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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAL, CATSPER2
+69 more
Copy number loss
See cases
GLikely pathogenic
CKMT1A, CTDSPL2
+42 more
Copy number loss
See cases
GUncertain significance
ACTC1, ADAL
+200 more
Copy number gain
not specified
GPathogenic
CKMT1A, ELL3
+7 more
Copy number gain
not provided
GUncertain significance
ADAL, AFG2B
+103 more
Deletion
not provided
GPathogenic
BLOC1S6, C15orf48
+61 more
Copy number loss
not specified
GPathogenic
ADAL, CATSPER2
+24 more
Copy number loss
not provided
GUncertain significance
ALDH1A2, ALPK3
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
TGM5, PDIA3
+22 more
Copy number gain
not provided
GUncertain significance
AP4E1, ARPP19
+76 more
Copy number loss
not provided
GPathogenic
AAGAB, ABHD17C
+523 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+561 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+561 more
Copy number gain
See cases
GPathogenic
ADAL, AP4E1
+107 more
Copy number loss
See cases
GPathogenic
GPR176, GRAMD2A
+568 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+446 more
Copy number gain
See cases
GPathogenic
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