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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860963, LOC126860964
+1008 more
Copy number gain
See cases
GPathogenic
ADAMTS14, ADK
+514 more
Copy number loss
See cases
GPathogenic
ADAMTS14, ADK
+580 more
Copy number gain
See cases
GPathogenic
LOC130004132, LOC130004133
+150 more
Copy number loss
See cases
GPathogenic
DUSP29
(K166R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DUSP29
(G150V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DUSP29, LOC130004128
(D99N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DUSP29, LOC130004128
(P98L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DUSP29
(H54Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DUSP29
(R43W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DUSP29
(A38G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COMTD1, DUSP13B
+4 more
Copy number gain
not specified
GUncertain significance
COMTD1, DUSP13B
+5 more
Copy number gain
not specified
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
COMTD1, DUSP13B
+5 more
Duplication
Genitopatellar syndrome
GLikely benign
AP3M1, ADK
+16 more
Duplication
Genitopatellar syndrome
GUncertain significance
ADK, COMTD1
+7 more
Deletion
Genitopatellar syndrome
GPathogenic
COMTD1, DUSP13B
+4 more
Copy number gain
not provided
GUncertain significance
ADAMTS14, ADK
+91 more
Copy number loss
not specified
GPathogenic
COMTD1, DUSP13B
+4 more
Copy number gain
not provided
GUncertain significance
DUSP29, KAT6B
Copy number gain
not provided
GUncertain significance
ACTA2, ADAMTS14
+168 more
Copy number gain
not provided
GPathogenic
DUSP13B, DUSP29
+2 more
Copy number loss
not provided
GUncertain significance
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
NFKB2, NHLRC2
+722 more
Copy number gain
See cases
GPathogenic
ADK, AP3M1
+16 more
Copy number loss
See cases
GPathogenic
A1CF, ANXA8L1
+723 more
Copy number gain
See cases
GPathogenic
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