"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262246	NM_052845.4(MMAB):c.56G>A (p.Arg19His)	MMAB, MVK (R19H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 618212	NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)	MMAB, MVK (R15C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 439924	NM_000431.4(MVK):c.78+61A>G	MVK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 439921	NM_000431.4(MVK):c.79-164T>G	MVK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 579239	NM_000431.4(MVK):c.119G>A (p.Arg40Gln)	MVK (R40Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 618224	NM_000431.4(MVK):c.151C>T (p.Leu51Phe)	MVK (L51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129638	NM_000431.4(MVK):c.155G>A (p.Ser52Asn)	MMAB, MVK (S52N)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 883541	NM_000431.4(MVK):c.178C>T (p.Arg60Trp)	MVK (R60W)	Single nucleotide variant (missense variant)	Mevalonic aciduria +3 more	GUncertain significance
Select item 234378	NM_000431.4(MVK):c.226+4A>G	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +4 more	GConflicting classifications of pathogenicity
Select item 97578	NM_000431.4(MVK):c.238G>A (p.Val80Ile)	MVK (V80I)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +4 more	GConflicting classifications of pathogenicity
Select item 307094	NM_000431.4(MVK):c.331G>A (p.Ala111Thr)	MVK (A111T)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +3 more	GUncertain significance
Select item 256113	NM_000431.4(MVK):c.371+8C>T	MVK	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 439925	NM_000431.4(MVK):c.371+9G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	GLikely benign
Select item 307095	NM_000431.4(MVK):c.371+13T>C	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +3 more	GConflicting classifications of pathogenicity
Select item 138313	NM_000431.4(MVK):c.381G>A (p.Pro127=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign/Likely benign
Select item 129639	NM_000431.4(MVK):c.405G>A (p.Ser135=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign
Select item 993657	NM_000431.4(MVK):c.413C>T (p.Pro138Leu)	MVK (P138L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138314	NM_000431.4(MVK):c.441C>T (p.Ala147=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GConflicting classifications of pathogenicity
Select item 1093734	NM_000431.4(MVK):c.450G>C (p.Ser150=)	MVK	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 129640	NM_000431.4(MVK):c.510C>T (p.Asp170=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Hyperimmunoglobulin D with periodic fever +6 more	GBenign
Select item 1021956	NM_000431.4(MVK):c.512G>A (p.Gly171Glu)	MVK (G171E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 811072	NM_000431.4(MVK):c.519C>T (p.Cys173=)	MVK	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 791747	NM_000431.4(MVK):c.527+10G>A	MVK	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 97597	NM_000431.4(MVK):c.564G>A (p.Trp188Ter)	MVK (W188* +1 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +4 more	GPathogenic
Select item 138312	NM_000431.4(MVK):c.632-18A>G	MVK	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 439926	NM_000431.4(MVK):c.677+12del	MVK	Deletion (intron variant)	not specified +3 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 97620	NM_000431.4(MVK):c.769-7T>G	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +5 more	GBenign/Likely benign
Select item 307099	NM_000431.4(MVK):c.780C>A (p.Ile260=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +4 more	GBenign/Likely benign
Select item 11932	NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	MVK (I268T +1 more)	Single nucleotide variant (missense variant)	MVK-related disorder +7 more	GPathogenic
Select item 97632	NM_000431.4(MVK):c.831C>T (p.Arg277=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +6 more	GBenign
Select item 1135076	NM_000431.4(MVK):c.855C>T (p.Ala285=)	MVK	Single nucleotide variant (synonymous variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	GLikely benign
Select item 246330	NM_000431.4(MVK):c.876C>T (p.Leu292=)	MVK	Single nucleotide variant (synonymous variant)	Porokeratosis 3, disseminated superficial actinic type +5 more	GConflicting classifications of pathogenicity
Select item 439923	NM_000431.4(MVK):c.885+24G>A	MVK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 193585	NM_000431.4(MVK):c.924C>T (p.Leu308=)	MVK	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 811196	NM_000431.4(MVK):c.945G>A (p.Leu315=)	MVK	Single nucleotide variant (synonymous variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	GConflicting classifications of pathogenicity
Select item 811328	NM_000431.4(MVK):c.974G>A (p.Arg325His)	MVK (R273H +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
Select item 11930	NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	MVK (A334T +1 more)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	GPathogenic
Select item 578204	NM_000431.4(MVK):c.1051C>T (p.Pro351Ser)	MVK (P351S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 993547	NM_000431.4(MVK):c.1128C>T (p.Gly376=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +4 more	GBenign/Likely benign
Select item 11929	NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	MVK (V377I +1 more)	Single nucleotide variant (missense variant)	MVK-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 97569	NM_000431.4(MVK):c.1139A>G (p.His380Arg)	MVK (H380R +1 more)	Single nucleotide variant (missense variant)	Mevalonic aciduria +4 more	GPathogenic/Likely pathogenic
Select item 97571	NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)	MVK (D386N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 43