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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
USP3
(P14Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(N35K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(T69S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
USP3
(K73R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
USP3
(T93I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
USP3
(R53C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(D99V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(S108T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(E176K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(M265T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(G279S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(G238A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(A306E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(T267M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(I313V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(F270C +1 more)
Single nucleotide variant
(missense variant +1 more)
Neutropenia
+1 more
GUncertain significance
USP3
(R288T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(R352C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3
(P316T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
USP3, USP3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
USP3, USP3-AS1
(T382I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
USP3, USP3-AS1
(V428I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
USP3, USP3-AS1
(C395R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
USP3, USP3-AS1
(E406G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
USP3, USP3-AS1
(G422R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC126862155, USP3
+1 more
(T473I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP3-AS1, LOC126862155
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LOC126862155, USP3
+1 more
(S517P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862155, USP3
+1 more
(L520F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APH1B, C2CD4A
+19 more
Deletion
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
APH1B, CA12
+7 more
Duplication
Hypertrophic cardiomyopathy
GUncertain significance
USP3, RAB8B
+2 more
Copy number gain
not provided
GUncertain significance
ANKDD1A, APH1B
+40 more
Deletion
Nemaline myopathy 6
GLikely pathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
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