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.514A>G (p.Arg172Gly)	CASR	Pathogenic	3	121980396	121980396	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604425
single nucleotide variant	NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	CASR	Pathogenic	3	122003458	122003458	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604355,LOVD 3:CASR_00066,OMIM:601199.0054
single nucleotide variant	NM_000388.4(CASR):c.1750A>T (p.Lys584Ter)	CASR	Likely pathogenic	3	122002551	122002551	A	T	criteria provided, single submitter	ClinGen:CA16604350
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.2449G>A (p.Val817Ile)	CASR	Likely pathogenic	3	122003250	122003250	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043395
single nucleotide variant	NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	CASR	Likely pathogenic	3	121981065	121981065	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042449
single nucleotide variant	NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	CASR	Pathogenic/Likely pathogenic	3	121973109	121973109	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569414
single nucleotide variant	NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)	CASR	Pathogenic	3	122000981	122000981	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602891
Duplication	NM_000388.4(CASR):c.108dup (p.Leu37fs)	CASR	Pathogenic	3	121973138	121973139	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602870
single nucleotide variant	NM_000388.4(CASR):c.2364C>G (p.Phe788Leu)	CASR	Pathogenic	3	122003165	122003165	C	G	criteria provided, single submitter	ClinGen:CA10602865