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Links from Gene

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUSK
(D198N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(R168K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(S386C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MUSK
(P138L +3 more)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 1
GUncertain significance
MUSK
(E90*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MUSK
(Y394C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(A208T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(F166C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(W366R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(R442G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(S420R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(S397F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(Y331H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MUSK
(T85I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(F376L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(I7T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(K337Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MUSK
(T780I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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