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Items: 1 to 100 of 4170

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXE3, LINC01389
Single nucleotide variant
(synonymous variant)
FOXE3-related disorder
+6 more
GBenign/Likely benign
FOXE3, LINC01389
Single nucleotide variant
(synonymous variant)
Congenital primary aphakia
+7 more
GBenign
FOXE3, LINC01389
(G196A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
FOXE3, LINC01389
(V201M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
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
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LOC126805765, NEXN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 20
+3 more
GUncertain significance
LOC126805765, NEXN
(Q50fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GUncertain significance
LOC126805765, NEXN
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
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
Single nucleotide variant
(synonymous variant)
NEXN-related disorder
+5 more
GBenign/Likely benign
NEXN
(R279C +1 more)
Single nucleotide variant
(missense variant)
NEXN-related disorder
+6 more
GConflicting classifications of pathogenicity
NEXN
(T298R +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
NEXN
(M317L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+5 more
GBenign/Likely benign
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)
Cardiomyopathy
+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)
Cardiomyopathy
+5 more
GBenign/Likely benign
NEXN
Single nucleotide variant
(synonymous variant)
NEXN-related disorder
+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
(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)
not provided
+6 more
GLikely benign
NEXN
(M540V +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
NEXN
Microsatellite
(inframe_deletion)
not provided
+7 more
GConflicting classifications of pathogenicity
NEXN
(S596R +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
NEXN
(G650del +1 more)
Microsatellite
(inframe_deletion)
Dilated cardiomyopathy 1CC
+5 more
GUncertain significance
NEXN
(G661R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1CC
+4 more
GUncertain significance
NEXN
(T666A +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
CASQ2
(D398del)
Deletion
Primary dilated 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, VANGL1
Single nucleotide variant
(intron variant)
not provided
+7 more
GBenign/Likely benign
CASQ2, VANGL1
Single nucleotide variant
(synonymous variant)
Neural tube defect
+8 more
GBenign/Likely benign
CASQ2
(D310N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
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)
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)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
CASQ2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
CASQ2
(D126H)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CASQ2
(V76M)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GBenign/Likely benign
CASQ2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+16 more
GBenign/Likely benign
LMNA, LOC129931597
Single nucleotide variant
(synonymous variant)
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
+20 more
GBenign/Likely benign
LMNA
(R60C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LMNA
(K117R)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+14 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
Hutchinson-Gilford syndrome
+17 more
GConflicting classifications of pathogenicity
LMNA, LOC126805877
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
LMNA, LOC126805877
(T150I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+17 more
GBenign/Likely benign
LMNA
(Y99C +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LMNA
(I229T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
LMNA
(E317K +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GPathogenic/Likely pathogenic
LMNA
Single nucleotide variant
(synonymous variant)
LMNA-related disorder
+6 more
GConflicting classifications of pathogenicity
LMNA
(Q408P +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LMNA
Single nucleotide variant
(synonymous variant)
Lethal tight skin contracture syndrome
+16 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
not specified
+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)
Cardiovascular phenotype
+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)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+6 more
GBenign/Likely benign
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LMNA
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease
+6 more
GBenign/Likely benign
LMNA
(R644C +6 more)
Single nucleotide variant
(missense variant +1 more)
LMNA-related disorder
+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
TNNT2
(R286H +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1D
+6 more
GLikely benign
TNNT2
(R278P +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+6 more
GConflicting classifications of pathogenicity
TNNT2
(R278C +5 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNT2
(N268I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1D
+7 more
GConflicting classifications of pathogenicity
TNNT2
(K258I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TNNT2
(E244D +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
+8 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1D
+5 more
GConflicting classifications of pathogenicity
TNNT2
(V218L +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TNNT2
Indel
not specified
GUncertain significance
TNNT2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GBenign/Likely benign
TNNT2
(R159Q +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TNNT2
(R144W +3 more)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
TNNT2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
TNNT2
(R139C +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
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