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.1657G>A (p.Gly553Arg)	CASR	Likely pathogenic	3	122001008	122001008	G	A	criteria provided, single submitter	ClinGen:CA119547,OMIM:601199.0048
Deletion	NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)	CASR	Likely pathogenic	3	121994792	121994795	GTGTT	G	criteria provided, single submitter	ClinGen:CA213563
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
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.1676C>A (p.Pro559His)	CASR	Likely pathogenic	3	122001027	122001027	C	A	criteria provided, single submitter	ClinGen:CA213567
single nucleotide variant	NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)	CASR	Likely pathogenic	3	122001036	122001036	G	C	criteria provided, single submitter	ClinGen:CA213569
Deletion	NM_000388.4(CASR):c.1884del (p.Phe629fs)	CASR	Likely pathogenic	3	122002684	122002684	GC	G	criteria provided, single submitter	ClinGen:CA213574
single nucleotide variant	NM_000388.4(CASR):c.1934C>A (p.Ala645Asp)	CASR	Likely pathogenic	3	122002735	122002735	C	A	criteria provided, single submitter	ClinGen:CA213575
single nucleotide variant	NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)	CASR	Likely pathogenic	3	122002815	122002815	C	A	criteria provided, single submitter	ClinGen:CA213577
single nucleotide variant	NM_000388.4(CASR):c.2243C>A (p.Pro748Gln)	CASR	Likely pathogenic	3	122003044	122003044	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA213582