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Items: 2

  • Ignored empty double quoted string.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MVK
(G336S +1 more)
Single nucleotide variant
(missense variant)
Hyperimmunoglobulin D with periodic fever
GLikely pathogenic
MVK
(V377I +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic