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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ESRRB, EVL
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+880 more
Copy number gain
See cases
GPathogenic
ZFYVE21, ZNF839
+662 more
Copy number gain
See cases
GPathogenic
SNORD114-11, SNORD114-12
+754 more
Copy number loss
See cases
GPathogenic
LOC130056455, LOC130056456
+670 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+666 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+653 more
Copy number gain
See cases
GPathogenic
LOC130056511, LOC130056512
+631 more
Copy number loss
See cases
GPathogenic
LOC126862061, LOC126862062
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
PPP2R5C, RCOR1
+571 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+561 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+441 more
Copy number loss
See cases
GPathogenic
LOC130056610, LOC130056611
+416 more
Copy number loss
See cases
GPathogenic
LOC105378183, LOC112163684
+164 more
Copy number loss
See cases
GPathogenic
IGHV3-38, IGHV3-43
+397 more
Copy number loss
See cases
GPathogenic
MIR4538, MIR4539
+397 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADSS1, AKT1
+177 more
Copy number loss
See cases
GPathogenic
C14orf180, CDC42BPB
+367 more
Copy number loss
See cases
GPathogenic
BTBD6, C14orf180
+304 more
Copy number gain
See cases
GPathogenic
ASPG, ATP5MJ
+72 more
Copy number gain
See cases
GUncertain significance
ADSS1, AHNAK2
+256 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+256 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+241 more
Copy number loss
See cases
GPathogenic
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