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Links from Gene

Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OR2A5
(L115F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(P287L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(H109D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(I68T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(N282I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(H266Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(F252S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(G231R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(P171T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(A108V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(L86S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB8, ABCF2
+125 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+165 more
Copy number gain
not specified
GPathogenic
CLCN1, RHEB
+123 more
Copy number loss
not provided
GPathogenic
ARHGEF35, KEL
+169 more
Copy number loss
not provided
GPathogenic
OR2A5
(E111D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(G152S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NDUFB2, NOBOX
+125 more
Copy number loss
not provided
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
OR2A5
(C141Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(G209E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(N294K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(R227S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(R220S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(L84R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(G231R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(I114V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(T240S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE6, CTAGE8
+141 more
Deletion
not provided
GPathogenic
OR2A5
(R234C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(P129H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(G233D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(V35I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR2A5
(V184F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(M260I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR2A5
(A223E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB19, RNY1
+123 more
Copy number loss
not provided
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
ARHGEF35, ARHGEF5
+16 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ABCB8, ABCF2
+186 more
Copy number gain
not provided
GPathogenic
EPHA1, EPHB6
+105 more
Copy number loss
Hypertelorism
+7 more
GPathogenic
ABCB8, ABCF2
+96 more
Copy number gain
not provided
Gnot provided
ABCB8, ABCF2
+190 more
Copy number loss
See cases
GPathogenic
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
OR2A5
(T110fs)
Deletion
(frameshift variant)
not provided
GBenign
OR2A25, OR2A42
+192 more
Copy number gain
not provided
GPathogenic
ARHGEF35, ARHGEF5
+44 more
Copy number gain
not provided
GUncertain significance
ARHGEF35, ARHGEF5
+16 more
Copy number gain
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
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
DGKI, DNAJB6
+166 more
Copy number gain
See cases
GPathogenic
ARHGEF35, CTAGE4
+11 more
Copy number gain
Abnormal esophagus morphology
GBenign
PRKAG2, PRKAG2-AS1
+1052 more
Copy number gain
See cases
GPathogenic
TRBC1, TRBC2
+230 more
Copy number gain
See cases
GUncertain significance
TRBV27, TRBV28
+1025 more
Copy number gain
See cases
GPathogenic
ARHGEF35, ARHGEF35-AS1
+20 more
Copy number gain
See cases
GUncertain significance
LOC129389895, LOC129389896
+1046 more
Copy number gain
See cases
GPathogenic
CTAGE6, LOC129389908
+16 more
Copy number loss
See cases
Gconflicting data from submitters
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
CTAGE6, LOC129389908
+15 more
Copy number gain
See cases
GLikely benign
OR2A2, OR2A25
+1025 more
Copy number gain
See cases
GPathogenic
TRBC2, TRBD1
+455 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
ACTR3C, ARHGEF35
+172 more
Copy number gain
See cases
GLikely pathogenic
CTAGE15, CTAGE6
+19 more
Copy number gain
See cases
GLikely benign
LOC129999635, LOC129999636
+944 more
Copy number loss
See cases
GPathogenic
LOC129999721, LOC129999722
+707 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
ARHGEF35, ARHGEF35-AS1
+27 more
Copy number gain
See cases
GLikely benign
CTAGE6, LOC129389908
+15 more
Copy number gain
See cases
GBenign
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
ARHGEF35, ARHGEF35-AS1
+20 more
Copy number gain
See cases
GBenign
AGK, AGK-DT
+192 more
Copy number gain
See cases
GPathogenic
LOC129999681, LOC129999682
+573 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
ADCK2, AGK
+373 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
TRC-GCA9-3, TRC-GCA9-4
+1019 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+358 more
Copy number loss
See cases
GPathogenic
ARHGEF35, ARHGEF35-AS1
+110 more
Copy number loss
See cases
GPathogenic
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