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Links from MedGen

Items: 1 to 100 of 1544

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ1
(P64fs)
Deletion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
(A1017fs +2 more)
Insertion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
Duplication
Congenital long QT syndrome
GLikely pathogenic
KCNH2
(T1019fs +2 more)
Insertion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
Deletion
(splice donor variant)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
Deletion
(nonsense +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
(D556fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
KCNH2
Deletion
(splice donor variant)
Congenital long QT syndrome
GLikely pathogenic
LOC110121269, SCN5A
(R1092fs +1 more)
Deletion
(frameshift variant +2 more)
Congenital long QT syndrome
GLikely pathogenic
KCNQ1
(C34*)
Single nucleotide variant
(nonsense +1 more)
Congenital long QT syndrome
+1 more
GPathogenic/Likely pathogenic
KCNH2
(I267fs +1 more)
Deletion
(frameshift variant)
Congenital long QT syndrome
GPathogenic
KCNQ1
(V307fs +1 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
CALM3
Single nucleotide variant
(intron variant)
Long QT syndrome 1
GUncertain significance
KCNJ2
(L408V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
KCNH2
(P298fs)
Deletion
(frameshift variant)
Congenital long QT syndrome
+1 more
GPathogenic/Likely pathogenic
SCN5A
(S216L)
Single nucleotide variant
(missense variant +1 more)
Congenital long QT syndrome
+1 more
GBenign/Likely benign
KCNH2
(I322fs +1 more)
Deletion
(frameshift variant)
Congenital long QT syndrome
+1 more
GPathogenic/Likely pathogenic
KCNQ1
Single nucleotide variant
(splice donor variant)
Congenital long QT syndrome
GLikely pathogenic
KCNQ1
Single nucleotide variant
(splice acceptor variant)
Congenital long QT syndrome
+1 more
GPathogenic/Likely pathogenic
KCNQ1
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SCN5A
(Y1994* +5 more)
Single nucleotide variant
(nonsense)
Congenital long QT syndrome
+1 more
GUncertain significance
CACNA1C
(N639K +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
KCNQ1
(V254M +7 more)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
GPathogenic
SCN5A
(H558R +1 more)
Single nucleotide variant
(missense variant)
Progressive familial heart block, type 1A
GPathogenic
KCNE1
Single nucleotide variant
Congenital long QT syndrome
+2 more
GLikely benign
AKAP9
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(3 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
(Y3850C +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+1 more
GConflicting classifications of pathogenicity
AKAP9
(K3779Q +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+1 more
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
Congenital long QT syndrome
+3 more
GBenign/Likely benign
AKAP9
(M3743I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
AKAP9
(A3642S +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
(S3634C +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(intron variant)
Congenital long QT syndrome
+4 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
AKAP9
(A3077T +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+1 more
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
(A3057E +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
(T2999A +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
(M2842V +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
Congenital long QT syndrome
+1 more
GConflicting classifications of pathogenicity
AKAP9
(Y2519C +2 more)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
Congenital long QT syndrome
+1 more
GConflicting classifications of pathogenicity
AKAP9
(E2299G +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(synonymous variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
(S2126R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
AKAP9-related disorder
+3 more
GConflicting classifications of pathogenicity
AKAP9
(A1909T +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
(R1908G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
AKAP9
(A1743T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
AKAP9
(E1513del)
Microsatellite
(inframe_deletion)
Long QT syndrome
+3 more
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
AKAP9-related disorder
+3 more
GConflicting classifications of pathogenicity
AKAP9
(G1418D)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+3 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
(M1311K)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+1 more
GConflicting classifications of pathogenicity
AKAP9
(F1292L)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+1 more
GUncertain significance
AKAP9
(E1236D)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
+2 more
GUncertain significance
AKAP9
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
AKAP9
(D1093G)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
(E988D)
Single nucleotide variant
(missense variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(synonymous variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
AKAP9
(K395E)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
AKAP9
Deletion
(intron variant)
Congenital long QT syndrome
+1 more
GUncertain significance
AKAP9
(H53R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
+1 more
GUncertain significance
AKAP9
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
GUncertain significance
AKAP9
Microsatellite
(5 prime UTR variant)
Congenital long QT syndrome
+2 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+7 more
GUncertain significance
CAV3, OXTR
Deletion
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+3 more
GBenign/Likely benign
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+3 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Caveolinopathy
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+4 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Caveolinopathy
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
CAV3, OXTR
(L87F)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Dominant
+2 more
GUncertain significance
SCN5A
Single nucleotide variant
(5 prime UTR variant)
Progressive familial heart block, type 1A
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(5 prime UTR variant)
Congenital long QT syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(intron variant)
Congenital long QT syndrome
+6 more
GUncertain significance
SCN5A
Single nucleotide variant
(synonymous variant +1 more)
Brugada syndrome
+9 more
GConflicting classifications of pathogenicity
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