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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(K27023fs +5 more)
Deletion
(frameshift variant)
TTN-related condition
+9 more
GPathogenic
TTN, TTN-AS1
Indel
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
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
(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
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