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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
C1orf74, CAMK1G
+97 more
Copy number loss
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
RPS6KC1, SERTAD4
+185 more
Deletion
not provided
GPathogenic
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
G0S2, TRAF3IP3
+9 more
Copy number gain
not provided
GUncertain significance
CD34, MDM4
+145 more
Copy number gain
not provided
Gnot provided
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
ANGEL2, ATF3
+63 more
Copy number gain
not provided
GUncertain significance
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
CAMK1G, CD34
+75 more
Copy number loss
Global developmental delay
+2 more
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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