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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123493284, NPR3
(V83fs)
Deletion
(frameshift variant +1 more)
Boudin-Mortier syndrome
GPathogenic
NPR3
(D363V +3 more)
Single nucleotide variant
(missense variant)
Boudin-Mortier syndrome
GLikely pathogenic
NPR3
Deletion
(nonsense)
Boudin-Mortier syndrome
GPathogenic
LOC123493284, NPR3
(S148P)
Single nucleotide variant
(missense variant +1 more)
Boudin-Mortier syndrome
GLikely pathogenic
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