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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTDSS1
(P92L)
Single nucleotide variant
(missense variant +1 more)
Lenz-Majewski hyperostosis syndrome
GUncertain significance
PTDSS1
(G229D +1 more)
Single nucleotide variant
(missense variant)
Lenz-Majewski hyperostosis syndrome
GUncertain significance
PTDSS1
(S137F +1 more)
Single nucleotide variant
(missense variant)
Lenz-Majewski hyperostosis syndrome
GLikely pathogenic
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