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Links from Gene

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF4, DNAAF4-CCPG1
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCPG1, DNAAF4
+2 more
Deletion
not provided
GLikely pathogenic
ADAM10, ALDH1A2
+35 more
Copy number loss
not provided
GPathogenic
TMOD2, USP50
+43 more
Copy number loss
not provided
GPathogenic
DNAAF4, DNAAF4-CCPG1
+1 more
(P364S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CCPG1, DNAAF4
+2 more
Duplication
not provided
GUncertain significance
CCPG1, DNAAF4
+3 more
Deletion
not provided
GPathogenic
CCPG1, DNAAF4
+3 more
Duplication
Griscelli syndrome type 2
GUncertain significance
CCPG1, DNAAF4
+6 more
Copy number gain
not provided
GUncertain significance
ADAM10, ALDH1A2
+81 more
Copy number gain
not provided
GPathogenic
CCPG1, DNAAF4
+4 more
Copy number gain
not specified
GUncertain significance
CEP152, COPS2
+52 more
Copy number loss
not specified
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
DNAAF4, PIERCE2
Duplication
not provided
GUncertain significance
PIERCE2, RAB27A
+3 more
Copy number gain
not provided
GLikely benign
DNAAF4, PIERCE2
Deletion
not provided
GPathogenic
AP4E1, ARPP19
+47 more
Copy number gain
not provided
GPathogenic
ADAM10, ALDH1A2
+76 more
Copy number gain
not provided
GPathogenic
PIERCE2, DNAAF4
Copy number loss
not provided
GUncertain significance
LYSMD2, ARPP19
+36 more
Copy number gain
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
CCPG1, DNAAF4
+5 more
Copy number gain
See cases
GUncertain significance
ADAM10, ALDH1A2
+37 more
Copy number loss
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
RAB27A, PYGO1
+6 more
Copy number gain
Abnormal esophagus morphology
GLikely benign
CCPG1, DNAAF4
+28 more
Copy number gain
See cases
GUncertain significance
ARPP19, ATOSA
+176 more
Copy number loss
See cases
GPathogenic
CCPG1, DNAAF4
+23 more
Copy number gain
See cases
GPathogenic
ADAM10, ALDH1A2
+287 more
Copy number loss
See cases
GPathogenic
LOC105370829, LOC108281154
+179 more
Inversion
Aromatase excess syndrome
GPathogenic
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