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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
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
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
FGFBP1, LOC126806998
+393 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
ADGRA3, ANAPC4
+201 more
Copy number loss
See cases
GPathogenic
ANAPC4, CCDC149
+101 more
Copy number loss
See cases
GPathogenic
SOD3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SOD3
(L11Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(D17E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(T20M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(N28S)
Single nucleotide variant
(missense variant)
SOD3-related disorder
GLikely benign
SOD3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SOD3
(A32T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOD3
(E48V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(E48D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(R53P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(D56N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(G57R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(A58T)
Single nucleotide variant
(missense variant)
SOD3-related disorder
GBenign
SOD3
Single nucleotide variant
(synonymous variant)
SOD3-related disorder
GBenign
SOD3
(A88G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(P89T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(A91T)
Single nucleotide variant
(missense variant)
not provided
GBenign
SOD3
(E105Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SOD3
(G119A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(S122R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(P134L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(A150V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(Y159C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(A161V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(A168T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(P170Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(G175D)
Single nucleotide variant
(missense variant)
SOD3-related disorder
GLikely benign
SOD3
(V179G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(E184K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(R189L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(E197K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(N200K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
Single nucleotide variant
(synonymous variant)
SOD3-related disorder
GLikely benign
SOD3
(R220L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOD3
(R231G)
Single nucleotide variant
(missense variant)
SOD3-related disorder
+1 more
GConflicting classifications of pathogenicity
SOD3
(E236Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
RNF212, RNF4
+162 more
Copy number gain
4p16.3 microduplication syndrome
GPathogenic
ADGRA3, CCDC149
+16 more
Copy number loss
not provided
GUncertain significance
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+212 more
Copy number gain
FETAL DEMISE
GPathogenic
ANAPC4, CCDC149
+15 more
Copy number loss
not specified
GLikely pathogenic
ADGRA3, ANAPC4
+23 more
Copy number loss
not specified
GPathogenic
FGFBP2, SMIM20
+161 more
Copy number gain
not provided
GPathogenic
KLF3, KLHL5
+226 more
Copy number gain
See cases
GPathogenic
ADGRA3, ANAPC4
+19 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+161 more
Copy number gain
not provided
GPathogenic
ADGRA3, ANAPC4
+42 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
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
+226 more
Copy number gain
See cases
GPathogenic
ZCCHC4, RBPJ
+14 more
Copy number loss
See cases
GPathogenic
BOD1L1, LDB2
+161 more
Copy number loss
See cases
GPathogenic
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