家族性副甲状腺機能亢進症 (MEN以外)

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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
Deletion	NM_000388.4(CASR):c.554del (p.Arg185fs)	CASR	Pathogenic/Likely pathogenic	3	121980436	121980436	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA213603
single nucleotide variant	NM_000388.4(CASR):c.577C>T (p.Gln193Ter)	CASR	Pathogenic	3	121980459	121980459	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617814
single nucleotide variant	NM_000388.4(CASR):c.643G>C (p.Asp215His)	CASR	Likely pathogenic	3	121980525	121980525	G	C	criteria provided, single submitter	ClinGen:CA213604
single nucleotide variant	NM_000388.4(CASR):c.649G>T (p.Asp217Tyr)	CASR	Likely pathogenic	3	121980531	121980531	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151047
single nucleotide variant	NM_000388.4(CASR):c.652T>G (p.Tyr218Asp)	CASR	Pathogenic	3	121980534	121980534	T	G	criteria provided, single submitter	ClinGen:CA16604347
single nucleotide variant	NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	CASR	Pathogenic	3	121980540	121980540	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151065
single nucleotide variant	NM_000388.4(CASR):c.659G>A (p.Arg220Gln)	CASR	Likely pathogenic	3	121980541	121980541	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151067
single nucleotide variant	NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	CASR	Pathogenic	3	121980544	121980544	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA144609,OMIM:601199.0052
single nucleotide variant	NM_000388.4(CASR):c.679C>G (p.Arg227Gly)	CASR	Likely pathogenic	3	121980561	121980561	C	G	criteria provided, single submitter	ClinGen:CA354151111
single nucleotide variant	NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	CASR	Pathogenic/Likely pathogenic	3	121980561	121980561	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151112