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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSMO1
(G115R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
GPathogenic
MSMO1
(Y244C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
MSMO1
(H173Q +1 more)
Single nucleotide variant
(missense variant)
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
GPathogenic
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