ClinVar for MedGen (Select 462617) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 357

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25017701.	NM_144573.4(NEXN):c.1668_1673del (p.Glu561_Glu562del) GRCh37: Chr1:78408152-78408157 GRCh38: Chr1:77942467-77942472	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (May 25, 2021)	criteria provided, single submitter
Select item 24284572.	NM_144573.4(NEXN):c.362C>A (p.Thr121Lys) GRCh37: Chr1:78383873 GRCh38: Chr1:77918188	LOC126805765, NEXN	T121K, T57K	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 24272913.	NC_000001.10:g.(?_78398947)_(78401749_?)del GRCh37: Chr1:78398947-78401749	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 24181994.	NM_144573.4(NEXN):c.1252-19_1252-18del GRCh37: Chr1:78401489-78401490 GRCh38: Chr1:77935804-77935805	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 22027755.	NM_144573.4(NEXN):c.106G>A (p.Glu36Lys) GRCh37: Chr1:78383329 GRCh38: Chr1:77917644	NEXN	E36K	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 21985706.	NM_144573.4(NEXN):c.345G>T (p.Glu115Asp) GRCh37: Chr1:78383856 GRCh38: Chr1:77918171	LOC126805765, NEXN	E115D, E51D	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 21884077.	NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys) GRCh37: Chr1:78399075 GRCh38: Chr1:77933390	NEXN	E324K, E388K	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 21759548.	NM_144573.4(NEXN):c.1112C>A (p.Pro371Gln) GRCh37: Chr1:78399025 GRCh38: Chr1:77933340	NEXN	P371Q, P307Q	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 21733839.	NM_144573.4(NEXN):c.1200G>A (p.Lys400=) GRCh37: Chr1:78399113 GRCh38: Chr1:77933428	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 216892610.	NM_144573.4(NEXN):c.612C>T (p.Tyr204=) GRCh37: Chr1:78392221 GRCh38: Chr1:77926536	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 216513111.	NM_144573.4(NEXN):c.1509C>T (p.Ser503=) GRCh37: Chr1:78407743 GRCh38: Chr1:77942058	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 216160112.	NM_144573.4(NEXN):c.1084A>C (p.Lys362Gln) GRCh37: Chr1:78398997 GRCh38: Chr1:77933312	NEXN	K362Q, K298Q	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215649613.	NM_144573.4(NEXN):c.688-1G>A GRCh37: Chr1:78392400 GRCh38: Chr1:77926715	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 215605414.	NM_144573.4(NEXN):c.864+11A>G GRCh37: Chr1:78392588 GRCh38: Chr1:77926903	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 215431115.	NM_144573.4(NEXN):c.1752C>T (p.Phe584=) GRCh37: Chr1:78408238 GRCh38: Chr1:77942553	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 214431116.	NM_144573.4(NEXN):c.1659G>C (p.Lys553Asn) GRCh37: Chr1:78407893 GRCh38: Chr1:77942208	NEXN	K489N, K553N	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 214421917.	NM_144573.4(NEXN):c.524C>G (p.Pro175Arg) GRCh37: Chr1:78392133 GRCh38: Chr1:77926448	NEXN	P175R, P111R	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 214203018.	NM_144573.4(NEXN):c.220-17T>C GRCh37: Chr1:78383628 GRCh38: Chr1:77917943	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 213259019.	NM_144573.4(NEXN):c.1084A>T (p.Lys362Ter) GRCh37: Chr1:78398997 GRCh38: Chr1:77933312	NEXN	K298, K362	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 212792020.	NM_144573.4(NEXN):c.1959G>A (p.Met653Ile) GRCh37: Chr1:78408445 GRCh38: Chr1:77942760	NEXN	M653I, M589I	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212786821.	NM_144573.4(NEXN):c.1535_1537dup (p.Asn512_Met513insAsn) GRCh37: Chr1:78407767-78407768 GRCh38: Chr1:77942082-77942083	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 212322622.	