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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ABCB5, AGMO
+560 more
Copy number gain
See cases
GPathogenic
LOC129998072, LOC129998073
+331 more
Copy number loss
See cases
GPathogenic
ABCB5, AGMO
+248 more
Copy number loss
See cases
GPathogenic
ABCB5, AGR2
+287 more
Copy number gain
See cases
GPathogenic
LOC111365192, LOC111413014
+281 more
Copy number loss
See cases
GPathogenic
ABCB5, ADCYAP1R1
+387 more
Copy number loss
See cases
GPathogenic
LOC129998064, NUP42
(A2T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC129998064, NUP42
(I3V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129998064, NUP42
(R13S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129998064, NUP42
(G15R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129998064, NUP42
(A25T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129998064, NUP42
(A25V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(R45C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(R45H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(N56I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(S62G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(S62N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(W69S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(W69C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(T89A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(G94V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(E99V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(M1T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NUP42
(V178I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NUP42
(R57C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(N183I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP42
(S61Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(S80N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(P163A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(P170A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(F180L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(F311C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(G214A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(S142G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(G344S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(N261D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(T413I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(V395G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(K402T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP42
(L223I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLHL7, NUP42
Deletion
not provided
GUncertain significance
ABCB5, CBX3
+75 more
Copy number loss
not specified
GPathogenic
ABCB5, AGMO
+71 more
Copy number loss
not specified
GPathogenic
GPNMB, CCDC126
+12 more
Copy number gain
not provided
GUncertain significance
GPNMB, HYCC1
+5 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
GPNMB, HYCC1
+8 more
Copy number loss
not specified
GUncertain significance
ABCB5, ADCYAP1R1
+117 more
Copy number gain
not specified
GLikely pathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
NFE2L3, NOD1
+53 more
Deletion
Silver Russell Syndrome-related disorder
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+158 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+121 more
Copy number gain
See cases
GPathogenic
RP9, SCIN
+196 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ABCB5, ADCYAP1R1
+119 more
Copy number gain
See cases
GPathogenic
ADCYAP1R1, AQP1
+68 more
Copy number loss
See cases
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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