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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36505	NM_000243.3(MEFV):c.1764G>A (p.Pro588=)	LOC126862264, MEFV (G436R)	Single nucleotide variant (no sequence alteration +2 more)	Familial Mediterranean fever, autosomal dominant +3 more	GBenign
Select item 439880	NM_000243.3(MEFV):c.1760-30T>A	LOC126862264, MEFV (D424E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1283517	NM_000243.3(MEFV):c.1759+99del	LOC126862264, MEFV	Deletion (intron variant)	not specified +1 more	GBenign
Select item 676934	NM_000243.3(MEFV):c.1611-90C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +3 more	GBenign
Select item 439879	NM_000243.3(MEFV):c.1610+96C>T	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +3 more	GBenign
Select item 439878	NM_000243.3(MEFV):c.1588-69G>A	MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever +3 more	GBenign
Select item 36503	NM_000243.3(MEFV):c.1530T>C (p.Asp510=)	MEFV	Single nucleotide variant (synonymous variant)	Familial Mediterranean fever, autosomal dominant +5 more	GBenign
Select item 255615	NM_000243.3(MEFV):c.1428A>G (p.Gln476=)	MEFV	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 667831	NM_000243.3(MEFV):c.1356+267C>T	MEFV	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 993989	NM_000243.3(MEFV):c.1356+44A>G	MEFV	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 2628108	NM_000243.3(MEFV):c.911-2117T>C	MEFV	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 36512	NM_000243.3(MEFV):c.605G>A (p.Arg202Gln)	MEFV (R202Q)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign
Select item 36511	NM_000243.3(MEFV):c.495C>A (p.Ala165=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +5 more	GBenign
Select item 36510	NM_000243.3(MEFV):c.414A>G (p.Gly138=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +6 more	GBenign/Likely benign
Select item 36509	NM_000243.3(MEFV):c.306T>C (p.Asp102=)	MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +5 more	GBenign