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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FMR1
Deletion
Fragile X syndrome
GPathogenic
FMR1, FRAXA
+2 more
Microsatellite
(5 prime UTR variant +1 more)
Fragile X syndrome
GPathogenic
Deletion
Smith-Magenis syndrome
GPathogenic
LOC126806366, LOC126806367
+4 more
Deletion
Intellectual disability, autosomal dominant 1
GPathogenic
Deletion
Intellectual disability, autosomal dominant 1
GPathogenic
LOC129934890, LOC129934891
+15 more
Deletion
Intellectual disability, autosomal dominant 1
GPathogenic
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