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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105378448, LOC107195252
+245 more
Copy number loss
See cases
GPathogenic
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
ABCC2, ABLIM1
+821 more
Copy number gain
See cases
GPathogenic
ZDHHC16
(R13H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC16
(R17G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC16
(R17C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC16
(G34D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC16
(R77H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC16
(W78C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZDHHC16
(A96V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZDHHC16
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
ZDHHC16
(A152T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZDHHC16
(D197N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZDHHC16
(F177C +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZDHHC16
(R220Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZDHHC16
(G309S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZDHHC16
(M278T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCC2, ACSM6
+74 more
Copy number loss
not specified
GPathogenic
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ANKRD2, C10orf62
+9 more
Copy number gain
not specified
GUncertain significance
ACSM6, ALDH18A1
+83 more
Copy number loss
not specified
GPathogenic
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ARHGAP19, EXOSC1
+7 more
Copy number loss
not provided
GUncertain significance
ANKRD2, AVPI1
+12 more
Copy number gain
not specified
GUncertain significance
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
NFKB2, NHLRC2
+722 more
Copy number gain
See cases
GPathogenic
ABCC2, ACSM6
+76 more
Copy number loss
See cases
GPathogenic
A1CF, ANXA8L1
+723 more
Copy number gain
See cases
GPathogenic
CYP17A1, KLLN
+206 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
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