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Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADD1, ADRA2C
+426 more
Copy number loss
See cases
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, ADD1
+461 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
ABLIM2, ACOX3
+479 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
NSD2, NSG1
+438 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
LOC129992176, LOC129992177
+439 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+659 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+414 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
ADRA2C, BLOC1S4
+181 more
Deletion
not provided
GLikely pathogenic
ABLIM2, ACOX3
+365 more
Copy number loss
See cases
GPathogenic
MRFAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRFAP1
(V15M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(E21Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(E21K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(F27Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(Y50C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(N62S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(L64F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(S74L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(A78P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(R92Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(K105E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRFAP1
(E106K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
ADD1, ADRA2C
+82 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
ADD1, ADRA2C
+79 more
Copy number gain
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
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
BLOC1S4, CCDC96
+11 more
Copy number loss
not specified
GUncertain significance
HGFAC, UVSSA
+141 more
Copy number loss
not provided
GPathogenic
BLOC1S4, C4orf50
+15 more
Copy number loss
not provided
GUncertain significance
MAN2B2, MRFAP1
Copy number loss
not provided
GUncertain significance
FGFBP2, SMIM20
+161 more
Copy number gain
not provided
GPathogenic
RGS12, RNF212
+140 more
Copy number loss
not provided
GPathogenic
PPP2R2C, RGS12
+32 more
Copy number loss
microdeletion 4p16.3p16.1
GLikely pathogenic
KLF3, KLHL5
+226 more
Copy number gain
See cases
GPathogenic
ADD1, ABLIM2
+146 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+65 more
Copy number loss
not provided
GLikely pathogenic
ABLIM2, ACOX3
+114 more
Copy number loss
not provided
GPathogenic
ADD1, ADRA2C
+76 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+90 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
BLOC1S4, MAN2B2
+4 more
Copy number gain
not provided
GUncertain significance
ABLIM2, ACOX3
+69 more
Copy number loss
not provided
GPathogenic
JAKMIP1, KIAA0232
+90 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
ABLIM2, ACOX3
+108 more
Copy number loss
not provided
GPathogenic
GABRA2, GABRA4
+226 more
Copy number gain
not provided
GPathogenic
ABLIM2, ACOX3
+90 more
Copy number gain
See cases
GLikely pathogenic
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
+89 more
Copy number gain
See cases
GPathogenic
BLOC1S4, C4orf50
+26 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
KIAA0232, LETM1
+91 more
Copy number loss
See cases
GPathogenic
C4orf50, EVC
+140 more
Copy number loss
See cases
GPathogenic
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