NM_144573.4(NEXN):c.1501A>T (p.Arg501Ter) GRCh37: Chr1:78407735 GRCh38: Chr1:77942050	NEXN	R437, R501	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 212316223.	NM_144573.4(NEXN):c.1383A>G (p.Lys461=) GRCh37: Chr1:78401639 GRCh38: Chr1:77935954	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212110824.	NM_144573.4(NEXN):c.490-15T>A GRCh37: Chr1:78392084 GRCh38: Chr1:77926399	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 211868025.	NM_144573.4(NEXN):c.676del (p.Ser226fs) GRCh37: Chr1:78392283 GRCh38: Chr1:77926598	NEXN	S162fs, S226fs	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 211668326.	NM_144573.4(NEXN):c.1659+8G>A GRCh37: Chr1:78407901 GRCh38: Chr1:77942216	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 210397327.	NM_144573.4(NEXN):c.717dup (p.Glu240fs) GRCh37: Chr1:78392423-78392424 GRCh38: Chr1:77926738-77926739	NEXN	E240fs, E176fs	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 210151728.	NM_144573.4(NEXN):c.1930del (p.Thr644fs) GRCh37: Chr1:78408414 GRCh38: Chr1:77942729	NEXN	T580fs, T644fs	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 209917529.	NM_144573.4(NEXN):c.802G>C (p.Glu268Gln) GRCh37: Chr1:78392515 GRCh38: Chr1:77926830	NEXN	E204Q, E268Q	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209902630.	NM_144573.4(NEXN):c.1585_1594del (p.Gln529fs) GRCh37: Chr1:78407811-78407820 GRCh38: Chr1:77942126-77942135	NEXN	Q465fs, Q529fs	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 208232231.	NM_144573.4(NEXN):c.1088C>T (p.Thr363Ile) GRCh37: Chr1:78399001 GRCh38: Chr1:77933316	NEXN	T299I, T363I	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 207912532.	NM_144573.4(NEXN):c.730C>T (p.Pro244Ser) GRCh37: Chr1:78392443 GRCh38: Chr1:77926758	NEXN	P180S, P244S	Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Nov 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205176733.	NM_144573.4(NEXN):c.467C>T (p.Thr156Met) GRCh37: Chr1:78390892 GRCh38: Chr1:77925207	NEXN	T92M, T156M	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 205108234.	NM_144573.4(NEXN):c.1525C>A (p.His509Asn) GRCh37: Chr1:78407759 GRCh38: Chr1:77942074	NEXN	H445N, H509N	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 204525835.	NM_144573.4(NEXN):c.1659+2T>C GRCh37: Chr1:78407895 GRCh38: Chr1:77942210	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 204276236.	NM_144573.4(NEXN):c.586_591del (p.Arg196_Glu197del) GRCh37: Chr1:78392192-78392197 GRCh38: Chr1:77926507-77926512	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 204065037.	NM_144573.4(NEXN):c.28-12C>A GRCh37: Chr1:78383239 GRCh38: Chr1:77917554	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 203083938.	NM_144573.4(NEXN):c.1411C>A (p.Arg471=) GRCh37: Chr1:78401667 GRCh38: Chr1:77935982	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202511239.	NM_144573.4(NEXN):c.651A>G (p.Pro217=) GRCh37: Chr1:78392260 GRCh38: Chr1:77926575	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202489240.	NM_144573.4(NEXN):c.314G>C (p.Arg105Thr) GRCh37: Chr1:78383825 GRCh38: Chr1:77918140	LOC126805765, NEXN	R105T, R41T	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 202369241.	NM_144573.4(NEXN):c.354_357del (p.Lys119fs) GRCh37: Chr1:78383862-78383865 GRCh38: Chr1:77918177-77918180	LOC126805765, NEXN	K119fs, K55fs	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 202343342.	NM_144573.4(NEXN):c.1049A>G (p.Asn350Ser) GRCh37: Chr1:78395185 GRCh38: Chr1:77929500	NEXN	N350S, N286S	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 201642643.	