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Items: 36

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
+731 more
Copy number gain
Renal agenesis
GPathogenic
FASTKD5, FERMT1
+814 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
ABHD12, ACSS1
+174 more
Copy number gain
See cases
GPathogenic
CST1, CST2
+16 more
Copy number gain
See cases
GUncertain significance
CST8
(T29A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(V31E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(N44K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(E59Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(S60N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(S93R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(D94Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(K97Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(N102D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(S120R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(L122S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CST8
(G124R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BANF2, BFSP1
+49 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
CD93, CFAP61
+24 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
THBD, TMC2
+164 more
Copy number gain
not provided
GPathogenic
CST1, CST11
+13 more
Copy number gain
not provided
GUncertain significance
ABHD12, ACSS1
+117 more
Copy number gain
not provided
GLikely pathogenic
CST9, ACSS1
+57 more
Copy number gain
not provided
GLikely pathogenic
CSTL1, CST8
+2 more
Copy number loss
not provided
GLikely benign
ABHD12, ACSS1
+177 more
Copy number gain
not provided
GPathogenic
HCK, HM13
+89 more
Duplication
not provided
GPathogenic
CD93, CST1
+17 more
Copy number loss
See cases
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+44 more
Copy number loss
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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