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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
OR6B3, OTOS
+1148 more
Copy number gain
See cases
GPathogenic
AAMP, ABCB6
+986 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+630 more
Copy number gain
See cases
GPathogenic
UGT1A6, UGT1A7
+455 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+455 more
Copy number loss
See cases
GPathogenic
LOC129935990, LOC129935991
+361 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+359 more
Copy number loss
See cases
GPathogenic
LOC126806577, LOC126806578
+334 more
Copy number loss
See cases
GPathogenic
LOC110120803, LOC110121201
+334 more
Copy number loss
See cases
GPathogenic
PRLH, PRR21
+325 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+318 more
Copy number loss
See cases
GPathogenic
LOC129935986, LOC129935987
+314 more
Copy number loss
See cases
GPathogenic
LOC129936018, LOC129936019
+311 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+309 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+303 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+298 more
Copy number loss
See cases
GPathogenic
ACKR3, AGXT
+287 more
Copy number loss
See cases
GPathogenic
ACKR3, AGXT
+276 more
Copy number loss
See cases
GPathogenic
GPC1-AS1, GPR35
+274 more
Deletion
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+274 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+271 more
Copy number loss
See cases
GPathogenic
RBM44, RNPEPL1
+270 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+264 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+251 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+250 more
Copy number loss
See cases
GPathogenic
LOC129935988, LOC129935989
+235 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+185 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+145 more
Copy number loss
See cases
GPathogenic
FAM240C, FARP2
+143 more
Copy number loss
See cases
GPathogenic
NEU4, PASK
+138 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+140 more
Copy number loss
See cases
GLikely pathogenic
AGXT, ANKMY1
+140 more
Copy number loss
See cases
GUncertain significance
AGXT, ANKMY1
+131 more
Copy number loss
See cases
GPathogenic
LINC01238, LINC01880
+127 more
Copy number loss
See cases
GLikely pathogenic
LOC132088835, LOC132088836
+96 more
Copy number loss
See cases
GLikely pathogenic
ATG4B, BOK
+56 more
Copy number loss
See cases
GPathogenic
D2HGDH, DTYMK
+44 more
Copy number loss
See cases
GUncertain significance
ATG4B, BOK
+39 more
Copy number gain
See cases
GUncertain significance
ATG4B, BOK
+32 more
Copy number loss
See cases
GUncertain significance
ATG4B, D2HGDH
+29 more
Copy number loss
See cases
GUncertain significance
FAM240C, GAL3ST2
+9 more
Copy number loss
See cases
GBenign
FAM240C, LINC01237
+5 more
Copy number loss
See cases
GBenign
FAM240C, LINC01237
+5 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+4 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+4 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+6 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+4 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+6 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+4 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+4 more
Copy number gain
See cases
GBenign
LINC01237, LINC01238
+6 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+6 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number gain
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number gain
See cases
GBenign
LINC01237, LINC01238
+4 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+4 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number gain
See cases
GBenign
LINC01237, LINC01238
+4 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+6 more
Deletion
Gestational diabetes mellitus uncontrolled
+1 more
Gnot provided
LINC01237, LINC01238
+2 more
Copy number gain
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number gain
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number loss
See cases
GBenign
LINC01237, LINC01238
+2 more
Copy number loss
See cases
GBenign
LINC01237, LOC285097
+6 more
Copy number loss
Premature ovarian failure
GBenign
LINC01237, LINC01238
+6 more
Deletion
Large for gestational age
+2 more
Gnot provided
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