ClinVar for MedGen (Select 343105) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24250231.	NC_000006.11:g.(?_133595919)_(133595971_?)dup GRCh37: Chr6:133595919-133595971	EYA4		Dilated cardiomyopathy 1J	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 24250222.	NC_000006.11:g.(?_133782232)_(133783922_?)del GRCh37: Chr6:133782232-133783922	EYA4		Dilated cardiomyopathy 1J	Pathogenic (Nov 5, 2021)	criteria provided, single submitter
Select item 24195653.	NM_004100.5(EYA4):c.262C>A (p.Pro88Thr) GRCh37: Chr6:133769302 GRCh38: Chr6:133448164	EYA4	P88T	Dilated cardiomyopathy 1J	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 24154944.	NM_004100.5(EYA4):c.371-11G>A GRCh37: Chr6:133782241 GRCh38: Chr6:133461103	EYA4		Dilated cardiomyopathy 1J	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 24134225.	NM_004100.5(EYA4):c.1464A>G (p.Val488=) GRCh37: Chr6:133834139 GRCh38: Chr6:133513001	EYA4, TARID		Dilated cardiomyopathy 1J	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 22026326.	NM_004100.5(EYA4):c.1192-14C>T GRCh37: Chr6:133827230 GRCh38: Chr6:133506092	EYA4, LOC126859796, TARID		Dilated cardiomyopathy 1J	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 22023307.	NM_004100.5(EYA4):c.1840-14T>G GRCh37: Chr6:133849849 GRCh38: Chr6:133528711	TARID, EYA4		Dilated cardiomyopathy 1J	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 22005288.	NM_004100.5(EYA4):c.83+21del GRCh37: Chr6:133703599 GRCh38: Chr6:133382461	EYA4		Dilated cardiomyopathy 1J	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 21984159.	NM_004100.5(EYA4):c.824C>A (p.Ala275Asp) GRCh37: Chr6:133789723 GRCh38: Chr6:133468585	EYA4	A252D, A221D, A275D	Dilated cardiomyopathy 1J	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 219543110.	NM_004100.5(EYA4):c.1191+18_1191+20dup GRCh37: Chr6:133804269-133804270 GRCh38: Chr6:133483131-133483132	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jan 10, 2022)	criteria provided, single submitter
Select item 219524711.	NM_004100.5(EYA4):c.333G>A (p.Thr111=) GRCh37: Chr6:133777749 GRCh38: Chr6:133456611	EYA4		Dilated cardiomyopathy 1J	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 219215712.	NM_004100.5(EYA4):c.920C>A (p.Thr307Asn) GRCh37: Chr6:133789819 GRCh38: Chr6:133468681	EYA4	T253N, T284N, T307N	Dilated cardiomyopathy 1J	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 219049913.	NM_004100.5(EYA4):c.1738G>A (p.Gly580Arg) GRCh37: Chr6:133844315 GRCh38: Chr6:133523177	TARID, EYA4	G557R, G580R, G557S, G580S, G526S, G532R, G586R	Dilated cardiomyopathy 1J	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 218832914.	NM_004100.5(EYA4):c.336T>G (p.Thr112=) GRCh37: Chr6:133777752 GRCh38: Chr6:133456614	EYA4		Dilated cardiomyopathy 1J	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 218331615.	NM_004100.5(EYA4):c.764A>G (p.Asn255Ser) GRCh37: Chr6:133785956 GRCh38: Chr6:133464818	EYA4	N232S, N201S, N255S	Dilated cardiomyopathy 1J	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 217619416.	NM_004100.5(EYA4):c.1192-24_1192-20del GRCh37: Chr6:133827220-133827224 GRCh38: Chr6:133506082-133506086	EYA4, LOC126859796, TARID		Dilated cardiomyopathy 1J	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 217604117.	