"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549	NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	MEFV (R761H)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +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)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 97485	NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	LOC126862264, MEFV (I692del)	Deletion	Familial Mediterranean fever +3 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)	Acute febrile neutrophilic dermatosis +6 more	GPathogenic
Select item 2550	NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GPathogenic
Select item 2545	NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	MEFV (F479L +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2551	NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	MEFV (P158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 +7 more	GConflicting classifications of pathogenicity
Select item 2685541	GRCh37/hg19 16p13.3(chr16:3282468-3467436)x1	MEFV, MTRNR2L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 564259	GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3	NAA60, MTRNR2L4 +15 more	Copy number gain	not provided	GUncertain significance
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic