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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
ATAD3C, AURKAIP1
+520 more
Copy number loss
See cases
GPathogenic
LOC129929144, LOC129929145
+458 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+282 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+336 more
Copy number loss
See cases
GPathogenic
LINC01786, LINC02593
+338 more
Copy number gain
See cases
GPathogenic
TMEM240, TMEM88B
+181 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+337 more
Copy number loss
See cases
GPathogenic
FNDC10, GABRD
+254 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+249 more
Copy number loss
See cases
GPathogenic
ATAD3A, ATAD3B
+341 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+243 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+275 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+449 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+284 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+320 more
Copy number gain
See cases
GLikely pathogenic
ACAP3, ACTRT2
+337 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+238 more
Copy number gain
See cases
GUncertain significance
LOC129929082, LOC129929083
+238 more
Copy number loss
See cases
GPathogenic
AGRN, C1orf159
+74 more
Copy number loss
See cases
GUncertain significance
SSU72, TAS1R3
+325 more
Copy number loss
See cases
GPathogenic
LOC129929188, LOC129929189
+332 more
Copy number gain
See cases
GPathogenic
AGRN, B3GALT6
+75 more
Copy number gain
See cases
GPathogenic
ACAP3, AGRN
+244 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+470 more
Copy number loss
See cases
GPathogenic
TMEM201, TMEM240
+806 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+490 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+325 more
Copy number loss
See cases
GPathogenic
PLEKHN1, PRDM16
+441 more
Copy number loss
See cases
GPathogenic
MIR200B, MIR429
+205 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+329 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+401 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+292 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+252 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+244 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+270 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+339 more
Copy number loss
See cases
GPathogenic
LOC129929181, LOC129929182
+401 more
Copy number loss
See cases
GPathogenic
ACAP3, ACTRT2
+260 more
Copy number loss
See cases
GPathogenic
FAM41C, LINC01128
+2 more
Copy number gain
See cases
GBenign
ACAP3, ACTRT2
+341 more
Copy number gain
See cases
GPathogenic
LOC129929093, LOC129929094
+274 more
Copy number loss
See cases
GPathogenic
SNORD167, SSU72
+234 more
Copy number loss
See cases
GPathogenic
ACAP3, AGRN
+237 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+519 more
Copy number loss
See cases
GPathogenic
FAM41C, LINC01128
+2 more
Copy number gain
See cases
GBenign
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