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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
CASP8, LOC128772255
(M1T)
Single nucleotide variant
(missense variant +4 more)
not specified
+1 more
GBenign
LOC128772255, CASP8
(K14R)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GBenign
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