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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935183, TTN
+1 more
(A35263V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(A35263S +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(P35261L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(E35257K +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+7 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GBenign
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