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
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
Deletion	NM_000388.4(CASR):c.2101del (p.Arg701fs)	CASR	Pathogenic	3	122002901	122002901	AC	A	criteria provided, single submitter	ClinGen:CA658657329
Deletion	NM_000388.4(CASR):c.1849del (p.Thr617fs)	CASR	Pathogenic	3	122002650	122002650	CA	C	criteria provided, single submitter	ClinGen:CA658657327
Deletion	NM_000388.4(CASR):c.823_824del (p.Asp275fs)	CASR	Likely pathogenic	3	121980704	121980705	CAG	C	criteria provided, single submitter	ClinGen:CA658657326
single nucleotide variant	NM_000388.4(CASR):c.1673A>G (p.Glu558Gly)	CASR	Likely pathogenic	3	122001024	122001024	A	G	criteria provided, single submitter	ClinGen:CA354156245
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
Deletion	NM_000388.4(CASR):c.3010del (p.Ser1004fs)	CASR	Pathogenic	3	122003811	122003811	CA	C	criteria provided, single submitter	ClinGen:CA645369338
single nucleotide variant	NM_000388.4(CASR):c.1837G>A (p.Gly613Arg)	CASR	Likely pathogenic	3	122002638	122002638	G	A	criteria provided, single submitter	ClinGen:CA354157556
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.679C>G (p.Arg227Gly)	CASR	Likely pathogenic	3	121980561	121980561	C	G	criteria provided, single submitter	ClinGen:CA354151111