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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806433, TTN
(D2443E +1 more)
Single nucleotide variant
(missense variant)
TTN-related disorder
GUncertain significance
LOC126806433, TTN
(G2392S +1 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GBenign/Likely benign
LOC126806433, TTN
(G2386D +1 more)
Single nucleotide variant
(missense variant)
TTN-related disorder
+3 more
GUncertain significance
LOC126806433, TTN
(Q2274* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+4 more
GConflicting classifications of pathogenicity
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