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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935184, TTN
+1 more
(I32620L +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC129935184, TTN
+1 more
(T35185I +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GUncertain significance
LOC129935184, TTN
+1 more
(Y32614H +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935184, TTN
+1 more
(R32606H +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LOC129935184, TTN
+1 more
(S35172del +5 more)
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
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