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.396_410del (p.Glu133_Ser137del)	CASR	Pathogenic	3	121976135	121976149	GCTCAGAGCACATTCC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000388.4(CASR):c.413C>T (p.Thr138Met)	CASR	Likely pathogenic	3	121976155	121976155	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119501,OMIM:601199.0023
single nucleotide variant	NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	CASR	Likely pathogenic	3	121976169	121976169	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569467
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
single nucleotide variant	NM_000388.4(CASR):c.452C>T (p.Thr151Met)	CASR	Pathogenic	3	121976194	121976194	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119485,OMIM:601199.0012
single nucleotide variant	NM_000388.4(CASR):c.493-2A>G	CASR	Likely pathogenic	3	121980373	121980373	A	G	criteria provided, single submitter	-
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.532A>G (p.Asn178Asp)	CASR	Pathogenic/Likely pathogenic	3	121980414	121980414	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611083
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.554G>A (p.Arg185Gln)	CASR	Pathogenic	3	121980436	121980436	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119471,OMIM:601199.0003