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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
ABALON, BCL2L1
+62 more
Copy number gain
See cases
GLikely pathogenic
COX4I2, DEFB115
+27 more
Copy number gain
See cases
GUncertain significance
LOC121627902, LOC121853002
+160 more
Copy number gain
See cases
GPathogenic
ABALON, ASXL1
+104 more
Copy number gain
See cases
GPathogenic
DEFB116
(I102V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(N90T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(D86N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(K66R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(Q65E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(T60S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(G45A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(K32R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(H29Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DEFB116
(F26L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAR2, ACSS2
+98 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+86 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+71 more
Copy number gain
not specified
GPathogenic
ABHD12, ACSS1
+50 more
Copy number gain
not specified
GLikely pathogenic
ABHD12, ACSS1
+117 more
Copy number gain
not provided
GLikely pathogenic
BCL2L1, COX4I2
+15 more
Copy number gain
not provided
GLikely benign
DEFB115, DEFB116
+8 more
Copy number gain
not provided
GLikely benign
BCL2L1, COX4I2
+10 more
Copy number gain
not provided
GLikely benign
DEFB115, DEFB123
+15 more
Copy number gain
not provided
GLikely benign
CST9, ACSS1
+57 more
Copy number gain
not provided
GLikely pathogenic
REM1, DEFB116
+8 more
Copy number gain
not provided
GLikely benign
AAR2, ACSS2
+88 more
Copy number gain
not provided
GPathogenic
COX4I2, DEFB115
+9 more
Copy number gain
not provided
GUncertain significance
HCK, HM13
+89 more
Duplication
not provided
GPathogenic
COX4I2, DEFB115
+10 more
Copy number gain
See cases
GUncertain significance
ABHD12, ACSS1
+27 more
Copy number gain
See cases
GUncertain significance
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
BCL2L1, CCM2L
+18 more
Copy number gain
See cases
GUncertain significance
COX4I2, DEFB116
+8 more
Copy number gain
See cases
GLikely benign
CCM2L, CD93
+89 more
Copy number gain
See cases
GPathogenic
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