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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(C31712R +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(K16664* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GLikely pathogenic
LOC126806424, TTN
+1 more
(W17330* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+5 more
GLikely pathogenic
TTN
(D1232V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GUncertain significance
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