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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993633, LOC129993634
+532 more
Copy number loss
See cases
GPathogenic
LOC129993624, LOC129993625
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+553 more
Copy number loss
See cases
GPathogenic
LOC129993692, LOC129993693
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+697 more
Copy number loss
See cases
GPathogenic
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LOC126807323, LOC126807324
+530 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+537 more
Copy number loss
See cases
GPathogenic
LOC132090721, LOC132090722
+556 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+542 more
Copy number gain
See cases
GPathogenic
LOC108254683, LOC110120635
+559 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+606 more
Copy number loss
See cases
GPathogenic
LOC126807328, LOC126807329
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+642 more
Copy number gain
See cases
GPathogenic
LOC129993561, LOC129993562
+552 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+538 more
Copy number loss
See cases
GPathogenic
LOC129993643, LOC129993644
+521 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+574 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
LINC02116, LINC02120
+696 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+657 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
LOC126807306, LOC126807307
+304 more
Copy number loss
See cases
GPathogenic
ANKH, BASP1
+123 more
Copy number loss
See cases
GPathogenic
ANKH, BASP1
+142 more
Copy number loss
See cases
GPathogenic
BASP1, BASP1-AS1
+41 more
Copy number loss
See cases
GUncertain significance
LINC02223
Copy number loss
See cases
GUncertain significance
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