ClinVar for MedGen (Select 321966) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445629	NM_004100.5(EYA4):c.992dup (p.Ser331fs)	EYA4 (S277fs +4 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 10	GPathogenic
Select item 1687435	NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter)	EYA4, TARID (E436* +4 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 10	GLikely pathogenic
Select item 1667225	NM_004100.5(EYA4):c.1840-16T>G	EYA4, TARID	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GLikely benign
Select item 1600579	NM_004100.5(EYA4):c.1617-13C>G	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 1530955	NM_004100.5(EYA4):c.1494C>T (p.Asn498=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J +2 more	GLikely benign
Select item 1521211	NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln)	EYA4 (R308Q +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 1418270	NM_004100.5(EYA4):c.686C>T (p.Pro229Leu)	EYA4 (P229L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1372072	NM_004100.5(EYA4):c.213A>C (p.Glu71Asp)	EYA4 (E71D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1364830	NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln)	EYA4, TARID (E614Q +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1322854	NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs)	EYA4 (R298fs +4 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 10	GPathogenic
Select item 1322847	NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs)	EYA4 (T289fs +4 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 10	GPathogenic
Select item 1321546	NM_004100.5(EYA4):c.*2799C>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 10 +2 more	GLikely benign
Select item 1315817	NM_004100.5(EYA4):c.824C>T (p.Ala275Val)	EYA4 (A221V +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +2 more	GUncertain significance
Select item 1210331	NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter)	EYA4 (S331* +4 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 10	GPathogenic
Select item 1192223	NM_004100.5(EYA4):c.370+16C>T	EYA4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1185652	NM_004100.5(EYA4):c.804+2del	EYA4	Deletion (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 10	GPathogenic
Select item 1185629	NM_004100.5(EYA4):c.804+2T>A	EYA4	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 10	GPathogenic
Select item 1185054	NM_004100.5(EYA4):c.964C>T (p.Gln322Ter)	EYA4 (Q268* +2 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 10	GPathogenic
Select item 1022045	NM_004100.5(EYA4):c.32C>T (p.Ser11Leu)	EYA4 (S11L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 982918	NM_004100.5(EYA4):c.472C>T (p.Gln158Ter)	EYA4 (Q104* +2 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 10	GLikely pathogenic
Select item 908033	NM_004100.5(EYA4):c.1181A>G (p.Lys394Arg)	EYA4 (K340R +4 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 908032	NM_004100.5(EYA4):c.1107+13A>C	EYA4	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GConflicting classifications of pathogenicity
Select item 907949	NM_004100.5(EYA4):c.344G>C (p.Gly115Ala)	EYA4 (G115A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 907225	NM_004100.5(EYA4):c.*3226A>C	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 907224	NM_004100.5(EYA4):c.*3211T>G	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 907223	NM_004100.5(EYA4):c.*3160C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 907096	NM_004100.5(EYA4):c.*1600G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 907041	NM_004100.5(EYA4):c.*633G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 907040	NM_004100.5(EYA4):c.*566G>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 906975	NM_004100.5(EYA4):c.-244C>G	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 906226	NM_004100.5(EYA4):c.*3132C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 906225	NM_004100.5(EYA4):c.*3121A>G	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 906091	NM_004100.5(EYA4):c.*1551G>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 906090	NM_004100.5(EYA4):c.*1532G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 906089	NM_004100.5(EYA4):c.*1484C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 906024	NM_004100.5(EYA4):c.*379C>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 906023	NM_004100.5(EYA4):c.*347T>C	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 906022	NM_004100.5(EYA4):c.*308G>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 905715	NM_004100.5(EYA4):c.*2918G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 905714	NM_004100.5(EYA4):c.*2685T>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 905649	NM_004100.5(EYA4):c.*2049T>C	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 905648	NM_004100.5(EYA4):c.*2044A>G	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 905647	NM_004100.5(EYA4):c.*1943C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 905584	NM_004100.5(EYA4):c.*1440C>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 905583	NM_004100.5(EYA4):c.*1363G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 905515	NM_004100.5(EYA4):c.*265G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 905514	NM_004100.5(EYA4):c.*222G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 905513	NM_004100.5(EYA4):c.*15C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 905364	NM_004100.5(EYA4):c.-326C>G	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 904794	NM_004100.5(EYA4):c.*1346C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 904793	NM_004100.5(EYA4):c.*756A>G	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 904792	NM_004100.5(EYA4):c.*732A>G	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 904645	NM_004100.5(EYA4):c.438-15T>C	EYA4	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 904577	NM_004100.5(EYA4):c.-445C>T	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 903810	NM_004100.5(EYA4):c.*2439G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 903809	NM_004100.5(EYA4):c.*2377C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 903730	NM_004100.5(EYA4):c.*1820A>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GConflicting classifications of pathogenicity
