"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307086	NM_000431.3(MVK):c.-178A>G	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	Hyperimmunoglobulin D with periodic fever +4 more	GConflicting classifications of pathogenicity
Select item 234376	NM_000431.4(MVK):c.14T>C (p.Val5Ala)	MVK (V5A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
Select item 1694349	NM_000431.4(MVK):c.118C>T (p.Arg40Trp)	MVK (R40W)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	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 1694350	NM_000431.4(MVK):c.186G>C (p.Trp62Cys)	MVK (W62C)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694351	NM_000431.4(MVK):c.210G>T (p.Leu70=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +3 more	GConflicting classifications of pathogenicity
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 863857	NM_000431.4(MVK):c.298G>A (p.Asp100Asn)	MVK (D100N)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
Select item 837299	NM_000431.4(MVK):c.361C>T (p.Arg121Trp)	MVK (R121W)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
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 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 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 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 1016754	NM_000431.4(MVK):c.565G>T (p.Ala189Ser)	MVK (A137S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 97603	NM_000431.4(MVK):c.613A>G (p.Asn205Asp)	MVK (N205D +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1694352	NM_000431.4(MVK):c.647A>T (p.Tyr216Phe)	MVK (Y164F +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1301848	NM_000431.4(MVK):c.733G>T (p.Ala245Ser)	MVK (A193S +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1124041	NM_000431.4(MVK):c.747C>T (p.Gly249=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +3 more	GConflicting classifications of pathogenicity
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 97629	NM_000431.4(MVK):c.815C>T (p.Ser272Phe)	MVK (S272F +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 97631	NM_000431.4(MVK):c.830G>A (p.Arg277His)	MVK (R277H +1 more)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	GPathogenic/Likely pathogenic
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 1694353	NM_000431.4(MVK):c.843G>T (p.Glu281Asp)	MVK (E229D +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694354	NM_000431.4(MVK):c.873C>A (p.Tyr291Ter)	MVK (Y239* +1 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome	GLikely pathogenic
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 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 11934	NM_000431.4(MVK):c.928G>A (p.Val310Met)	MVK (V310M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
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 536578	NM_000431.4(MVK):c.975C>T (p.Arg325=)	MVK	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1694355	NM_000431.4(MVK):c.999C>T (p.Gly333=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +3 more	GConflicting classifications of pathogenicity
Select item 762863	NM_000431.4(MVK):c.1039+7C>T	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +3 more	GConflicting classifications of pathogenicity
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 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: 38