NM_144573.4(NEXN):c.1182G>A (p.Glu394=) GRCh37: Chr1:78399095 GRCh38: Chr1:77933410	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201639644.	NM_144573.4(NEXN):c.1867C>G (p.Gln623Glu) GRCh37: Chr1:78408353 GRCh38: Chr1:77942668	NEXN	Q623E, Q559E	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 201417345.	NM_144573.4(NEXN):c.761T>C (p.Leu254Pro) GRCh37: Chr1:78392474 GRCh38: Chr1:77926789	NEXN	L254P, L190P	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 199717646.	NM_144573.4(NEXN):c.1886A>G (p.Gln629Arg) GRCh37: Chr1:78408372 GRCh38: Chr1:77942687	NEXN	Q565R, Q629R	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 199357647.	NM_144573.4(NEXN):c.1170del (p.Lys390fs) GRCh37: Chr1:78399079 GRCh38: Chr1:77933394	NEXN	K390fs, K326fs	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 198979748.	NM_144573.4(NEXN):c.1829A>G (p.Lys610Arg) GRCh37: Chr1:78408315 GRCh38: Chr1:77942630	NEXN	K610R, K546R	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 198287049.	NM_144573.4(NEXN):c.687+6T>A GRCh37: Chr1:78392302 GRCh38: Chr1:77926617	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 196336350.	NM_144573.4(NEXN):c.1374G>T (p.Leu458Phe) GRCh37: Chr1:78401630 GRCh38: Chr1:77935945	NEXN	L458F, L394F	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 195772751.	NM_144573.4(NEXN):c.490-14A>G GRCh37: Chr1:78392085 GRCh38: Chr1:77926400	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 195253352.	NM_144573.4(NEXN):c.1474-18T>C GRCh37: Chr1:78407690 GRCh38: Chr1:77942005	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (May 1, 2022)	criteria provided, single submitter
Select item 194498353.	NM_144573.4(NEXN):c.789G>A (p.Lys263=) GRCh37: Chr1:78392502 GRCh38: Chr1:77926817	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 194483754.	NM_144573.4(NEXN):c.419A>G (p.Gln140Arg) GRCh37: Chr1:78383930 GRCh38: Chr1:77918245	LOC126805765, NEXN	Q140R, Q76R	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 194190055.	NM_144573.4(NEXN):c.1839T>C (p.Ile613=) GRCh37: Chr1:78408325 GRCh38: Chr1:77942640	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 193015856.	NM_144573.4(NEXN):c.447+11A>T GRCh37: Chr1:78383969 GRCh38: Chr1:77918284	LOC126805765, NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 192495857.	NM_144573.4(NEXN):c.1012G>C (p.Glu338Gln) GRCh37: Chr1:78395148 GRCh38: Chr1:77929463	NEXN	E274Q, E338Q	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 191290458.	NM_144573.4(NEXN):c.47A>C (p.Lys16Thr) GRCh37: Chr1:78383270 GRCh38: Chr1:77917585	NEXN	K16T	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 190993959.	NM_144573.4(NEXN):c.298+9C>T GRCh37: Chr1:78383732 GRCh38: Chr1:77918047	LOC126805765, NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 190363160.	NM_144573.4(NEXN):c.1242A>C (p.Glu414Asp) GRCh37: Chr1:78399155 GRCh38: Chr1:77933470	NEXN	E350D, E414D	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 189927261.	NM_144573.4(NEXN):c.934C>T (p.Leu312Phe) GRCh37: Chr1:78395070 GRCh38: Chr1:77929385	NEXN	L312F, L248F	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 179571462.	NM_144573.4(NEXN):c.1113G>A (p.Pro371=) GRCh37: Chr1:78399026 GRCh38: Chr1:77933341	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jul 21, 2022)	criteria provided, conflicting interpretations
