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Items: 1 to 100 of 5275

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEXN
(S15P)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
NEXN
(V18I)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
NEXN
(K20N)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
NEXN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
NEXN
(R56fs)
Deletion
(frameshift variant +1 more)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
NEXN
(W67*)
Single nucleotide variant
(nonsense +1 more)
Hypertrophic cardiomyopathy 20
+3 more
GConflicting classifications of pathogenicity
NEXN
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+6 more
GConflicting classifications of pathogenicity
NEXN
(V86A +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126805765, NEXN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 20
+3 more
GUncertain significance
LOC126805765, NEXN
(R113G +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126805765, NEXN
(Q50fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GUncertain significance
LOC126805765, NEXN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign
LOC126805765, NEXN
(R125* +1 more)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GUncertain significance
LOC126805765, NEXN
(R127H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC126805765, NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+2 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NEXN
(I171T +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
NEXN
(Y179H +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
(R196C +1 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+6 more
GUncertain significance
NEXN
(E205K +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
NEXN
(D207G +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+3 more
GUncertain significance
NEXN
(M165V +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+4 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
NEXN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
NEXN
(R209fs +1 more)
Deletion
(frameshift variant)
Cardiomyopathy
GUncertain significance
NEXN
(R273H +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
NEXN
(L210S +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
(R279C +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+6 more
GConflicting classifications of pathogenicity
NEXN
(R286W +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
NEXN
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GUncertain significance
NEXN
(D292N +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NEXN
(T298R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
NEXN
(F302L +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
NEXN
(R242C +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
NEXN
(R242H +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
NEXN
(M317L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+5 more
GBenign/Likely benign
NEXN
(E259K +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
NEXN
(E332del +1 more)
Microsatellite
(inframe_deletion)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
NEXN
(E332A +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
NEXN
Single nucleotide variant
(splice donor variant)
not provided
+7 more
GConflicting classifications of pathogenicity
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+4 more
GBenign/Likely benign
NEXN
(P371L +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
NEXN
(R397Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+5 more
GUncertain significance
NEXN
(R412G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
NEXN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 20
+5 more
GBenign/Likely benign
NEXN
(T360N +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
(T424I +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
NEXN
(I391T +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GLikely benign
NEXN
(E470Q +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+4 more
GBenign
NEXN
(R475del +1 more)
Microsatellite
(inframe_deletion)
not provided
+5 more
GConflicting classifications of pathogenicity
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+2 more
GBenign/Likely benign
NEXN
(I477T +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
NEXN
(E485K +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
NEXN
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
NEXN
(V497I +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
NEXN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
NEXN
(F517Y +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
(E528del +1 more)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy 20
+6 more
GUncertain significance
NEXN
Indel
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
(E528Q +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+6 more
GLikely benign
NEXN
(Q529K +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+3 more
GLikely benign
NEXN
(M540V +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
NEXN
(D548N +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+4 more
GConflicting classifications of pathogenicity
NEXN
Deletion
(inframe_indel)
Cardiovascular phenotype
+3 more
GUncertain significance
NEXN
Microsatellite
(inframe_deletion)
not specified
+7 more
GConflicting classifications of pathogenicity
NEXN
(E496Q +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1CC
+2 more
GLikely benign
NEXN
(E510K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
NEXN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
NEXN
(S596R +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
NEXN
(E632Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
NEXN
(L641S +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
NEXN
(G650del +1 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GUncertain significance
NEXN
(Y652C +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+5 more
GConflicting classifications of pathogenicity
NEXN
(G661R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+4 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
NEXN-related disorder
+3 more
GLikely benign
NEXN
(T666A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
NEXN
(S609R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
NEXN
Microsatellite
(3 prime UTR variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
CASQ2
(E399K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CASQ2
(D398del)
Deletion
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
CASQ2
Microsatellite
(inframe_insertion)
not specified
+5 more
GConflicting classifications of pathogenicity
CASQ2
(D383del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
CASQ2
(D379V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GUncertain significance
CASQ2
(D351G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CASQ2, VANGL1
Single nucleotide variant
(intron variant)
Cardiomyopathy
+7 more
GBenign/Likely benign
VANGL1, CASQ2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
CASQ2
(P329S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+4 more
GUncertain significance
CASQ2
(D310N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GConflicting classifications of pathogenicity
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GLikely benign
CASQ2
(E275V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
CASQ2
(R251C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
CASQ2
Duplication
(intron variant)
not provided
+3 more
GBenign
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