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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USP30
(G34E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(Y72F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(Q114P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
Single nucleotide variant
(synonymous variant)
not provided
GBenign
USP30
(H136L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(T207K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(M201V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(Q240R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(C291fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
USP30
(R327Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(T304M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(N315D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(P389S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
USP30
(P397S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(T383A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(T383M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(P387L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(S399G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(S450Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(S461F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(A463T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(E469K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(V471I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP30
(E481K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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