NM_004100.5(EYA4):c.1840-11T>G GRCh37: Chr6:133849852 GRCh38: Chr6:133528714	EYA4, TARID		Dilated cardiomyopathy 1J	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 217591018.	NM_004100.5(EYA4):c.208+10C>T GRCh37: Chr6:133767902 GRCh38: Chr6:133446764	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 217527319.	NM_004100.5(EYA4):c.930T>C (p.Tyr310=) GRCh37: Chr6:133789829 GRCh38: Chr6:133468691	EYA4		Dilated cardiomyopathy 1J	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 217121720.	NM_004100.5(EYA4):c.1801A>G (p.Ile601Val) GRCh37: Chr6:133846354 GRCh38: Chr6:133525216	TARID, EYA4	I553V, I607V, I578V, I601V	Dilated cardiomyopathy 1J	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 217107621.	NM_004100.5(EYA4):c.235G>A (p.Ala79Thr) GRCh37: Chr6:133769275 GRCh38: Chr6:133448137	EYA4	A79T	Dilated cardiomyopathy 1J	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216820422.	NM_004100.5(EYA4):c.690G>C (p.Gln230His) GRCh37: Chr6:133783868 GRCh38: Chr6:133462730	EYA4	Q207H, Q176H, Q230H	Dilated cardiomyopathy 1J	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 216591623.	NM_004100.5(EYA4):c.437+14A>G GRCh37: Chr6:133782332 GRCh38: Chr6:133461194	EYA4		Dilated cardiomyopathy 1J	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 216476924.	NM_004100.5(EYA4):c.1191+6_1191+8del GRCh37: Chr6:133804259-133804261 GRCh38: Chr6:133483121-133483123	EYA4		Dilated cardiomyopathy 1J	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 216476825.	NM_004100.5(EYA4):c.1191+4_1191+5insT GRCh37: Chr6:133804257-133804258 GRCh38: Chr6:133483119-133483120	EYA4		Dilated cardiomyopathy 1J	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 215798926.	NM_004100.5(EYA4):c.511G>C (p.Gly171Arg) GRCh37: Chr6:133783546 GRCh38: Chr6:133462408	EYA4	G148R, G171R, G117R	Dilated cardiomyopathy 1J	Pathogenic (Sep 25, 2022)	criteria provided, single submitter
Select item 215590127.	NM_004100.5(EYA4):c.84-9C>G GRCh37: Chr6:133767759 GRCh38: Chr6:133446621	EYA4		Dilated cardiomyopathy 1J	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 215394928.	NM_004100.5(EYA4):c.277+10A>G GRCh37: Chr6:133769327 GRCh38: Chr6:133448189	EYA4		Dilated cardiomyopathy 1J	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 215244229.	NM_004100.5(EYA4):c.865A>C (p.Thr289Pro) GRCh37: Chr6:133789764 GRCh38: Chr6:133468626	EYA4	T235P, T266P, T289P	Dilated cardiomyopathy 1J	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 215047430.	NM_004100.5(EYA4):c.370+17G>C GRCh37: Chr6:133777803 GRCh38: Chr6:133456665	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 214969631.	NM_004100.5(EYA4):c.1625G>A (p.Cys542Tyr) GRCh37: Chr6:133844202 GRCh38: Chr6:133523064	EYA4, TARID	C548Y, C488Y, C494Y, C519Y, C542Y	Dilated cardiomyopathy 1J	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 214795032.	NM_004100.5(EYA4):c.740C>G (p.Pro247Arg) GRCh37: Chr6:133785932 GRCh38: Chr6:133464794	EYA4	P224R, P247R, P193R	Dilated cardiomyopathy 1J	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 214265233.	NM_004100.5(EYA4):c.1340+20A>G GRCh37: Chr6:133833937 GRCh38: Chr6:133512799	TARID, EYA4		Dilated cardiomyopathy 1J	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 214233034.	NM_004100.5(EYA4):c.1840-13_1840-11del GRCh37: Chr6:133849848-133849850 GRCh38: Chr6:133528710-133528712	TARID, EYA4		Dilated cardiomyopathy 1J	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 214216935.	