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.577C>T (p.Gln193Ter)	CASR	Pathogenic	3	121980459	121980459	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617814
Indel	NM_000388.4(CASR):c.2154delinsCC (p.Trp718fs)	CASR	Pathogenic	3	122002955	122002955	G	CC	criteria provided, single submitter	ClinGen:CA16617818
single nucleotide variant	NM_000388.4(CASR):c.679C>G (p.Arg227Gly)	CASR	Likely pathogenic	3	121980561	121980561	C	G	criteria provided, single submitter	ClinGen:CA354151111
single nucleotide variant	NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)	CDC73	Pathogenic	1	193091415	193091415	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343972911
single nucleotide variant	NM_024529.5(CDC73):c.423+1G>A	CDC73	Pathogenic	1	193104720	193104720	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA343960811
single nucleotide variant	NM_000388.4(CASR):c.649G>T (p.Asp217Tyr)	CASR	Likely pathogenic	3	121980531	121980531	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151047
single nucleotide variant	NM_000388.4(CASR):c.1837G>A (p.Gly613Arg)	CASR	Likely pathogenic	3	122002638	122002638	G	A	criteria provided, single submitter	ClinGen:CA354157556
Deletion	NM_000388.4(CASR):c.3010del (p.Ser1004fs)	CASR	Pathogenic	3	122003811	122003811	CA	C	criteria provided, single submitter	ClinGen:CA645369338
single nucleotide variant	NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	CASR	Pathogenic	3	121980540	121980540	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151065
single nucleotide variant	NM_000388.4(CASR):c.1673A>G (p.Glu558Gly)	CASR	Likely pathogenic	3	122001024	122001024	A	G	criteria provided, single submitter	ClinGen:CA354156245