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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
LOC126863293, LOC126863294
+478 more
Copy number gain
See cases
GPathogenic
ARMCX1, ARMCX4
+10 more
Copy number loss
See cases
GPathogenic
LOC130068494, TIMM8A
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
LOC130068494, TIMM8A
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
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