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Items: 1 to 100 of 5255

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXE3, LINC01389
(P53L)
Single nucleotide variant
(missense variant)
Congenital primary aphakia
+4 more
GBenign/Likely benign
FOXE3, LINC01389
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
LINC01389, FOXE3
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
FOXE3, LINC01389
(G196A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
FOXE3, LINC01389
(V201M)
Single nucleotide variant
(missense variant)
Congenital primary aphakia
+5 more
GBenign/Likely benign
FOXE3, LINC01389
(P235S)
Single nucleotide variant
(missense variant)
Congenital primary aphakia
+3 more
GUncertain significance
FOXE3, LINC01389
(S300G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
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
(W67*)
Single nucleotide variant
(nonsense +1 more)
Hypertrophic cardiomyopathy 20
+3 more
GConflicting classifications of pathogenicity
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+6 more
GConflicting classifications of pathogenicity
LOC126805765, NEXN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign
LOC126805765, NEXN
(R127H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
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
(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
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+4 more
GUncertain significance
NEXN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
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
(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
(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
(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
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 20
+5 more
GBenign/Likely benign
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
(R475del +1 more)
Microsatellite
(inframe_deletion)
not provided
+5 more
GConflicting classifications of pathogenicity
NEXN
(E485K +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
NEXN
(E528del +1 more)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy 20
+6 more
GUncertain significance
NEXN
(E528Q +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 20
+6 more
GLikely benign
NEXN
(M540V +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
NEXN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 20
+4 more
GConflicting classifications of pathogenicity
NEXN
Microsatellite
(inframe_deletion)
not specified
+7 more
GConflicting classifications of pathogenicity
NEXN
(S596R +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
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
(T666A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 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
(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
Duplication
(intron variant)
not provided
+3 more
GBenign
CASQ2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+2 more
GBenign/Likely benign
CASQ2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GBenign
CASQ2
Deletion
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 2
+3 more
GBenign
CASQ2
Deletion
(intron variant)
not specified
+4 more
GBenign
CASQ2
(H244R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GBenign/Likely benign
CASQ2
(F189L)
Single nucleotide variant
(missense variant)
Sudden unexplained death
+8 more
GConflicting classifications of pathogenicity
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GLikely benign
CASQ2
(E159K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GUncertain significance
CASQ2
(D126H)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CASQ2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
+20 more
GBenign/Likely benign
LMNA, LOC129931597
(S22L)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+14 more
GConflicting classifications of pathogenicity
LMNA
(K117R)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
+17 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
LMNA, LOC126805877
(T150I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
(E161K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
LMNA
(R190Q +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+5 more
GPathogenic/Likely pathogenic
LMNA
(L204V +2 more)
Single nucleotide variant
(missense variant)
not provided
+14 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+17 more
GBenign/Likely benign
LMNA
(Y99C +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LMNA
(R225* +2 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1A
+5 more
GPathogenic
LMNA
(A242V +2 more)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+3 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LMNA
(E317K +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+8 more
GPathogenic/Likely pathogenic
LMNA
(R331Q +2 more)
Single nucleotide variant
(missense variant)
LMNA-related disorder
+7 more
GConflicting classifications of pathogenicity
LMNA
(R335W +2 more)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction
+20 more
GPathogenic/Likely pathogenic
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+2 more
GLikely benign
LMNA
(R401C +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Lethal tight skin contracture syndrome
+16 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+17 more
GConflicting classifications of pathogenicity
LMNA
(G523R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
LMNA
(R545C +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary familial hypertrophic cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LMNA
(R545H +2 more)
Single nucleotide variant
(missense variant +1 more)
Lethal tight skin contracture syndrome
+24 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Primary dilated cardiomyopathy
+6 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LMNA
(R597H +6 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+13 more
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Primary dilated cardiomyopathy
+6 more
GBenign/Likely benign
LMNA
(R644C +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+18 more
GConflicting classifications of pathogenicity
LMNA
(R532H +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2
+5 more
GConflicting classifications of pathogenicity
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