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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
LOC126807210, LOC126807211
+1102 more
Copy number gain
See cases
GPathogenic
LOC126807213, LOC126807214
+1068 more
Copy number gain
See cases
GPathogenic
LOC132089068, LOC132089069
+1051 more
Copy number gain
See cases
GPathogenic
LOC126807202, LOC126807203
+1026 more
Copy number gain
See cases
GPathogenic
LOC129993194, LOC129993195
+903 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
LOC129993418, LOC129993419
+535 more
Copy number gain
See cases
GPathogenic
LOC126807277, LOC126807278
+509 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+485 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+466 more
Copy number loss
See cases
GPathogenic
LOC441052, LRP2BP
+455 more
Copy number loss
See cases
GPathogenic
SAP30-DT, SCRG1
+451 more
Copy number gain
See cases
GPathogenic
LOC129993473, LOC129993474
+386 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+399 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+401 more
Copy number gain
See cases
GUncertain significance
LOC129993510, LOC129993511
+383 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+375 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number gain
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number loss
See cases
GPathogenic
PRIMPOL, RWDD4
+372 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+322 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+339 more
Copy number loss
See cases
GPathogenic
ADAM29, AGA
+103 more
Copy number loss
See cases
GPathogenic
AGA, AGA-DT
+59 more
Copy number loss
See cases
GPathogenic
ACSL1, AGA
+324 more
Copy number loss
See cases
GPathogenic
ACSL1, AGA
+293 more
Copy number loss
See cases
GLikely pathogenic
LOC132089100, LOC132089101
+293 more
Copy number loss
See cases
GPathogenic
LOC126807226, LOC126807227
+285 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+287 more
Copy number loss
See cases
GPathogenic
ACSL1, ANKRD37
+286 more
Copy number loss
See cases
GPathogenic
LOC132089106, LOC132089107
+282 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+267 more
Copy number gain
See cases
GPathogenic
ACSL1, ANKRD37
+275 more
Copy number gain
See cases
GLikely pathogenic
ACSL1, ANKRD37
+275 more
Copy number loss
See cases
GPathogenic
WWC2, WWC2-AS1
+274 more
Copy number gain
See cases
GPathogenic
LINC00290, LINC02500
+4 more
Copy number loss
See cases
GUncertain significance
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