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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MARCHF5
(T20A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF5
(S59G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF5
(K157R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM6, ALDH18A1
+83 more
Copy number loss
not specified
GPathogenic
BTAF1, CPEB3
+3 more
Copy number gain
not provided
GUncertain significance
BTAF1, CEP55
+20 more
Copy number gain
not provided
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ACSM6, ALDH18A1
+33 more
Copy number loss
See cases
GPathogenic
ACTA2, ANKRD1
+46 more
Copy number loss
not provided
GPathogenic
ACSM6, ALDH18A1
+49 more
Copy number loss
not specified
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
BTAF1, CEP55
+20 more
Copy number loss
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
ABCC2, ACSM6
+76 more
Copy number loss
See cases
GPathogenic
A1CF, ABCC2
+722 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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