NM_004100.5(EYA4):c.1520A>C (p.Lys507Thr) GRCh37: Chr6:133836477 GRCh38: Chr6:133515339	TARID, EYA4	K459T, K484T, K513T, K453T, K507T	Dilated cardiomyopathy 1J	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 214214036.	NM_004100.5(EYA4):c.923C>G (p.Ser308Cys) GRCh37: Chr6:133789822 GRCh38: Chr6:133468684	EYA4	S308C, S254C, S285C	Dilated cardiomyopathy 1J	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 214058237.	NM_004100.5(EYA4):c.578A>G (p.Tyr193Cys) GRCh37: Chr6:133783613 GRCh38: Chr6:133462475	EYA4	Y139C, Y193C, Y170C	Dilated cardiomyopathy 1J	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 213193538.	NM_004100.5(EYA4):c.1330C>A (p.Gln444Lys) GRCh37: Chr6:133833907 GRCh38: Chr6:133512769	EYA4, TARID	Q421K, Q450K, Q390K, Q396K, Q444K	Dilated cardiomyopathy 1J	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 212961439.	NM_004100.5(EYA4):c.1808A>C (p.Asp603Ala) GRCh37: Chr6:133846361 GRCh38: Chr6:133525223	EYA4, TARID	D609A, D555A, D580A, D603A	Dilated cardiomyopathy 1J	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 212661440.	NM_004100.5(EYA4):c.1385G>T (p.Ser462Ile) GRCh37: Chr6:133834060 GRCh38: Chr6:133512922	EYA4, TARID	S462I, S439I, S414I, S408I, S468I	Dilated cardiomyopathy 1J	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212613741.	NM_004100.5(EYA4):c.1472del (p.Leu491fs) GRCh37: Chr6:133834146 GRCh38: Chr6:133513008	EYA4, TARID	L497fs, L437fs, L491fs, L443fs, L468fs	Dilated cardiomyopathy 1J	Pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 212402542.	NM_004100.5(EYA4):c.1439A>T (p.Lys480Met) GRCh37: Chr6:133834114 GRCh38: Chr6:133512976	TARID, EYA4	K426M, K480M, K486M, K457M, K432M	Dilated cardiomyopathy 1J	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 212374243.	NM_004100.5(EYA4):c.1107+11T>C GRCh37: Chr6:133802748 GRCh38: Chr6:133481610	EYA4		Dilated cardiomyopathy 1J	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 212103044.	NM_004100.5(EYA4):c.1316C>T (p.Ser439Phe) GRCh37: Chr6:133833893 GRCh38: Chr6:133512755	EYA4, TARID	S385F, S416F, S445F, S439F, S391F	Dilated cardiomyopathy 1J	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 211935345.	NM_004100.5(EYA4):c.695G>T (p.Gly232Val) GRCh37: Chr6:133783873 GRCh38: Chr6:133462735	EYA4	G178V, G232V, G209V	Dilated cardiomyopathy 1J	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211668446.	NM_004100.5(EYA4):c.304C>G (p.Pro102Ala) GRCh37: Chr6:133777720 GRCh38: Chr6:133456582	EYA4	P102A, P79A	Dilated cardiomyopathy 1J	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211231947.	NM_004100.5(EYA4):c.1574G>A (p.Trp525Ter) GRCh37: Chr6:133836531 GRCh38: Chr6:133515393	EYA4, TARID	W471, W477, W525, W531, W502*	Dilated cardiomyopathy 1J	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 211093948.	NM_004100.5(EYA4):c.1747A>G (p.Ser583Gly) GRCh37: Chr6:133846300 GRCh38: Chr6:133525162	TARID, EYA4	S560G, S589G, S535G, S583G	Dilated cardiomyopathy 1J	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210268849.	NM_004100.5(EYA4):c.1291C>T (p.Gln431Ter) GRCh37: Chr6:133833868 GRCh38: Chr6:133512730	TARID, EYA4	Q377, Q383, Q408, Q431, Q437*	Dilated cardiomyopathy 1J	Pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 210151950.	