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Items: 76

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
ACTB, ADAP1
+439 more
Copy number gain
See cases
GPathogenic
BRAT1, ACTB
+381 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+357 more
Copy number loss
See cases
GPathogenic
ACTB, ADAP1
+418 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
ACTB, FBXL18
+75 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+119 more
Copy number gain
See cases
GUncertain significance
ACTB, FBXL18
+71 more
Copy number loss
See cases
GPathogenic
LOC129997877, LOC129997878
+137 more
Copy number loss
See cases
GPathogenic
ACTB, FBXL18
+69 more
Copy number loss
See cases
GPathogenic
ACTB, FBXL18
+52 more
Copy number gain
See cases
GUncertain significance
LINC03073, LOC106783574
+120 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+78 more
Copy number gain
See cases
GUncertain significance
ACTB, AIMP2
+63 more
Copy number loss
See cases
GPathogenic
ACTB, FBXL18
+50 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+71 more
Copy number loss
See cases
GLikely pathogenic
FSCN1, LOC110121162
+20 more
Copy number loss
See cases
GLikely pathogenic
FSCN1
(H65P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(A71E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(P87A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FSCN1
(Q104R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(H108Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(V134L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(V188M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(G219S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(Q258H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(A267G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(E270K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(R308H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(T316M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FSCN1
(E339K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(H392R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(V400I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(V413L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(T447I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(D450V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(D450E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(G467R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(R468C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(D473N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSCN1
(A488T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTB, AP5Z1
+11 more
Deletion
Baraitser-Winter syndrome 1
GUncertain significance
ACTB, FBXL18
+4 more
Copy number gain
not specified
GLikely pathogenic
RNF216, SDK1
+48 more
Copy number gain
not provided
GPathogenic
PSMG3, RAC1
+73 more
Copy number gain
not provided
GPathogenic
ACTB, AP5Z1
+15 more
Copy number loss
not provided
GPathogenic
MAD1L1, MAFK
+73 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
ACTB, ADAP1
+98 more
Copy number gain
See cases
GPathogenic
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ACTB, AIMP2
+54 more
Copy number gain
not provided
GPathogenic
AIMP2, CCZ1
+7 more
Copy number gain
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ACTB, ADAP1
+98 more
Copy number gain
not provided
GPathogenic
WIPI2, ACTB
+13 more
Copy number gain
not provided
GPathogenic
ACTB, AIMP2
+33 more
Copy number gain
not provided
GPathogenic
RNF216, RSPH10B
+3 more
Copy number gain
not provided
GLikely pathogenic
FSCN1, OCM
+1 more
Copy number gain
not provided
GUncertain significance
FSCN1, ACTB
+3 more
Copy number loss
not provided
GUncertain significance
AP5Z1, C1GALT1
+42 more
Copy number gain
See cases
GPathogenic
ACTB, AIMP2
+30 more
Copy number gain
See cases
GLikely pathogenic
ACTB, ADAP1
+76 more
Copy number gain
See cases
GPathogenic
ACTB, FBXL18
+5 more
Copy number gain
See cases
GUncertain significance
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
DAGLB, DNAAF5
+76 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+82 more
Copy number gain
See cases
GPathogenic
TNRC18, TTYH3
+80 more
Copy number gain
See cases
GPathogenic
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