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Links from MedGen

Items: 1 to 100 of 361

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEXN
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
LOC126805765, NEXN
(T121K +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Deletion
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Deletion
(intron variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
(E36K)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
LOC126805765, NEXN
(E115D +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(E324K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
NEXN
(P371Q +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
(K362Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely pathogenic
NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
(K489N +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(P175R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
(K298* +1 more)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 20
+1 more
GPathogenic
NEXN
(M653I +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Duplication
(inframe_insertion)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(R437* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1CC
+1 more
GPathogenic
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
(S162fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1CC
+1 more
GPathogenic
NEXN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
(E240fs +1 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1CC
+1 more
GPathogenic
NEXN
(T580fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(E204Q +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(Q465fs +1 more)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(T299I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(P180S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
NEXN
(T92M +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+2 more
GUncertain significance
NEXN
(H445N +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Deletion
(inframe_deletion)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+2 more
GLikely benign
LOC126805765, NEXN
(R105T +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
LOC126805765, NEXN
(K119fs +1 more)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 20
+1 more
GPathogenic
NEXN
(N350S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
(Q623E +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(L254P +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(Q565R +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(K390fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1CC
+1 more
GPathogenic
NEXN
(K610R +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(L458F +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
LOC126805765, NEXN
(Q140R +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
LOC126805765, NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
(E274Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(K16T)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
LOC126805765, NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
(E350D +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(L312F +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+2 more
GConflicting classifications of pathogenicity
NEXN
(E83K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
NEXN
(E533K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
NEXN
(A459V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+2 more
GLikely benign
LOC126805765, NEXN
(I139T +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+2 more
GUncertain significance
LOC126805765, NEXN
(T57M +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+2 more
GUncertain significance
NEXN
(R420* +1 more)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 20
+2 more
GUncertain significance
NEXN
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 20
+2 more
GConflicting classifications of pathogenicity
NEXN
(N46fs)
Deletion
(frameshift variant +1 more)
Hypertrophic cardiomyopathy 20
+2 more
GUncertain significance
NEXN
(R152* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
LOC126805765, NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Deletion
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
LOC126805765, NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+2 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Deletion
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
LOC126805765, NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Deletion
(intron variant)
Hypertrophic cardiomyopathy 20
+1 more
GLikely benign
NEXN
Microsatellite
(intron variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+1 more
GLikely benign
NEXN
(K674T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+2 more
GUncertain significance
NEXN
(E496K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(M653V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
NEXN
(R471Q +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(G441C +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(Y630C +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+2 more
GUncertain significance
NEXN
(R410S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(K264Q +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(D52E)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 20
+1 more
GUncertain significance
NEXN
(E330A +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+1 more
GUncertain significance
NEXN
(R467del +1 more)
Microsatellite
(inframe_deletion)
Dilated cardiomyopathy 1CC
+2 more
GUncertain significance
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