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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXT1
(I625V)
Single nucleotide variant
(missense variant)
Chondrosarcoma
+2 more
GUncertain significance
EXT1
Single nucleotide variant
(synonymous variant)
Exostoses, multiple, type 1
+2 more
GLikely benign
EXT1
(L490fs)
Duplication
(frameshift variant)
Exostoses, multiple, type 1
+3 more
GPathogenic
EXT1
(L181fs)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic
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