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Items: 92

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
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
ABCB8, ABCF2
+293 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+212 more
Copy number gain
See cases
GLikely pathogenic
ABCB8, ABCF2
+407 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+205 more
Copy number gain
See cases
GUncertain significance
ABCB8, ABCF2
+191 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+375 more
Copy number loss
See cases
GPathogenic
GIMAP1-GIMAP5, GIMAP5
(L18F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GIMAP1-GIMAP5, GIMAP5
(V151I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GIMAP1-GIMAP5, GIMAP5
(S157T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GIMAP1-GIMAP5, GIMAP5
(R40K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GIMAP1-GIMAP5, GIMAP5
(G54R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GIMAP1-GIMAP5, GIMAP5
(D67E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GIMAP5, GIMAP1-GIMAP5
(I123T +2 more)
Single nucleotide variant
(missense variant)
Portal hypertension, noncirrhotic, 2
+1 more
GPathogenic/Likely pathogenic
GIMAP1-GIMAP5, GIMAP5
(E299Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GIMAP1-GIMAP5, GIMAP5
(P109L +2 more)
Single nucleotide variant
(missense variant)
Portal hypertension, noncirrhotic, 2
+1 more
GPathogenic/Likely pathogenic
GIMAP1-GIMAP5, GIMAP5
(L149V +2 more)
Single nucleotide variant
(missense variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
GIMAP1-GIMAP5, GIMAP5
(R382W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GIMAP5, GIMAP1-GIMAP5
(R254Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GIMAP1-GIMAP5, GIMAP5
(L280P +1 more)
Single nucleotide variant
(missense variant)
Portal hypertension, noncirrhotic, 2
+1 more
GConflicting classifications of pathogenicity
GIMAP1-GIMAP5, GIMAP5
(L223F +2 more)
Single nucleotide variant
(missense variant)
Portal hypertension, noncirrhotic, 2
+1 more
GPathogenic/Likely pathogenic
GIMAP1-GIMAP5, GIMAP5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GIMAP1-GIMAP5, GIMAP5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AOC1, GIMAP1
+7 more
Duplication
Long QT syndrome
GUncertain significance
AOC1, GIMAP1
+7 more
Deletion
Long QT syndrome
GPathogenic
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
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
ABCB8, ABCF2
+31 more
Deletion
not provided
GPathogenic
ABCB8, ABCF2
+30 more
Duplication
not provided
GUncertain significance
ABCB8, ABCF2
+30 more
Deletion
not provided
GPathogenic
ACTR3C, AOC1
+14 more
Copy number loss
not provided
GUncertain significance
ABCB8, ABCF2
+40 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
AOC1, GIMAP1
+10 more
Copy number gain
not specified
GUncertain significance
ACTR3C, AGAP3
+65 more
Copy number loss
not provided
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
ABCB8, AOC1
+17 more
Deletion
Long QT syndrome
GPathogenic
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
AOC1, GIMAP1
+10 more
Copy number gain
not provided
GUncertain significance
ABCB8, ABCF2
+40 more
Copy number gain
not provided
GUncertain significance
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
GIMAP1, GIMAP2
+4 more
Copy number loss
See cases
GUncertain significance
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
ABCB8, ABCF2
+63 more
Copy number gain
See cases
GPathogenic
CRYGN, CTAGE4
+89 more
Copy number loss
Abnormal esophagus morphology
GPathogenic
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