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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2048 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+2049 more
Copy number gain
See cases
GPathogenic
LOC126861801, LOC126861802
+2047 more
Copy number gain
See cases
GPathogenic
PDS5B, PDX1
+566 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2044 more
Copy number gain
See cases
GPathogenic
LOC126861839, LOC126861840
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2040 more
Copy number gain
See cases
GPathogenic
LOC124849292, LOC124849293
+2028 more
Copy number gain
See cases
GPathogenic
LOC130009376, LOC130009377
+620 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2021 more
Copy number gain
See cases
GPathogenic
LOC130009743, LOC130009744
+2024 more
Copy number gain
See cases
GPathogenic
LOC130009548, LOC130009549
+2024 more
Copy number gain
See cases
GPathogenic
ALOX5AP, B3GLCT
+202 more
Copy number loss
See cases
GPathogenic
ALG5, ALOX5AP
+210 more
Copy number gain
See cases
GPathogenic
LOC126861732, LOC126861733
+213 more
Copy number loss
See cases
GPathogenic
RBM26-AS1, RCBTB1
+1004 more
Copy number gain
See cases
GPathogenic
LOC130009757, LOC130009758
+780 more
Copy number loss
See cases
GPathogenic
AKAP11, ALG5
+485 more
Copy number loss
See cases
GPathogenic
B3GLCT, BRCA2
+79 more
Copy number loss
See cases
GPathogenic
LOC130009739, LOC130009740
+992 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
AKAP11, ALG11
+735 more
Copy number gain
See cases
GPathogenic
LOC130009911, LOC130009912
+938 more
Copy number gain
See cases
GPathogenic
LOC130010180, LOC130010181
+1557 more
Copy number gain
See cases
GPathogenic
CCDC169, CCDC169-SOHLH2
+53 more
Copy number gain
See cases
GUncertain significance
LINC00457, LINC02343
+12 more
Copy number loss
See cases
GUncertain significance
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