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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOG
(R204Q)
Single nucleotide variant
(missense variant)
Tarsal-carpal coalition syndrome
+1 more
GConflicting classifications of pathogenicity
NOG
(P35R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
NOG
(R204L)
Single nucleotide variant
(missense variant)
Tarsal-carpal coalition syndrome
GPathogenic
NOG
(Y222C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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