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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYROBP, LOC130064269
+2 more
Deletion
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Gnot provided
TYROBP
(M37fs +1 more)
Deletion
(frameshift variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GPathogenic/Likely pathogenic
TYROBP
(M1T)
Single nucleotide variant
(missense variant +2 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GPathogenic
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