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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(E38fs +1 more)
Deletion
(frameshift variant +1 more)
Bulbar palsy
+11 more
GLikely pathogenic
ADSL
(R141W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
ADSL
(Y114H +1 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
+7 more
GPathogenic
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