Select item 179189563.	NM_144573.4(NEXN):c.247G>A (p.Glu83Lys) GRCh37: Chr1:78383672 GRCh38: Chr1:77917987	NEXN	E83K, E19K	Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178015364.	NM_144573.4(NEXN):c.1789G>A (p.Glu597Lys) GRCh37: Chr1:78408275 GRCh38: Chr1:77942590	NEXN	E533K, E597K	Cardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177541865.	NM_144573.4(NEXN):c.1568C>T (p.Ala523Val) GRCh37: Chr1:78407802 GRCh38: Chr1:77942117	NEXN	A459V, A523V	Cardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174619066.	NM_144573.4(NEXN):c.522A>C (p.Val174=) GRCh37: Chr1:78392131 GRCh38: Chr1:77926446	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype	Likely benign (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173841467.	NM_144573.4(NEXN):c.416T>C (p.Ile139Thr) GRCh37: Chr1:78383927 GRCh38: Chr1:77918242	LOC126805765, NEXN	I139T, I75T	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 173339068.	NM_144573.4(NEXN):c.362C>T (p.Thr121Met) GRCh37: Chr1:78383873 GRCh38: Chr1:77918188	LOC126805765, NEXN	T57M, T121M	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype	Uncertain significance (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169099269.	NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter) GRCh37: Chr1:78401706 GRCh38: Chr1:77936021	NEXN	R420, R484	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, See cases	Uncertain significance (Sep 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168494770.	NM_144573.4(NEXN):c.1252-1G>A GRCh37: Chr1:78401507 GRCh38: Chr1:77935822	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, not specified	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 167791071.	NM_144573.4(NEXN):c.137del (p.Asn46fs) GRCh37: Chr1:78383358 GRCh38: Chr1:77917673	NEXN	N46fs	not provided, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165408872.	NM_144573.4(NEXN):c.1794A>G (p.Pro598=) GRCh37: Chr1:78408280 GRCh38: Chr1:77942595	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Apr 28, 2021)	criteria provided, single submitter
Select item 164894973.	NM_144573.4(NEXN):c.27+7C>T GRCh37: Chr1:78381825 GRCh38: Chr1:77916140	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 164501374.	NM_144573.4(NEXN):c.1251+10T>C GRCh37: Chr1:78399174 GRCh38: Chr1:77933489	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Oct 3, 2021)	criteria provided, single submitter
Select item 163709775.	NM_144573.4(NEXN):c.1437T>G (p.Leu479=) GRCh37: Chr1:78401693 GRCh38: Chr1:77936008	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Mar 1, 2021)	criteria provided, single submitter
Select item 163242276.	NM_144573.4(NEXN):c.352A>C (p.Arg118=) GRCh37: Chr1:78383863 GRCh38: Chr1:77918178	NEXN, LOC126805765		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Nov 5, 2020)	criteria provided, single submitter
Select item 162972577.	NM_144573.4(NEXN):c.1252-12T>A GRCh37: Chr1:78401496 GRCh38: Chr1:77935811	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 162571178.	NM_144573.4(NEXN):c.220-19_220-16del GRCh37: Chr1:78383623-78383626 GRCh38: Chr1:77917938-77917941	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 161565779.	NM_144573.4(NEXN):c.1179A>C (p.Thr393=) GRCh37: Chr1:78399092 GRCh38: Chr1:77933407	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 160709880.	NM_144573.4(NEXN):c.381C>A (p.Arg127=) GRCh37: Chr1:78383892 GRCh38: Chr1:77918207	LOC126805765, NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Nov 16, 2021)	criteria provided, single submitter
Select item 160600881.	NM_144573.4(NEXN):c.195A>G (p.Arg65=) GRCh37: Chr1:78383418 GRCh38: Chr1:77917733	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Sep 20, 2021)	criteria provided, single submitter
