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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132090301, LOC132090302
+178 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+99 more
Copy number loss
See cases
GPathogenic
CDIN1, DPH6
+92 more
Copy number loss
See cases
GPathogenic
FAM98B, LINC02694
+24 more
Deletion
Legius syndrome
GPathogenic
LINC02694
Single nucleotide variant
(non-coding transcript variant)
not specified
GUncertain significance
EIF2AK4, FAM98B
+7 more
Duplication
not provided
GUncertain significance
ANKRD63, BAHD1
+49 more
Duplication
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
ACTC1, APBA2
+72 more
Copy number loss
not specified
GPathogenic
ACTC1, ADAL
+200 more
Copy number gain
not specified
GPathogenic
ACTC1, AQR
+10 more
Copy number loss
not specified
GPathogenic
FSIP1, LINC02694
+3 more
Copy number gain
not provided
GUncertain significance
FAM98B, LINC02694
+3 more
Copy number gain
not specified
GUncertain significance
ACTC1, AQR
+26 more
Copy number loss
15q14 microdeletion syndrome
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
SPRED1, LINC02694
+3 more
Copy number gain
not provided
GUncertain significance
CCDC32, RTF1
+60 more
Complex
Spindle cell sarcoma
GPathogenic
THBS1, EIF2AK4
+22 more
Copy number loss
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CDIN1, FAM98B
+8 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
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