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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
LOC129931527, LOC129931528
+91 more
Copy number loss
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+67 more
Copy number gain
See cases
GUncertain significance
ASH1L, ASH1L-AS1
+45 more
Copy number gain
See cases
GUncertain significance
THBS3, THBS3-AS1
(R1005Q +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(Q678H +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(I833T +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(V603M +11 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(R881C +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(R830Q +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(V656L +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(A537V +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(V686I +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(R624S +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(P455A +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(V478I +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(A608S +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(D531H +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(V406I +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(G403D +11 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(R560H +11 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(D652N +11 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(S350R +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(Q407H +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(N284S +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(V446M +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(N259D +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(N207S +10 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(Q480H +2 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
THBS3, THBS3-AS1
(C351Y +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(R181H +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(A126T +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(C277Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
THBS3, THBS3-AS1
(G100R +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(G168E +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(A293T +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(P125S +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(R261H +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(V268A +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(E124K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(V123M +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(T179A +4 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(H213Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(G170R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(E126K +2 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
not specified
GUncertain significance
THBS3, THBS3-AS1
(Y199H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
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