U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
(S1462I)
Indel
(missense variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+8 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(A1717G +10 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
MHRT, MYH7
(L1428S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GUncertain significance
MYH7
(A100T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SYNE2
(S6877F +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
GUncertain significance
TNNI3
(R192H)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+6 more
GPathogenic
TNNI3
(K174N)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
GPathogenic
TNNI3
(R170W)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
TNNI3
(R145W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GPathogenic
Format
Items per page
Sort by
Choose Destination