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

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

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285085	NM_000243.3(MEFV):c.2296A>C (p.Asn766His)	MEFV (N766H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GUncertain significance
Select item 2549	NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	MEFV (R761H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +5 more	GPathogenic/Likely pathogenic
Select item 2548	NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +7 more	GConflicting classifications of pathogenicity
Select item 2540	NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	MEFV (V726A)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +5 more	GPathogenic/Likely pathogenic
Select item 97500	NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	LOC126862264, MEFV (V722M)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +3 more	GConflicting classifications of pathogenicity
Select item 36508	NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 2539	NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +4 more	GPathogenic/Likely pathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +7 more	GPathogenic/Likely pathogenic
Select item 36507	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic
Select item 36505	NM_000243.3(MEFV):c.1764G>A (p.Pro588=)	LOC126862264, MEFV (G436R)	Single nucleotide variant (no sequence alteration +2 more)	not specified +3 more	GBenign
Select item 97458	NM_000243.3(MEFV):c.1760-4G>A	LOC126862264, MEFV (R433H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 97457	NM_000243.3(MEFV):c.1760-28T>A	LOC126862264, MEFV (F425Y)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 36503	NM_000243.3(MEFV):c.1530T>C (p.Asp510=)	MEFV	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 36502	NM_000243.3(MEFV):c.1518C>T (p.Ile506=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 97446	NM_000243.3(MEFV):c.1467G>A (p.Gln489=)	MEFV	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 378132	NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)	MEFV (V487L +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 2545	NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	MEFV (F479L +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 255615	NM_000243.3(MEFV):c.1428A>G (p.Gln476=)	MEFV	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 36500	NM_000243.3(MEFV):c.1422G>A (p.Glu474=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +5 more	GBenign
Select item 97435	NM_000243.3(MEFV):c.1245C>T (p.Val415=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 36497	NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)	MEFV (S339F +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
Select item 97557	NM_000243.3(MEFV):c.986G>A (p.Arg329His)	MEFV (R329H +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +5 more	GConflicting classifications of pathogenicity
Select item 97555	NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)	MEFV (E319K +1 more)	Single nucleotide variant (missense variant)	Acute febrile neutrophilic dermatosis +2 more	GConflicting classifications of pathogenicity
Select item 36515	NM_000243.3(MEFV):c.942C>T (p.Arg314=)	MEFV	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 36513	NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)	MEFV (G304R)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2544	NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	MEFV (T267I)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +5 more	GConflicting classifications of pathogenicity
Select item 97543	NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)	MEFV (E251K)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 664952	NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)	MEFV (S179N)	Single nucleotide variant (missense variant +1 more)	Acute febrile neutrophilic dermatosis +3 more	GConflicting classifications of pathogenicity
Select item 2543	NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	MEFV (E167D)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 36511	NM_000243.3(MEFV):c.495C>A (p.Ala165=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 2542	NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +8 more	GConflicting classifications of pathogenicity
Select item 36510	NM_000243.3(MEFV):c.414A>G (p.Gly138=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 195050	NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)	MEFV (L110P)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 36509	NM_000243.3(MEFV):c.306T>C (p.Asp102=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign
Select item 234347	NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)	MEFV (R42W)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1063261	NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys)	MEFV (Y19C)	Single nucleotide variant (missense variant)	Familial Mediterranean fever	GUncertain significance

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: 37