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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABHD12B, ARF6
+394 more
Copy number gain
See cases
GLikely pathogenic
ABHD12B, ATL1
+70 more
Copy number gain
See cases
GUncertain significance
ABHD12B, ATG14
+217 more
Copy number loss
See cases
GPathogenic
TRIM9
(F656L +18 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(I530T +18 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(D612E +15 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(T454I +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(G516V +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(A515S +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(Q449H +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(A399T +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(V434G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(G366D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(G364S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(A335V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(S308G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(R299H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(F294L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(G283R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TRIM9
(V263L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(M246V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(R208C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(S161G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(R140W)
Single nucleotide variant
(missense variant +1 more)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
TRIM9
(P129L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(A105V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(Y81C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM9
(M68I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+447 more
Copy number gain
See cases
GPathogenic
ABHD12B, ATL1
+11 more
Copy number gain
not specified
GUncertain significance
NEMF, SAV1
+16 more
Copy number gain
not provided
GUncertain significance
ABHD12B, PYGL
+2 more
Copy number gain
not provided
GUncertain significance
TRIM9, SAV1
+5 more
Copy number gain
not provided
GUncertain significance
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
ERG28, OR11G2
+635 more
Copy number gain
See cases
GPathogenic
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