U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806425, TTN
+1 more
(F17754L +5 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(L16094P +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806425, TTN
+1 more
(V15155A +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely benign
LOC126806425, TTN
+1 more
(K8643V +5 more)
Indel
(missense variant)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(K15140E +5 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(R17699H +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+10 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(M15117I +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign/Likely benign
LOC126806425, TTN
+1 more
(Y15061C +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806425, TTN
+1 more
(R17618C +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(I15927V +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 9
+9 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(L15893* +5 more)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
LOC126806425, TTN
+1 more
(N17512K +4 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LOC126806425, TTN
+1 more
(V14943L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806425, TTN
+1 more
(R14941H +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination