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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
LOC129935841, LOC129935842
+1148 more
Copy number gain
See cases
GPathogenic
LOC129935871, LOC129935872
+986 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+630 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+455 more
Copy number loss
See cases
GPathogenic
LOC129935973, LOC129935974
+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
HDAC4, HDAC4-AS1
+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
ACKR3, AGAP1
+314 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+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
LOC122889015, LOC122889016
+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
AGXT, ANKMY1
+270 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+264 more
Copy number loss
See cases
GPathogenic
LOC129935970, LOC129935971
+251 more
Copy number loss
See cases
GPathogenic
COPS9, CROCC2
+250 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+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
AGXT, ANKMY1
+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
AGXT, ANKMY1
+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
ATG4B, BOK
+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
Normal pregnancy
+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
Preeclampsia
+2 more
Gnot provided
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