NM_004100.5(EYA4):c.371-2A>G GRCh37: Chr6:133782250 GRCh38: Chr6:133461112	EYA4		Dilated cardiomyopathy 1J	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 209447251.	NM_004100.5(EYA4):c.963C>A (p.Asn321Lys) GRCh37: Chr6:133789862 GRCh38: Chr6:133468724	EYA4	N298K, N321K, N267K	Dilated cardiomyopathy 1J	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 209375752.	NM_004100.5(EYA4):c.98A>C (p.Gln33Pro) GRCh37: Chr6:133767782 GRCh38: Chr6:133446644	EYA4	Q33P	Dilated cardiomyopathy 1J, Cardiovascular phenotype	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 209160153.	NM_004100.5(EYA4):c.701C>T (p.Thr234Ile) GRCh37: Chr6:133783879 GRCh38: Chr6:133462741	EYA4	T180I, T234I, T211I	Dilated cardiomyopathy 1J	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 209158554.	NM_004100.5(EYA4):c.985A>T (p.Met329Leu) GRCh37: Chr6:133802615 GRCh38: Chr6:133481477	EYA4	M275L, M335L, M281L, M306L, M329L	Dilated cardiomyopathy 1J	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209066755.	NM_004100.5(EYA4):c.141T>G (p.Thr47=) GRCh37: Chr6:133767825 GRCh38: Chr6:133446687	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 208977856.	NM_004100.5(EYA4):c.342T>C (p.Asp114=) GRCh37: Chr6:133777758 GRCh38: Chr6:133456620	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208947857.	NM_004100.5(EYA4):c.970+12C>T GRCh37: Chr6:133789881 GRCh38: Chr6:133468743	EYA4	H274Y, H328Y	Dilated cardiomyopathy 1J	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 208581258.	NM_004100.5(EYA4):c.370+17G>A GRCh37: Chr6:133777803 GRCh38: Chr6:133456665	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 208462559.	NM_004100.5(EYA4):c.261C>T (p.Thr87=) GRCh37: Chr6:133769301 GRCh38: Chr6:133448163	EYA4		Dilated cardiomyopathy 1J	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 208424460.	NM_004100.5(EYA4):c.1192-20T>C GRCh37: Chr6:133827224 GRCh38: Chr6:133506086	EYA4, LOC126859796, TARID		Dilated cardiomyopathy 1J	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208334561.	NM_004100.5(EYA4):c.587G>C (p.Gly196Ala) GRCh37: Chr6:133783765 GRCh38: Chr6:133462627	EYA4	G142A, G196A, G173A	Dilated cardiomyopathy 1J	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 208304262.	NM_004100.5(EYA4):c.1502-12T>C GRCh37: Chr6:133836447 GRCh38: Chr6:133515309	EYA4, TARID		Dilated cardiomyopathy 1J	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208100963.	NM_004100.5(EYA4):c.1516G>A (p.Ala506Thr) GRCh37: Chr6:133836473 GRCh38: Chr6:133515335	EYA4, TARID	A483T, A452T, A512T, A458T, A506T	Dilated cardiomyopathy 1J	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 207987564.	NM_004100.5(EYA4):c.1086G>A (p.Pro362=) GRCh37: Chr6:133802716 GRCh38: Chr6:133481578	EYA4		Dilated cardiomyopathy 1J	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 207936065.	NM_004100.5(EYA4):c.438-17A>G GRCh37: Chr6:133783456 GRCh38: Chr6:133462318	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207603966.	NM_004100.5(EYA4):c.363T>C (p.Thr121=) GRCh37: Chr6:133777779 GRCh38: Chr6:133456641	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 207380967.	NM_004100.5(EYA4):c.970+6del GRCh37: Chr6:133789875 GRCh38: Chr6:133468737	EYA4	D272fs, D326fs	Dilated cardiomyopathy 1J	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 206963868.	