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.1810G>A (p.Glu604Lys)	CASR	Pathogenic	3	122002611	122002611	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119533,OMIM:601199.0041
single nucleotide variant	NM_000388.4(CASR):c.374T>C (p.Leu125Pro)	CASR	Pathogenic/Likely pathogenic	3	121976116	121976116	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119525,OMIM:601199.0037
single nucleotide variant	NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	CASR	Pathogenic	3	121980435	121980435	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119523,OMIM:601199.0036
single nucleotide variant	NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	CASR	Likely pathogenic	3	122003329	122003329	C	A	criteria provided, single submitter	ClinGen:CA119519,OMIM:601199.0034
single nucleotide variant	NM_000388.4(CASR):c.186-1G>T	CASR	Pathogenic	3	121975927	121975927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA212893,OMIM:601199.0033
single nucleotide variant	NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	CASR	Pathogenic	3	122002743	122002743	C	T	criteria provided, single submitter	ClinGen:CA119517,OMIM:601199.0032
single nucleotide variant	NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	CASR	Likely pathogenic	3	122003442	122003442	T	C	criteria provided, single submitter	ClinGen:CA119515,OMIM:601199.0031
single nucleotide variant	NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)	CASR	Pathogenic	3	122003164	122003164	T	G	criteria provided, single submitter	ClinGen:CA119509,OMIM:601199.0027
single nucleotide variant	NM_000388.4(CASR):c.196C>T (p.Arg66Cys)	CASR	Pathogenic/Likely pathogenic	3	121975938	121975938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119507,OMIM:601199.0026
single nucleotide variant	NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	CASR	Pathogenic	3	121976170	121976170	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119503,OMIM:601199.0024