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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN
(S7471F +2 more)
Single nucleotide variant
(missense variant +1 more)
Congestive heart failure
GLikely benign
ACTN2
(M576T +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
ABCC8
(R598Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypoglycemia
+11 more
GLikely pathogenic
VCL
(I497T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
HCN4
(V415M)
Single nucleotide variant
(missense variant)
HCN4-related disorder
+5 more
GConflicting classifications of pathogenicity
EYA4
(A116V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congestive heart failure
+4 more
GConflicting classifications of pathogenicity
ANK2
Single nucleotide variant
(intron variant)
Long QT syndrome
+3 more
GBenign/Likely benign
RYR2
(T3547M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+7 more
GUncertain significance
MYH6
(A1330T)
Single nucleotide variant
(missense variant)
Congestive heart failure
+4 more
GConflicting classifications of pathogenicity
ANK2
(E1471K +43 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKAG2
(P144L +1 more)
Single nucleotide variant
(missense variant)
Congestive heart failure
+8 more
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
Congestive heart failure
+3 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(intron variant)
Tibial muscular dystrophy
+9 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(Q28308P +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P23044S +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+13 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T21008I +5 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GBenign/Likely benign
LOC114827850, MYL2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
CRYAB
(G154S +1 more)
Single nucleotide variant
(missense variant)
Fatal infantile hypertonic myofibrillar myopathy
+10 more
GConflicting classifications of pathogenicity
ABCC8
(V1173M +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
MYL2
Deletion
(intron variant)
Congestive heart failure
+4 more
GBenign
MYL2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
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