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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806426, TTN
+1 more
(D13839N +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GLikely benign
LOC126806426, TTN
+1 more
(N13797S +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LOC126806426, TTN
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+3 more
GLikely benign
LOC126806426, TTN
+1 more
(I16318T +5 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
LOC126806426, TTN
+1 more
(M16297I +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GUncertain significance
LOC126806426, TTN
+1 more
(A13712T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
LOC126806426, TTN
+1 more
(P16243T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806426, TTN
+1 more
(P16243S +5 more)
Single nucleotide variant
(missense variant)
Tip-toe gait
+11 more
GConflicting classifications of pathogenicity
LOC126806426, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LOC126806426, TTN
+1 more
(V13661M +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
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