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Links from MedGen

Items: 1 to 100 of 722

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYA4, TARID
(L458F +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
(I522V +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
(A456T +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
(G570A +3 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(I601T +3 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
(M541T +3 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
TARID, EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, LOC126859796
+1 more
(N401S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(E428D +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, LOC126859796
+1 more
(M378T +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(L41I)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(N8K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(D346E +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(P284L +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(E271A +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(C536G +3 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Insertion
(inframe_insertion)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Deletion
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(R308W +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(G219S +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(splice donor variant +1 more)
Dilated cardiomyopathy 1J
GLikely pathogenic
EYA4
(S315T +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(A238G +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
(S480T +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(G301D +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(D386H +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
Deletion
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(S37N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(L273P +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(D46H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(H39R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(Y256F +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(G545fs +3 more)
Duplication
(frameshift variant +1 more)
Dilated cardiomyopathy 1J
GPathogenic
EYA4
(T74S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
(V600I +3 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(S204F +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(G479fs +4 more)
Microsatellite
(frameshift variant)
Dilated cardiomyopathy 1J
GPathogenic
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(C561R +3 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
(A587E +3 more)
Indel
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(K52R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(I516T +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(T15R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
TARID, EYA4
(K441N +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(Y170* +2 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1J
GPathogenic
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(G165S +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
(Y401C +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(Q590R +3 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(L588* +4 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(P109T +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4
(Q268H +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(N8S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(A97G +1 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
EYA4, TARID
(T527A +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(T241I +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(M73K)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4
(E71*)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1J
GPathogenic
EYA4, TARID
(M424L +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1J
GUncertain significance
EYA4, TARID
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1J
GLikely benign
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