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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121466733, LOC121468000
+2048 more
Copy number loss
See cases
GPathogenic
LOC130010147, LOC130010148
+2049 more
Copy number gain
See cases
GPathogenic
LOC130009360, LOC130009361
+2047 more
Copy number gain
See cases
GPathogenic
LOC130009909, LOC130009910
+2044 more
Copy number gain
See cases
GPathogenic
LINC00333, LINC00343
+2045 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2040 more
Copy number gain
See cases
GPathogenic
LOC121838573, LOC121838574
+2028 more
Copy number gain
See cases
GPathogenic
URAD, USP12
+2024 more
Copy number gain
See cases
GPathogenic
LINC00462, LINC00463
+2021 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
SIAH3, SLAIN1
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+1288 more
Copy number gain
See cases
GPathogenic
LINC00550, LINC00552
+1268 more
Copy number gain
See cases
GPathogenic
ACOD1, ALG11
+657 more
Copy number loss
See cases
GPathogenic
DCT, GPC5
+121 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+706 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+705 more
Copy number gain
See cases
GPathogenic
LOC130010067, LOC130010068
+344 more
Copy number gain
See cases
GPathogenic
LOC132090867, MBNL2
+663 more
Copy number gain
See cases
GPathogenic
GPC5, GPC5-AS1
+52 more
Copy number loss
See cases
GLikely pathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+236 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+168 more
Copy number loss
See cases
GPathogenic
LOC130009970, LOC130009971
+638 more
Copy number gain
See cases
GPathogenic
ABCC4, CLDN10
+88 more
Copy number loss
See cases
GPathogenic
GPC5, GPC5-AS1
+18 more
Copy number loss
See cases
GUncertain significance
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