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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+543 more
Copy number gain
See cases
GPathogenic
ADHFE1, ALKAL1
+491 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
ASPH, ATP6V1H
+228 more
Copy number loss
See cases
GPathogenic
BPNT2, CA8
+175 more
Copy number loss
See cases
GPathogenic
ASPH, BHLHE22
+222 more
Copy number gain
See cases
GPathogenic
BPNT2, CERNA3
+105 more
Copy number loss
See cases
GPathogenic
ASPH, BPNT2
+108 more
Copy number loss
See cases
GPathogenic
ADHFE1, ARFGEF1
+421 more
Copy number gain
See cases
GPathogenic
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
CYP7A1, FAM110B
+5 more
Copy number loss
not specified
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
IDO1, IDO2
+78 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
ALKAL1, ASPH
+36 more
Copy number gain
See cases
GPathogenic
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