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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
NELFA, NICOL1
+504 more
Copy number loss
See cases
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
AFAP1, AFAP1-AS1
+633 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+504 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+674 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+597 more
Copy number loss
See cases
GPathogenic
LOC129992028, LOC129992029
+691 more
Copy number loss
See cases
GPathogenic
LOC129992002, LOC129992003
+597 more
Copy number loss
See cases
GPathogenic
LOC126806993, LOC126806994
+702 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+569 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+536 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+657 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+623 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
LOC129992237, LOC129992238
+861 more
Copy number gain
See cases
GPathogenic
LOC129992157, LOC129992158
+832 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+618 more
Copy number gain
See cases
GPathogenic
LOC129992049, LOC129992050
+537 more
Copy number loss
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+716 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+659 more
Copy number loss
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+500 more
Copy number loss
See cases
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+365 more
Copy number loss
See cases
GPathogenic
ACOX3, BOD1L1
+193 more
Inversion
Dihydropteridine reductase deficiency
GPathogenic
ACOX3, CPZ
+54 more
Copy number gain
See cases
GLikely benign
CPZ, DEFB131A
+28 more
Copy number gain
See cases
GLikely benign
USP17L24, USP17L25
+6 more
Copy number gain
See cases
GLikely benign
ABLIM2, ACOX3
+83 more
Deletion
not provided
GPathogenic
ABLIM2, ACOX3
+140 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+120 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
MSANTD1, MSX1
+117 more
Copy number loss
not provided
GPathogenic
USP17L24, USP17L25
+132 more
Copy number loss
not provided
GPathogenic
RNF212, RNF4
+162 more
Copy number gain
4p16.3 microduplication syndrome
GPathogenic
DEFB131A, DRD5
+22 more
Deletion
not provided
GUncertain significance
ABLIM2, ACOX3
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+212 more
Copy number gain
FETAL DEMISE
GPathogenic
DEFB131A, DRD5
+22 more
Copy number gain
not specified
GUncertain significance
HGFAC, UVSSA
+141 more
Copy number loss
not provided
GPathogenic
FGFBP2, SMIM20
+161 more
Copy number gain
not provided
GPathogenic
RGS12, RNF212
+140 more
Copy number loss
not provided
GPathogenic
KLF3, KLHL5
+226 more
Copy number gain
See cases
GPathogenic
ADD1, ABLIM2
+146 more
Copy number loss
See cases
GPathogenic
USP17L18, USP17L17
+21 more
Copy number gain
not provided
GUncertain significance
ABLIM2, ACOX3
+65 more
Copy number loss
not provided
GLikely pathogenic
ABLIM2, ACOX3
+114 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+111 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+161 more
Copy number gain
not provided
GPathogenic
ABLIM2, ACOX3
+69 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+108 more
Copy number loss
not provided
GPathogenic
GABRA2, GABRA4
+226 more
Copy number gain
not provided
GPathogenic
NELFA, NICOL1
+130 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+120 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+114 more
Copy number loss
See cases
GPathogenic
HTRA3, HTT
+267 more
Copy number gain
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+121 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
BOD1L1, LDB2
+161 more
Copy number loss
See cases
GPathogenic
LAP3, CC2D2A
+71 more
Copy number gain
See cases
GPathogenic
C4orf50, EVC
+140 more
Copy number loss
See cases
GPathogenic
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