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Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
PRKAG2, PRKAG2-AS1
+1052 more
Copy number gain
See cases
GPathogenic
LOC129389895, LOC129389896
+1046 more
Copy number gain
See cases
GPathogenic
TRBV27, TRBV28
+1025 more
Copy number gain
See cases
GPathogenic
OR2A2, OR2A25
+1025 more
Copy number gain
See cases
GPathogenic
TRC-GCA9-3, TRC-GCA9-4
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999635, LOC129999636
+944 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
LOC129999721, LOC129999722
+707 more
Copy number loss
See cases
GPathogenic
ACTR3C, ARHGEF35
+172 more
Copy number gain
See cases
GLikely pathogenic
LOC129999681, LOC129999682
+573 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+358 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+540 more
Copy number loss
See cases
GPathogenic
LOC129999684, LOC129999685
+538 more
Copy number loss
See cases
GLikely pathogenic
LOC129999655, LOC129999656
+533 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+473 more
Copy number loss
See cases
GPathogenic
UBE3C, VIPR2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+329 more
Copy number gain
See cases
GPathogenic
ACTR3C, ATP6V0E2
+142 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+293 more
Copy number loss
See cases
GPathogenic
ZNF282
(P52R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(A63T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(M86R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(Q90R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(T139M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(V153M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(A239T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(G241D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(E267K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(L282R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(V283G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(L298Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(R304Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(T313M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(I321F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(I321V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(E334D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(D343N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(I349S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(L358V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(Q418P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(S423L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(P439T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(P442S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF282
(V454A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF282
(P466L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF282
(T472S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(D478G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(G481C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(G483S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(A486V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(G495S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(G512S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(A513T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(S519L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF282
(I535V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB8, ABCF2
+125 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+165 more
Copy number gain
not specified
GPathogenic
LOC100134040, LRRC61
+40 more
Copy number loss
not specified
GPathogenic
TMEM176B, ZNF425
+49 more
Copy number loss
not provided
GPathogenic
INSIG1, PDIA4
+80 more
Copy number loss
not provided
GPathogenic
C7orf33, CNTNAP2
+18 more
Copy number loss
not provided
GUncertain significance
CLCN1, RHEB
+123 more
Copy number loss
not provided
GPathogenic
ARHGEF35, KEL
+169 more
Copy number loss
not provided
GPathogenic
NDUFB2, NOBOX
+125 more
Copy number loss
not provided
GPathogenic
CTAGE6, CTAGE8
+141 more
Deletion
not provided
GPathogenic
RAB19, RNY1
+123 more
Copy number loss
not provided
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
CUL1, DNAJB6
+80 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+186 more
Copy number gain
not provided
GPathogenic
ACTR3C, ABCB8
+75 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+72 more
Copy number loss
not provided
GPathogenic
ABCB8, ABCF2
+96 more
Copy number gain
not provided
Gnot provided
ATP6V0E2, C7orf33
+20 more
Copy number loss
not provided
Gnot provided
ABCB8, ABCF2
+190 more
Copy number loss
See cases
GPathogenic
NOM1, NOS3
+80 more
Copy number loss
not provided
GPathogenic
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
OR2A25, OR2A42
+192 more
Copy number gain
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ATP6V0E2, C7orf33
+20 more
Duplication
not provided
Gnot provided
ABCB8, ABCF2
+229 more
Copy number gain
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+143 more
Copy number loss
not provided
GPathogenic
ABCB8, ABCF2
+162 more
Copy number loss
See cases
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+138 more
Copy number loss
See cases
GPathogenic
ABCB8, ACTR3C
+46 more
Copy number gain
See cases
GUncertain significance
DGKI, DNAJB6
+166 more
Copy number gain
See cases
GPathogenic
CRYGN, CTAGE4
+89 more
Copy number loss
Abnormal esophagus morphology
GPathogenic
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