"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EYA4"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 410660	NM_004100.5(EYA4):c.83+5A>G	EYA4	Single nucleotide variant (intron 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 +3 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 191659	NM_004100.5(EYA4):c.233C>G (p.Thr78Arg)	EYA4 (T78R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 10 +2 more	GUncertain significance
Select item 1192223	NM_004100.5(EYA4):c.370+16C>T	EYA4	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 10 +2 more	GBenign/Likely benign
Select item 228681	NM_004100.5(EYA4):c.529G>A (p.Val177Ile)	EYA4 (V177I +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +4 more	GUncertain significance
Select item 1418270	NM_004100.5(EYA4):c.686C>T (p.Pro229Leu)	EYA4 (P229L +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +3 more	GUncertain significance
Select item 1315817	NM_004100.5(EYA4):c.824C>T (p.Ala275Val)	EYA4 (A221V +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 44773	NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)	EYA4 (G277S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 847971	NM_004100.5(EYA4):c.860C>T (p.Ala287Val)	EYA4 (A233V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 191663	NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)	EYA4 (F326L +4 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +3 more	GUncertain significance
Select item 1521211	NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln)	EYA4 (R308Q +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +3 more	GUncertain significance
Select item 505845	NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)	EYA4 (P362L +4 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +4 more	GUncertain significance
Select item 657896	NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn)	EYA4, TARID (T399N +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1530955	NM_004100.5(EYA4):c.1494C>T (p.Asn498=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 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 1364830	NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln)	EYA4, TARID (E614Q +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 1667225	NM_004100.5(EYA4):c.1840-16T>G	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 355478	NM_004100.5(EYA4):c.*3267C>A	EYA4, TARID	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance

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Items: 29