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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MBTPS2, YY2
Single nucleotide variant
(5 prime UTR variant +1 more)
Olmsted syndrome, X-linked
+3 more
GUncertain significance
MBTPS2
(G176E)
Single nucleotide variant
(missense variant)
Olmsted syndrome, X-linked
+3 more
GUncertain significance
MBTPS2
(R59C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, type 19
GUncertain significance
MBTPS2
(L505F)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, type 19
GPathogenic
MBTPS2
(N459S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, type 19
GPathogenic
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