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
Deletion	NM_000388.4(CASR):c.166del (p.Glu56fs)	CASR	Pathogenic/Likely pathogenic	3	121973201	121973201	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA213566
single nucleotide variant	NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	CASR	Pathogenic/Likely pathogenic	3	121994806	121994806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA213564
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.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.2383C>T (p.Arg795Trp)	CASR	Pathogenic/Likely pathogenic	3	122003184	122003184	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119467,OMIM:601199.0001
single nucleotide variant	NM_024529.5(CDC73):c.131+1G>A	CDC73	Pathogenic/Likely pathogenic	1	193091462	193091462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116128,OMIM:607393.0010
Deletion	NC_000001.11:g.(?_193122191)_(193250722_?)del	CDC73	Pathogenic	1	193091321	193219852	na	na	criteria provided, single submitter	-
Deletion	NM_024529.5(CDC73):c.1247del (p.Gly416fs)	CDC73	Pathogenic	1	193202211	193202211	AG	A	criteria provided, single submitter	-
Deletion	NM_024529.5(CDC73):c.718del (p.Ser240fs)	CDC73	Pathogenic	1	193111183	193111183	CA	C	criteria provided, single submitter	-