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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
MPZL3, MSANTD2
+769 more
Copy number gain
See cases
GPathogenic
LOC129390375, LOC129390376
+764 more
Copy number gain
See cases
GPathogenic
POU2F3, PRDM10
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
LOC130007028, LOC130007029
+608 more
Duplication
Schizophrenia
GLikely pathogenic
ACAD8, ACRV1
+551 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+549 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
LOC130007011, LOC130007012
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
ST14, ST3GAL4
+368 more
Copy number loss
See cases
GPathogenic
LOC130007071, LOC130007072
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
LOC112061823, LOC112067710
+352 more
Copy number loss
See cases
GPathogenic
TMEM218, TMEM45B
+343 more
Copy number loss
See cases
GPathogenic
LOC130007029, LOC130007030
+312 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+299 more
Copy number loss
See cases
GPathogenic
FOXRED1, GLB1L2
+266 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+265 more
Copy number loss
See cases
GPathogenic
LOC121392949, LOC121392950
+261 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+239 more
Copy number gain
See cases
GPathogenic
ACAD8, ADAMTS15
+222 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+221 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+220 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+145 more
Copy number loss
See cases
GPathogenic
ACAD8, ADAMTS15
+123 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+99 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+88 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+65 more
Copy number loss
See cases
GUncertain significance
ACAD8, B3GAT1
+62 more
Copy number loss
See cases
GPathogenic
ACAD8, B3GAT1
+60 more
Copy number loss
See cases
GLikely pathogenic
ACAD8, B3GAT1
+25 more
Copy number loss
See cases
GPathogenic
B3GAT1-DT, LINC02706
+5 more
Copy number gain
See cases
GBenign
B3GAT1-DT, LINC02697
+10 more
Copy number loss
See cases
GPathogenic
B3GAT1-DT, LINC02706
+5 more
Copy number gain
See cases
GBenign
B3GAT1-DT, LINC02706
+4 more
Duplication
Large for gestational age
Gnot provided
B3GAT1-DT, LINC02706
+3 more
Copy number loss
See cases
GLikely benign
B3GAT1-DT, LINC02706
+4 more
Copy number gain
See cases
GBenign
LINC02706, LINC02714
+3 more
Copy number gain
See cases
GBenign
LINC02706, LINC02714
+3 more
Copy number gain
See cases
GBenign
LINC02706, LINC02714
+3 more
Copy number gain
See cases
GBenign
LINC02706, LINC02714
+3 more
Copy number gain
See cases
GBenign
LINC02697, LINC02706
+8 more
Copy number loss
See cases
GBenign
LINC02706, LINC02714
+2 more
Copy number gain
See cases
GBenign
LINC02706, LINC02714
+3 more
Copy number gain
See cases
GBenign
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