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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065401, LOC130065402
+348 more
Copy number gain
See cases
GPathogenic
LOC130065344, LOC130065345
+455 more
Copy number gain
See cases
GPathogenic
LOC129456123, LOC130065248
+833 more
Copy number gain
See cases
GPathogenic
LOC112694699, LOC112694712
+306 more
Copy number gain
See cases
GUncertain significance
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+571 more
Copy number gain
See cases
GPathogenic
LOC114004355, LOC116286198
+347 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
LOC130065322, LOC130065323
+300 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+76 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+45 more
Copy number loss
See cases
GUncertain significance
ADAM33, ADISSP
+33 more
Copy number gain
See cases
GUncertain significance
CENPB
(R588G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(G536S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(Q493H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CENPB
(S456N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(G452V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(E447D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(G439E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(E425D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(G422E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(A381V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(R338G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(Q332K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(F316S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(F316V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(R298G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(G297S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(D282Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(K276N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(N264S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(G253R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(P205T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(S193G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(P179S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(R175Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(G166D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(P157A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CENPB
(D25N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM33, ADISSP
+36 more
Duplication
not provided
GUncertain significance
DNAAF9, FERMT1
+35 more
Deletion
Inosine triphosphatase deficiency
GPathogenic
OXT, PANK2
+33 more
Copy number gain
not specified
GUncertain significance
THBD, TMC2
+164 more
Copy number gain
not provided
GPathogenic
TMEM74B, TMX4
+114 more
Copy number gain
not provided
GPathogenic
ADAM33, ADISSP
+100 more
Copy number gain
not provided
GPathogenic
MAVS, OXT
+36 more
Copy number loss
See cases
GLikely pathogenic
ADAM33, ADISSP
+19 more
Deletion
not provided
GPathogenic
CDS2, CENPB
+60 more
Duplication
Pigmentary pallidal degeneration
+1 more
GUncertain significance
SPEF1, UBOX5
+26 more
Copy number gain
See cases
GUncertain significance
ADAM33, ADRA1D
+47 more
Copy number loss
20p12.3 microdeletion syndrome
GPathogenic
ADAM33, ADISSP
+14 more
Duplication
Inosine triphosphatase deficiency
GUncertain significance
FASTKD5, CDC25B
+20 more
Copy number gain
not provided
GUncertain significance
CDC25B, ADAM33
+25 more
Copy number gain
not provided
GUncertain significance
OXT, LZTS3
+26 more
Copy number gain
not provided
GUncertain significance
CDC25B, AVP
+26 more
Copy number loss
not provided
GUncertain significance
ABHD12, ACSS1
+177 more
Copy number gain
not provided
GPathogenic
ADAM33, C20orf27
+5 more
Copy number gain
not provided
GUncertain significance
FERMT1, SPTLC3
+62 more
Copy number loss
not provided
GPathogenic
ADAM33, ADISSP
+58 more
Copy number loss
See cases
GPathogenic
ADAM33, ADISSP
+104 more
Copy number gain
See cases
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+26 more
Copy number loss
See cases
GUncertain significance
ADAM33, ADISSP
+80 more
Copy number gain
See cases
GUncertain significance
ESF1, FAM110A
+178 more
Copy number gain
not provided
GPathogenic
ABHD12, ACSS1
+176 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+85 more
Copy number gain
See cases
GPathogenic
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