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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNE
(I324fs)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 4A
+2 more
GPathogenic/Likely pathogenic
C17orf107, CHRNE
(V285I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital myasthenic syndrome 4A
GLikely pathogenic
C17orf107, CHRNE
(T170R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
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