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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
SAMD15, SEL1L
+503 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+299 more
Copy number loss
See cases
GLikely pathogenic
COQ6, DNAL1
+58 more
Duplication
Primary ciliary dyskinesia 16
GUncertain significance
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ALDH6A1, BBOF1
+8 more
Deletion
Primary ciliary dyskinesia 16
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
ISCA2, TMEM30B
+158 more
Copy number gain
14q22.2q24.3 duplication
GLikely pathogenic
ABCD4, ACOT2
+38 more
Copy number loss
not provided
GLikely pathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
ACOT6, ACYP1
+59 more
Deletion
Multiple skeletal anomalies
+3 more
GLikely pathogenic
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