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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAQ
(R183G)
Single nucleotide variant
(missense variant)
Familial multiple nevi flammei
GPathogenic
GNAQ
(Q209H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GNAQ
(Q209H)
Single nucleotide variant
(missense variant)
Familial multiple nevi flammei
+1 more
GPathogenic
GNAQ
(R183Q)
Single nucleotide variant
(missense variant)
GNAQ-related disorder
+8 more
GPathogenic/Likely pathogenic
OOncogenic
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