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Links from Gene

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USP30
(C291fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
USP30, USP30-AS1
(M10I)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
USP30-AS1, USP30
(A12V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
USP30, USP30-AS1
(A25E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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