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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+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
ADSS1, AK7
+662 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+754 more
Copy number loss
See cases
GPathogenic
IGHD3-22, IGHD3-3
+670 more
Copy number gain
See cases
GPathogenic
LINC00677, LINC01550
+666 more
Copy number loss
See cases
GPathogenic
LOC130056627, LOC130056628
+653 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+631 more
Copy number loss
See cases
GPathogenic
MIR494, MIR495
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
LOC130056617, LOC130056618
+571 more
Copy number loss
See cases
GPathogenic
LOC130056492, LOC130056485
+561 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+441 more
Copy number loss
See cases
GPathogenic
LINC00605, LINC00677
+416 more
Copy number loss
See cases
GPathogenic
LOC105378183, LOC112163684
+164 more
Copy number loss
See cases
GPathogenic
BRF1, ADSS1
+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
ADSS1, AHNAK2
+367 more
Copy number loss
See cases
GPathogenic
MIR4710, MIR5195
+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
LOC130056667, LOC130056668
+241 more
Copy number loss
See cases
GPathogenic
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