C0398691[trait identifier] AND "Laboratorio de Genetica e Diagnostico - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683508	NM_000431.4(MVK):c.62C>T (p.Ala21Val)	MVK (A21V)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever	GLikely pathogenic
Select item 943304	NM_000431.4(MVK):c.79-2A>G	MVK	Single nucleotide variant (splice acceptor variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely pathogenic
Select item 97581	NM_000431.4(MVK):c.346T>C (p.Tyr116His)	MVK (Y116H)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +4 more	GPathogenic/Likely pathogenic
Select item 2431699	NM_000431.4(MVK):c.533C>T (p.Thr178Ile)	MVK (T126I +1 more)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever	GUncertain significance
Select item 97612	NM_000431.4(MVK):c.709A>T (p.Thr237Ser)	MVK (T237S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 11929	NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	MVK (V377I +1 more)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +8 more	GPathogenic/Likely pathogenic

ClinVar