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Items: 1 to 100 of 149

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
LOC101928279, LOC101928306
+346 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
ADD1, ADRA2C
+363 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
ADD1, ADRA2C
+216 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
C4orf50, CRMP1
+11 more
Copy number gain
See cases
Gconflicting data from submitters
CRMP1, EVC
(D661G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(I660L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(A538S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(I645V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(E503D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CRMP1, EVC
(V596I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(Q480R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(H471Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(H591L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(K466fs +3 more)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
CRMP1, EVC
(R461C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1, EVC
(M579V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRMP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CRMP1
(N356I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(E353A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CRMP1
(N341T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRMP1
(G326S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(I277L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(K270E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(D256N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(S373T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(T367A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(I244T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CRMP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CRMP1
(M213I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CRMP1
(V308M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(F301L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(Y180C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CRMP1
(G141R +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CRMP1
(D140N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(E115K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
C4orf50, CRMP1
+31 more
Copy number loss
See cases
GUncertain significance
CRMP1
(A199S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(R177W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(A54V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(L31V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(D141Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C4orf50, CRMP1
+31 more
Copy number loss
See cases
GUncertain significance
CRMP1
(R123Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(L121V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CRMP1
(V88G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(D87N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(A72fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CRMP1
(V73G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(A67S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(S60A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(G41D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
CRMP1
(G33C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(T27I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRMP1
(T27N)
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
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