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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993645, LOC129993646
+419 more
Copy number loss
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GPathogenic
AHRR, BRD9
+212 more
Copy number loss
See cases
GPathogenic
LOC129993633, LOC129993634
+532 more
Copy number loss
See cases
GPathogenic
AHRR, BRD9
+211 more
Copy number loss
See cases
GPathogenic
LOC129993624, LOC129993625
+559 more
Copy number loss
See cases
GPathogenic
LOC132089296, LOC132089297
+139 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+553 more
Copy number loss
See cases
GPathogenic
AHRR, BRD9
+202 more
Copy number loss
See cases
GPathogenic
LOC129993692, LOC129993693
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+478 more
Copy number loss
See cases
GPathogenic
LOC132089252, LOC132089253
+75 more
Copy number loss
See cases
GLikely benign
AHRR, BRD9
+196 more
Copy number gain
See cases
GUncertain significance
AHRR, BRD9
+172 more
Copy number gain
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
+231 more
Copy number loss
See cases
GPathogenic
AHRR, BRD9
+99 more
Copy number loss
See cases
GUncertain significance
ADAMTS16, ADAMTS16-DT
+537 more
Copy number loss
See cases
GPathogenic
LOC132090721, LOC132090722
+556 more
Copy number loss
See cases
GPathogenic
AHRR, BRD9
+199 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+384 more
Copy number loss
See cases
GPathogenic
LOC126807286, LOC126807287
+384 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
LOC112997550, LOC112997551
+462 more
Copy number gain
See cases
GPathogenic
AHRR, BRD9
+127 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+473 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+606 more
Copy number loss
See cases
GPathogenic
LOC132089294, LOC132089295
+113 more
Copy number gain
See cases
GUncertain significance
LOC126807328, LOC126807329
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+388 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
+318 more
Copy number loss
See cases
GPathogenic
AHRR, BRD9
+194 more
Copy number loss
See cases
GPathogenic
LOC129993559, LOC129993560
+384 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+538 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+272 more
Copy number loss
See cases
GPathogenic
AHRR, BRD9
+190 more
Copy number loss
See cases
GPathogenic
AHRR, BRD9
+150 more
Copy number loss
See cases
GPathogenic
LOC129993643, LOC129993644
+521 more
Copy number loss
See cases
GPathogenic
LOC132090723, LOC132090724
+182 more
Copy number loss
See cases
GPathogenic
AHRR, BRD9
+180 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+461 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
AHRR, BRD9
+196 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+461 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+226 more
Copy number loss
See cases
GPathogenic
LINC02116, LINC02120
+696 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+227 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+443 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+300 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+231 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+657 more
Copy number loss
See cases
GPathogenic
AHRR, CCDC127
+88 more
Copy number gain
See cases
GUncertain significance
AHRR, EXOC3
+50 more
Copy number gain
See cases
GBenign
AHRR, EXOC3
+49 more
Copy number loss
See cases
GBenign
AHRR, BRD9
+84 more
Copy number gain
See cases
GUncertain significance
AHRR, EXOC3
+39 more
Copy number gain
See cases
GBenign
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