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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC111822949, LOC112272574
+664 more
Copy number gain
See cases
GPathogenic
LOC130057971, LOC130057972
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC130057962, LOC130057963
+517 more
Copy number gain
See cases
GPathogenic
LOC130058025, LOC130058026
+500 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+228 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+224 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+205 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+218 more
Copy number gain
See cases
GPathogenic
LOC130058035, LOC130058036
+202 more
Copy number loss
See cases
GPathogenic
LOC126862250, LOC126862251
+203 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+201 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+195 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+185 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+179 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+174 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ARRDC4
+111 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+171 more
Copy number loss
See cases
GPathogenic
IGF1R, IRAIN
+48 more
Copy number gain
See cases
GUncertain significance
IGF1R, IRAIN
+24 more
Copy number gain
See cases
GUncertain significance
ADAMTS17, ALDH1A3
+165 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+159 more
Copy number loss
See cases
GPathogenic
IGF1R, LOC110121464
+5 more
Copy number gain
See cases
GLikely pathogenic
IGF1R, LOC125146365
+15 more
Copy number gain
See cases
GUncertain significance
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