM_024422.6(DSC2):c.1520+4C>T GRCh37: Chr18:28660058 GRCh38: Chr18:31080092	DSC2		Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 201178688.	NM_024422.6(DSC2):c.2508+15G>A GRCh37: Chr18:28648845 GRCh38: Chr18:31068879	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 201003389.	NM_024422.6(DSC2):c.2508+19C>A GRCh37: Chr18:28648841 GRCh38: Chr18:31068875	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 200958390.	NM_024422.6(DSC2):c.940G>A (p.Glu314Lys) GRCh37: Chr18:28666541 GRCh38: Chr18:31086578	DSC2	E171K, E314K	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 200690791.	NM_024422.6(DSC2):c.2570_2573dup (p.Asn858delinsLysTer) GRCh37: Chr18:28648113-28648114 GRCh38: Chr18:31068147-31068148	DSC2		Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 200420592.	NM_024422.6(DSC2):c.318G>T (p.Lys106Asn) GRCh37: Chr18:28672100 GRCh38: Chr18:31092137	DSC2	K106N	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 200133893.	NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp) GRCh37: Chr18:28662290 GRCh38: Chr18:31082324	DSC2	Y250D, Y393D	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 199974494.	NM_024422.6(DSC2):c.1608G>A (p.Glu536=) GRCh37: Chr18:28659868 GRCh38: Chr18:31079902	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 199785595.	NM_024422.6(DSC2):c.474+5C>G GRCh37: Chr18:28670986 GRCh38: Chr18:31091023	DSC2		Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 199653596.	NM_024422.6(DSC2):c.1848T>A (p.Thr616=) GRCh37: Chr18:28654689 GRCh38: Chr18:31074723	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 199616197.	NM_024422.6(DSC2):c.2010C>T (p.Asp670=) GRCh37: Chr18:28651686 GRCh38: Chr18:31071720	DSC2		Arrhythmogenic right ventricular dysplasia 11	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 199603598.	NM_024422.6(DSC2):c.1889A>T (p.Asp630Val) GRCh37: Chr18:28651807 GRCh38: Chr18:31071841	DSC2	D630V, D487V	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 199537299.	NM_024422.6(DSC2):c.1247T>C (p.Val416Ala) GRCh37: Chr18:28662220 GRCh38: Chr18:31082254	DSC2	V273A, V416A	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 1994282100.	NM_024422.6(DSC2):c.413C>T (p.Ala138Val) GRCh37: Chr18:28671052 GRCh38: Chr18:31091089	DSC2	A138V	Arrhythmogenic right ventricular dysplasia 11	Uncertain significance (May 14, 2022)	criteria provided, single submitter

<< First< Prev

Page of 9