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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACHE, ACTL6B
+300 more
Copy number gain
See cases
GPathogenic
ACHE, ACTL6B
+228 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
ZAN
(P49L)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
ZAN
(S731P)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ZAN
(L773P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign/Likely benign
ZAN
(C1903Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ZAN
(A2511V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
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