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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
Deletion
(inframe_indel)
Tibial muscular dystrophy
GPathogenic
TTN, TTN-AS1
(Q33396* +5 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
TTN, TTN-AS1
(K27023fs +5 more)
Deletion
(frameshift variant)
TTN-related condition
+9 more
GPathogenic
TTN, TTN-AS1
(L34315P +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GLikely pathogenic
TTN, TTN-AS1
(I33379N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(H33378P +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
Gnot provided
TTN, TTN-AS1
Indel
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GPathogenic
TTN, TTN-AS1
(S33315fs +5 more)
Deletion
(frameshift variant)
Tibial muscular dystrophy
GPathogenic
TTN, TTN-AS1
(K35556fs +5 more)
Deletion
(frameshift variant)
Early-onset myopathy with fatal cardiomyopathy
GPathogenic
LOC129935184, TTN
+1 more
(Q35176fs +5 more)
Deletion
(frameshift variant)
Early-onset myopathy with fatal cardiomyopathy
GPathogenic
TTN-AS1, TTN
(R31523W +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+11 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(N31786K +5 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
GPathogenic
TTN, TTN-AS1
(P31732L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(W31729C +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(W31729L +5 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
GPathogenic
TTN, TTN-AS1
(W31729R +5 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
GPathogenic
TTN, TTN-AS1
(C31712R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(P31709R +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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