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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129456123, LOC130065248
+833 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+571 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
ADAM33, ADISSP
+579 more
Copy number gain
See cases
GPathogenic
FASTKD5, FERMT1
+814 more
Copy number gain
See cases
GPathogenic
LOC130065324, LOC130065325
+581 more
Copy number gain
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
BANF2
(M53I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BANF2
(Q77K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBBP9, RRBP1
+10 more
Deletion
Congenital dyserythropoietic anemia, type II
+1 more
GPathogenic
BANF2, BFSP1
+49 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
THBD, TMC2
+164 more
Copy number gain
not provided
GPathogenic
BANF2, DSTN
+6 more
Deletion
not provided
GPathogenic
SEC23B, SPTLC3
+28 more
Copy number gain
not provided
GUncertain significance
ANKEF1, BANF2
+49 more
Copy number loss
not provided
GPathogenic
ABHD12, ACSS1
+177 more
Copy number gain
not provided
GPathogenic
BANF2, BFSP1
+29 more
Copy number gain
not provided
GPathogenic
HCK, HM13
+89 more
Duplication
not provided
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ESF1, FAM110A
+178 more
Copy number gain
not provided
GPathogenic
ABHD12, ACSS1
+176 more
Copy number gain
See cases
GPathogenic
CCM2L, CD93
+89 more
Copy number gain
See cases
GPathogenic
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