Select item 160518682.	NM_144573.4(NEXN):c.1921T>C (p.Leu641=) GRCh37: Chr1:78408407 GRCh38: Chr1:77942722	NEXN		Cardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Sep 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 158482183.	NM_144573.4(NEXN):c.1899G>A (p.Arg633=) GRCh37: Chr1:78408385 GRCh38: Chr1:77942700	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 158455484.	NM_144573.4(NEXN):c.1252-14_1252-11del GRCh37: Chr1:78401491-78401494 GRCh38: Chr1:77935806-77935809	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 157540585.	NM_144573.4(NEXN):c.373C>A (p.Arg125=) GRCh37: Chr1:78383884 GRCh38: Chr1:77918199	LOC126805765, NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Oct 19, 2021)	criteria provided, single submitter
Select item 156450786.	NM_144573.4(NEXN):c.490-21_490-18del GRCh37: Chr1:78392076-78392079 GRCh38: Chr1:77926391-77926394	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Jun 15, 2021)	criteria provided, single submitter
Select item 155295587.	NM_144573.4(NEXN):c.220-13_220-10del GRCh37: Chr1:78383627-78383630 GRCh38: Chr1:77917942-77917945	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (Mar 10, 2021)	criteria provided, single submitter
Select item 154402888.	NM_144573.4(NEXN):c.1674G>A (p.Glu558=) GRCh37: Chr1:78408160 GRCh38: Chr1:77942475	NEXN		Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Likely benign (May 13, 2021)	criteria provided, single submitter
Select item 151941189.	NM_144573.4(NEXN):c.2021A>C (p.Lys674Thr) GRCh37: Chr1:78408507 GRCh38: Chr1:77942822	NEXN	K674T, K610T	Cardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151271190.	NM_144573.4(NEXN):c.1678G>A (p.Glu560Lys) GRCh37: Chr1:78408164 GRCh38: Chr1:77942479	NEXN	E496K, E560K	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Sep 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151160191.	NM_144573.4(NEXN):c.1957A>G (p.Met653Val) GRCh37: Chr1:78408443 GRCh38: Chr1:77942758	NEXN	M653V, M589V	Cardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150641292.	NM_144573.4(NEXN):c.1412G>A (p.Arg471Gln) GRCh37: Chr1:78401668 GRCh38: Chr1:77935983	NEXN	R471Q, R407Q	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 150275893.	NM_144573.4(NEXN):c.1321G>T (p.Gly441Cys) GRCh37: Chr1:78401577 GRCh38: Chr1:77935892	NEXN	G441C, G377C	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 149585394.	NM_144573.4(NEXN):c.1889A>G (p.Tyr630Cys) GRCh37: Chr1:78408375 GRCh38: Chr1:77942690	NEXN	Y630C, Y566C	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148855795.	NM_144573.4(NEXN):c.1422G>C (p.Arg474Ser) GRCh37: Chr1:78401678 GRCh38: Chr1:77935993	NEXN	R410S, R474S	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 148647696.	NM_144573.4(NEXN):c.790A>C (p.Lys264Gln) GRCh37: Chr1:78392503 GRCh38: Chr1:77926818	NEXN	K264Q, K200Q	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 147690297.	NM_144573.4(NEXN):c.156C>A (p.Asp52Glu) GRCh37: Chr1:78383379 GRCh38: Chr1:77917694	NEXN	D52E	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 147453898.	NM_144573.4(NEXN):c.989A>C (p.Glu330Ala) GRCh37: Chr1:78395125 GRCh38: Chr1:77929440	NEXN	E330A, E266A	Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 146841799.	NM_144573.4(NEXN):c.1589GAA[1] (p.Arg531del) GRCh37: Chr1:78407821-78407823 GRCh38: Chr1:77942136-77942138	NEXN	R467del, R531del	Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 1461682100.	NM_144573.4(NEXN):c.1251+1del GRCh37: Chr1:78399164 GRCh38: Chr1:77933479	NEXN		Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, not provided	Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 4