Select item 903729	NM_004100.5(EYA4):c.*1770T>C	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 847971	NM_004100.5(EYA4):c.860C>T (p.Ala287Val)	EYA4 (A233V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 813822	NM_004100.5(EYA4):c.1720_1722delTACinsAAA	EYA4, TARID (Y574K +4 more)	Indel (missense variant)	Autosomal dominant nonsyndromic hearing loss 10	GPathogenic
Select item 702485	NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)	EYA4 (A300D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 657896	NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn)	TARID, EYA4 (T399N +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 647739	NM_004100.5(EYA4):c.148A>T (p.Ser50Cys)	EYA4 (S50C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 623134	NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)	EYA4, TARID (Y449* +4 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 10	GLikely pathogenic
Select item 523780	NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)	EYA4, TARID (R587* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 505845	NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)	EYA4 (P362L +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 410661	NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)	EYA4 (T250N +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 410660	NM_004100.5(EYA4):c.83+5A>G	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355478	NM_004100.5(EYA4):c.*3267C>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355477	NM_004100.5(EYA4):c.*3014T>C	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GBenign/Likely benign
Select item 355476	NM_004100.5(EYA4):c.*2968T>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GBenign/Likely benign
Select item 355475	NM_004100.5(EYA4):c.*2759G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355474	NM_004100.5(EYA4):c.*2750C>A	TARID, EYA4	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355473	NM_004100.5(EYA4):c.*2660T>C	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355472	NM_004100.5(EYA4):c.*2588C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 10 +2 more	GConflicting classifications of pathogenicity
Select item 355471	NM_004100.5(EYA4):c.*2511G>A	TARID, EYA4	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355469	NM_004100.5(EYA4):c.*2360G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355468	NM_004100.5(EYA4):c.*2359C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GConflicting classifications of pathogenicity
Select item 355467	NM_004100.5(EYA4):c.*2302G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +2 more	GBenign/Likely benign
Select item 355466	NM_004100.5(EYA4):c.*2269C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355465	NM_004100.5(EYA4):c.*2188T>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GConflicting classifications of pathogenicity
Select item 355464	NM_004100.5(EYA4):c.*2184A>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +2 more	GBenign
Select item 355463	NM_004100.5(EYA4):c.*2108A>G	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +2 more	GBenign
Select item 355462	NM_004100.5(EYA4):c.*2010A>G	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355461	NM_004100.5(EYA4):c.*1905T>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GConflicting classifications of pathogenicity
Select item 355460	NM_004100.5(EYA4):c.*1867C>T	TARID, EYA4	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +2 more	GBenign
Select item 355459	NM_004100.5(EYA4):c.*1812G>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355458	NM_004100.5(EYA4):c.*1744G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355457	NM_004100.5(EYA4):c.*1658C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +2 more	GBenign
Select item 355456	NM_004100.5(EYA4):c.*1513T>C	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355455	NM_004100.5(EYA4):c.*1434A>G	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +2 more	GBenign
Select item 355454	NM_004100.5(EYA4):c.*1350G>A	TARID, EYA4	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GConflicting classifications of pathogenicity
Select item 355453	NM_004100.5(EYA4):c.*1264T>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +2 more	GBenign
Select item 355450	NM_004100.5(EYA4):c.*726C>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign
Select item 355449	NM_004100.5(EYA4):c.*333G>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355448	NM_004100.5(EYA4):c.*23C>T	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +2 more	GBenign
Select item 355447	NM_004100.5(EYA4):c.1338A>G (p.Leu446=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J +2 more	GConflicting classifications of pathogenicity
Select item 355446	NM_004100.5(EYA4):c.1107+10C>G	EYA4	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 355445	NM_004100.5(EYA4):c.970+5A>G	EYA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 355444	NM_004100.5(EYA4):c.888G>A (p.Ser296=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity

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