NM_004100.5(EYA4):c.583T>C (p.Leu195=) GRCh37: Chr6:133783761 GRCh38: Chr6:133462623	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 206936169.	NM_004100.5(EYA4):c.1496T>G (p.Val499Gly) GRCh37: Chr6:133834171 GRCh38: Chr6:133513033	EYA4, TARID	V451G, V476G, V499G, V445G, V505G	Dilated cardiomyopathy 1J, Cardiovascular phenotype	Uncertain significance (Dec 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206901870.	NM_004100.5(EYA4):c.1415G>A (p.Arg472Lys) GRCh37: Chr6:133834090 GRCh38: Chr6:133512952	TARID, EYA4	R478K, R418K, R424K, R472K, R449K	Dilated cardiomyopathy 1J	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 206896171.	NM_004100.5(EYA4):c.872G>A (p.Gly291Glu) GRCh37: Chr6:133789771 GRCh38: Chr6:133468633	EYA4	G291E, G268E, G237E	Dilated cardiomyopathy 1J	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 206794872.	NM_004100.5(EYA4):c.1029C>T (p.Thr343=) GRCh37: Chr6:133802659 GRCh38: Chr6:133481521	EYA4		Dilated cardiomyopathy 1J	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 206324173.	NM_004100.5(EYA4):c.652G>T (p.Gly218Cys) GRCh37: Chr6:133783830 GRCh38: Chr6:133462692	EYA4	G164C, G195C, G218C	Dilated cardiomyopathy 1J	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 206307374.	NM_004100.5(EYA4):c.1107+16C>A GRCh37: Chr6:133802753 GRCh38: Chr6:133481615	EYA4		Dilated cardiomyopathy 1J	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 205507175.	NM_004100.5(EYA4):c.1343C>T (p.Thr448Ile) GRCh37: Chr6:133834018 GRCh38: Chr6:133512880	EYA4, TARID	T400I, T394I, T425I, T448I, T454I	Dilated cardiomyopathy 1J	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 204870976.	NM_004100.5(EYA4):c.706T>C (p.Tyr236His) GRCh37: Chr6:133783884 GRCh38: Chr6:133462746	EYA4	Y182H, Y213H, Y236H	Dilated cardiomyopathy 1J	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 204715477.	NM_004100.5(EYA4):c.1341-16A>T GRCh37: Chr6:133834000 GRCh38: Chr6:133512862	EYA4, TARID		Dilated cardiomyopathy 1J	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 204531978.	NM_004100.5(EYA4):c.263C>T (p.Pro88Leu) GRCh37: Chr6:133769303 GRCh38: Chr6:133448165	EYA4	P88L	Dilated cardiomyopathy 1J	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 204478179.	NM_004100.5(EYA4):c.984C>A (p.Thr328=) GRCh37: Chr6:133802614 GRCh38: Chr6:133481476	EYA4		Dilated cardiomyopathy 1J	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 204318980.	NM_004100.5(EYA4):c.1165G>A (p.Gly389Arg) GRCh37: Chr6:133804227 GRCh38: Chr6:133483089	EYA4	G366R, G335R, G341R, G389R, G395R	Inborn genetic diseases, Dilated cardiomyopathy 1J	Uncertain significance (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204237781.	NM_004100.5(EYA4):c.1627A>T (p.Ile543Leu) GRCh37: Chr6:133844204 GRCh38: Chr6:133523066	EYA4, TARID	I549L, I495L, I489L, I520L, I543L	Dilated cardiomyopathy 1J	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 204184682.	NM_004100.5(EYA4):c.893A>C (p.Asn298Thr) GRCh37: Chr6:133789792 GRCh38: Chr6:133468654	EYA4	N298T, N244T, N275T	Dilated cardiomyopathy 1J	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 203762983.	NM_004100.5(EYA4):c.38A>G (p.Lys13Arg) GRCh37: Chr6:133703534 GRCh38: Chr6:133382396	EYA4	K13R	Dilated cardiomyopathy 1J	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 202028584.	NM_004100.5(EYA4):c.1739-20T>G GRCh37: Chr6:133846272 GRCh38: Chr6:133525134	EYA4, TARID		Dilated cardiomyopathy 1J	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 201497285.	NM_004100.5(EYA4):c.370+1G>T GRCh37: Chr6:133777787 GRCh38: Chr6:133456649	EYA4		Dilated cardiomyopathy 1J	Likely pathogenic (Jul 8, 2022)	criteria provided, single submitter
