家族性地中海熱

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	MEFV	Pathogenic/Likely pathogenic	16	3293407	3293407	T	C	criteria provided, multiple submitters, no conflicts	OMIM:608107.0001,ClinGen:CA280091,UniProtKB:O15553#VAR_009062,ClinVar:1802172
single nucleotide variant	NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	MEFV	Pathogenic/Likely pathogenic	16	3293405	3293405	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280093,UniProtKB:O15553#VAR_009061,OMIM:608107.0002,OMIM:608107.0018,ClinVar:2555
single nucleotide variant	NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	MEFV	Pathogenic/Likely pathogenic	16	3293310	3293310	A	G	criteria provided, multiple submitters, no conflicts	OMIM:608107.0003,ClinGen:CA280095,UniProtKB:O15553#VAR_009065,ClinVar:1802172
single nucleotide variant	NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	MEFV	Pathogenic/Likely pathogenic	16	3293205	3293205	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280110,UniProtKB:O15553#VAR_009067,OMIM:608107.0012
single nucleotide variant	NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	MEFV	Pathogenic	16	3293447	3293447	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280112,UniProtKB:O15553#VAR_028343,OMIM:608107.0013
single nucleotide variant	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	MEFV	Pathogenic	16	3293447	3293447	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA280267,UniProtKB:O15553#VAR_028343,OMIM:608107.0004
single nucleotide variant	NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)	MEFV	Pathogenic	16	3304342	3304342	G	T	criteria provided, single submitter	ClinGen:CA280647
single nucleotide variant	NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)	MEFV	Likely pathogenic	16	3293447	3293447	C	A	criteria provided, single submitter	ClinGen:CA10577519,UniProtKB:O15553#VAR_028343
Indel	NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val)	MEFV	Pathogenic	16	3293405	3293407	CAT	TAC	criteria provided, single submitter	ClinGen:CA658656509