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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAV3, OXTR
(L87P)
Single nucleotide variant
(missense variant)
SUDDEN INFANT DEATH SYNDROME
+2 more
GUncertain significance
GPD1L
(I124V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
SCN5A
(R1826H +5 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 10
+11 more
GUncertain significance
SCN5A
(S1710L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+11 more
GPathogenic/Likely pathogenic
SCN5A
(R1623* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+13 more
GPathogenic
SCN5A
(G1408R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GPathogenic
SCN5A
(R1193Q +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+13 more
GBenign/Likely benign
LOC110121269, SCN5A
(S1103Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary dilated cardiomyopathy
+15 more
GConflicting classifications of pathogenicity
LOC110121269, SCN5A
(A997S)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 10
+10 more
GConflicting classifications of pathogenicity
SCN5A
(F851fs)
Microsatellite
(frameshift variant)
Cardiovascular phenotype
+11 more
GPathogenic
SCN5A
(E655K)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
SCN5A
(N470K)
Single nucleotide variant
(missense variant)
Cardiac arrhythmia
+9 more
GUncertain significance
SCN5A
(H445D)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SCN5A
(E428K)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SCN5A
(G298S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+14 more
GUncertain significance
SCN5A
(R222Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1E
+8 more
GPathogenic
CEP85L, PLN
(R14del)
Microsatellite
(inframe_deletion +1 more)
Primary dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
GABRB3
(R132H +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 43
+3 more
GConflicting classifications of pathogenicity
TNNI3
(R192H)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+6 more
GPathogenic
TNNI3
(R145W)
Single nucleotide variant
(missense variant)
TNNI3-related condition
+4 more
GPathogenic
MT-TL1
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
GBenign
MT-ND1
Single nucleotide variant
Leigh syndrome
GLikely benign
MT-ND1
Single nucleotide variant
not specified
+1 more
GBenign/Likely benign
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