Select item 201245486.	NM_004100.5(EYA4):c.1779C>G (p.Gly593=) GRCh37: Chr6:133846332 GRCh38: Chr6:133525194	EYA4, TARID		Dilated cardiomyopathy 1J	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 200770087.	NM_004100.5(EYA4):c.278-18A>C GRCh37: Chr6:133777676 GRCh38: Chr6:133456538	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 200634988.	NM_004100.5(EYA4):c.1528G>T (p.Ala510Ser) GRCh37: Chr6:133836485 GRCh38: Chr6:133515347	TARID, EYA4	A456S, A462S, A516S, A487S, A510S	Dilated cardiomyopathy 1J	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200565189.	NM_004100.5(EYA4):c.1245T>C (p.Asn415=) GRCh37: Chr6:133827297 GRCh38: Chr6:133506159	EYA4, LOC126859796, TARID		Dilated cardiomyopathy 1J	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200432590.	NM_004100.5(EYA4):c.1739-14_1739-6del GRCh37: Chr6:133846271-133846279 GRCh38: Chr6:133525133-133525141	TARID, EYA4		Dilated cardiomyopathy 1J	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 200432291.	NM_004100.5(EYA4):c.1390A>G (p.Asn464Asp) GRCh37: Chr6:133834065 GRCh38: Chr6:133512927	TARID, EYA4	N470D, N416D, N410D, N464D, N441D	Dilated cardiomyopathy 1J	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 200275192.	NM_004100.5(EYA4):c.83+20A>G GRCh37: Chr6:133703599 GRCh38: Chr6:133382461	EYA4		Dilated cardiomyopathy 1J	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 199729393.	NM_004100.5(EYA4):c.1249G>T (p.Ala417Ser) GRCh37: Chr6:133827301 GRCh38: Chr6:133506163	EYA4, LOC126859796, TARID	A369S, A394S, A423S, A363S, A417S	Dilated cardiomyopathy 1J	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 199524894.	NM_004100.5(EYA4):c.580+4T>C GRCh37: Chr6:133783619 GRCh38: Chr6:133462481	EYA4		Dilated cardiomyopathy 1J	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199518595.	NM_004100.5(EYA4):c.89T>G (p.Met30Arg) GRCh37: Chr6:133767773 GRCh38: Chr6:133446635	EYA4	M30R	Dilated cardiomyopathy 1J	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 198326896.	NM_004100.5(EYA4):c.1108-19dup GRCh37: Chr6:133804150-133804151 GRCh38: Chr6:133483012-133483013	EYA4		Dilated cardiomyopathy 1J	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 197553297.	NM_004100.5(EYA4):c.437+3A>G GRCh37: Chr6:133782321 GRCh38: Chr6:133461183	EYA4		Dilated cardiomyopathy 1J	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 197485698.	NM_004100.5(EYA4):c.565A>G (p.Ser189Gly) GRCh37: Chr6:133783600 GRCh38: Chr6:133462462	EYA4	S166G, S189G, S135G	Dilated cardiomyopathy 1J	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 196748599.	NM_004100.5(EYA4):c.488A>G (p.Tyr163Cys) GRCh37: Chr6:133783523 GRCh38: Chr6:133462385	EYA4	Y163C, Y109C, Y140C	Dilated cardiomyopathy 1J	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 1965243100.	NM_004100.5(EYA4):c.242G>A (p.Trp81Ter) GRCh37: Chr6:133769282 GRCh38: Chr6:133448144	EYA4	W81*	Dilated cardiomyopathy 1J	Pathogenic (Dec 23, 2021)	criteria provided, single submitter

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