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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806430, TTN
(T6225A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
LOC126806430, TTN
(E4953Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
LOC126806430, TTN
(F6125S +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
LOC126806430, TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GLikely benign
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