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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
LINC02783, LINC03126
+804 more
Copy number loss
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
LOC129929515, LOC129929516
+211 more
Copy number gain
See cases
GPathogenic
ACTL8, AGMAT
+303 more
Copy number loss
See cases
GPathogenic
LOC126805640, LOC126805641
+206 more
Copy number loss
See cases
GPathogenic
FAM231AP, LINC01783
+14 more
Copy number loss
See cases
GBenign
FAM231AP, LINC01783
+14 more
Copy number gain
See cases
GBenign
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
ACTL8, AKR7A2
+58 more
Copy number loss
not specified
GPathogenic
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
AADACL3, AADACL4
+143 more
Copy number loss
not provided
GPathogenic
ACTL8, AKR7A2
+38 more
Copy number loss
not provided
GPathogenic
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
FAM43B, HP1BP3
+77 more
Copy number loss
1p36.1 deletion syndrome
GPathogenic
EMC1, EPHA2
+73 more
Copy number loss
not provided
GPathogenic
NKAIN1, PLA2G2E
+783 more
Copy number gain
Global developmental delay
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ATP13A2, CROCC
+9 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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