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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUSK
(T300N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MUSK
(M605I +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MUSK
(A727V +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MUSK
(E735K +3 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 9
+2 more
GConflicting classifications of pathogenicity
MUSK
(V409M +3 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 9
+2 more
GUncertain significance
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