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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP107
(R326H +1 more)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 6
GPathogenic/Likely pathogenic
NUP107
(R118H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GLikely benign
NUP107
(D447N +1 more)
Single nucleotide variant
(missense variant)
Ovarian dysgenesis 6
GPathogenic
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