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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTMR10, FAN1
(Y661del)
Deletion
(3 prime UTR variant +1 more)
Karyomegalic interstitial nephritis
GUncertain significance
ARHGAP11B, CHRNA7
+6 more
Copy number loss
not provided
GPathogenic
ARHGAP11A, ARHGAP11B
+9 more
Copy number gain
not provided
GLikely pathogenic
CHRFAM7A, ARHGAP11B
+8 more
Copy number gain
not provided
GPathogenic
CHRNA7, FAN1
+5 more
Copy number loss
not provided
GPathogenic
FAN1, CHRNA7
+5 more
Copy number loss
not provided
GPathogenic
APBA2, ARHGAP11B
+13 more
Copy number loss
not provided
GPathogenic
APBA2, ARHGAP11A
+47 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
APBA2, ARHGAP11B
+44 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
APBA2, ARHGAP11A
+50 more
Copy number loss
Prader-Willi syndrome
+1 more
GPathogenic
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