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Links from MedGen

Items: 1 to 100 of 131

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYA4, TARID
(E534fs +3 more)
Microsatellite
(frameshift variant +1 more)
Autosomal dominant nonsyndromic hearing loss 10
GLikely pathogenic
EYA4
(S277fs +4 more)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 10
GPathogenic
EYA4
(T180I +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GUncertain significance
EYA4, TARID
(E436* +4 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 10
GLikely pathogenic
EYA4, TARID
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
+1 more
GLikely benign
EYA4, TARID
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
+1 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
EYA4
(R308Q +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
+3 more
GUncertain significance
EYA4
(P229L +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
+3 more
GUncertain significance
EYA4
(E71D)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
EYA4, TARID
(E614Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GUncertain significance
EYA4
(R298fs +4 more)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 10
GPathogenic
EYA4
(T289fs +4 more)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 10
GPathogenic
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 10
+2 more
GLikely benign
EYA4
(A221V +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
+2 more
GUncertain significance
EYA4
(S331* +4 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 10
GPathogenic
EYA4, TARID
(T543fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GConflicting classifications of pathogenicity
EYA4
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 10
+2 more
GBenign/Likely benign
EYA4
Deletion
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 10
GPathogenic
EYA4
Single nucleotide variant
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 10
GPathogenic
EYA4
(Q268* +2 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 10
GPathogenic
EYA4
(S11L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GUncertain significance
EYA4
(Q104* +2 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 10
GLikely pathogenic
EYA4
(K340R +4 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
+1 more
GConflicting classifications of pathogenicity
EYA4
(G115A +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+2 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EYA4
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GConflicting classifications of pathogenicity
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4
(A233V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
EYA4, TARID
(Y574K +4 more)
Indel
(missense variant)
Autosomal dominant nonsyndromic hearing loss 10
GPathogenic
EYA4
(A300D +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 10
+2 more
GConflicting classifications of pathogenicity
EYA4, TARID
(T399N +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4
(S50C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
+3 more
GUncertain significance
EYA4, TARID
(Y449* +4 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 10
GLikely pathogenic
EYA4, TARID
(R587* +3 more)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1J
+1 more
GPathogenic
EYA4
(P362L +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
EYA4
(T250N +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 10
+1 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
TARID, EYA4
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TARID, EYA4
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GConflicting classifications of pathogenicity
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GConflicting classifications of pathogenicity
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+2 more
GBenign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+2 more
GBenign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GConflicting classifications of pathogenicity
TARID, EYA4
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+2 more
GBenign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+2 more
GBenign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+2 more
GBenign
TARID, EYA4
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GConflicting classifications of pathogenicity
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+2 more
GBenign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GBenign
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+1 more
GUncertain significance
EYA4, TARID
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1J
+2 more
GBenign
EYA4, TARID
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
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