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Links from MedGen

Items: 1 to 100 of 3194

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C2orf49, FHL2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
(K94R +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
(K475R)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
Deletion
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
(A129T +4 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
Deletion
(intron variant)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
(S216F +4 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
NEBL
(H145Q +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
Duplication
(intron variant)
Primary dilated cardiomyopathy
GBenign
NEBL
Single nucleotide variant
(intron variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
GLikely benign
C2orf49, FHL2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
NEBL
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
GLikely benign
NEBL
(L211H +6 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(intron variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
(A125T)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
GLikely benign
NEBL
(E176fs)
Duplication
(frameshift variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
GLikely benign
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
NEBL
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
GLikely benign
C2orf49, FHL2
(R91H +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
NEBL
(D216N +6 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
(L286F)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
Deletion
(splice acceptor variant)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
(P214L)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
PDLIM3
(S145N)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(V185L +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Single nucleotide variant
(synonymous variant +2 more)
Primary dilated cardiomyopathy
+1 more
GLikely benign
PDLIM3
(N201S)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(M203T)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(R105Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Deletion
(intron variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(V210A)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(K169E)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(G198fs +3 more)
Deletion
(frameshift variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(R31T)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(P2T)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(G136V +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
LOC126807246, PDLIM3
(E116A +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(A220V +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(I6N)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Single nucleotide variant
(splice acceptor variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
+1 more
GLikely benign
DSP
(K1310*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic right ventricular dysplasia 8
+1 more
GPathogenic
PDLIM3
(F23L)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(H86R)
Single nucleotide variant
(missense variant +2 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Microsatellite
(nonsense +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
+1 more
GLikely benign
PDLIM3
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
+1 more
GLikely benign
PDLIM3
(R202K +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(S106N +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(S107P)
Single nucleotide variant
(missense variant +2 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(T4P)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
LOC126807246, PDLIM3
(N41S +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(M1I)
Single nucleotide variant
(missense variant +2 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Deletion
(inframe_deletion +2 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(K208I +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(I159V)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(K184N)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
(V306A +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
+1 more
GLikely benign
PDLIM3
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
+1 more
GLikely benign
PDLIM3
(A137fs +3 more)
Deletion
(frameshift variant +1 more)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
PDLIM3
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
+1 more
GLikely benign
PDLIM3
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
+1 more
GLikely benign
PDLIM3
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
+1 more
GLikely benign
TXNRD2
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
GLikely benign
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
(I102T +4 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
(P121T +4 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
C2orf49, FHL2
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
GUncertain significance
TXNRD2
Duplication
(intron variant)
Primary dilated cardiomyopathy
GBenign
TXNRD2
(G46S +3 more)
Single nucleotide variant
(missense variant +2 more)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GUncertain significance
C2orf49, FHL2
Single nucleotide variant
(synonymous variant +2 more)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
C2orf49, FHL2
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
GLikely benign
TXNRD2
(D248E +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
GUncertain significance
NEBL
Single nucleotide variant
(intron variant)
Primary dilated cardiomyopathy
GLikely benign
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