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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806422, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
LOC126806422, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
LOC126806422, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806422, TTN
+1 more
(V23366A +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC126806422, TTN
+1 more
(V23302I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LOC126806422, TTN
+1 more
(G23274D +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
LOC126806422, TTN
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+9 more
GConflicting classifications of pathogenicity
LOC126806422, TTN
+1 more
(S23226G +5 more)
Single nucleotide variant
(missense variant)
Familial dilated cardiomyopathy and peripheral neuropathy
+12 more
GBenign/Likely benign
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