"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262247	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign
Select item 11931	NM_000431.4(MVK):c.59A>C (p.His20Pro)	MVK (H20P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
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 97576	NM_000431.4(MVK):c.185G>A (p.Trp62Ter)	MVK (W62*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
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 256113	NM_000431.4(MVK):c.371+8C>T	MVK	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
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 39725	NM_000431.4(MVK):c.500C>T (p.Pro167Leu)	MVK (P167L)	Single nucleotide variant (missense variant +1 more)	Hyperimmunoglobulin D with periodic fever +3 more	GPathogenic/Likely pathogenic
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 97599	NM_000431.4(MVK):c.591C>T (p.His197=)	MVK	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 138312	NM_000431.4(MVK):c.632-18A>G	MVK	Single nucleotide variant (intron variant)	not specified +4 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 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 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 97636	NM_000431.4(MVK):c.877G>A (p.Val293Met)	MVK (V293M +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
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 97637	NM_000431.4(MVK):c.925G>A (p.Gly309Ser)	MVK (G309S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21