"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439924	NM_000431.4(MVK):c.78+61A>G	MVK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1265816	NM_000431.4(MVK):c.226+105C>T	MVK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2628151	NM_000431.4(MVK):c.227-660T>A	MVK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628189	NM_000431.4(MVK):c.227-655T>A	MVK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628138	NM_000431.4(MVK):c.227-482T>C	MVK	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 129640	NM_000431.4(MVK):c.510C>T (p.Asp170=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +6 more	GBenign
Select item 138312	NM_000431.4(MVK):c.632-18A>G	MVK	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 439922	NM_000431.4(MVK):c.769-38C>T	MVK	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 439923	NM_000431.4(MVK):c.885+24G>A	MVK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 307102	NM_000431.4(MVK):c.*58dup	MVK	Duplication (3 prime UTR variant)	Porokeratosis 3, disseminated superficial actinic type +4 more	GBenign/Likely benign