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_024529.5(CDC73):c.109A>T (p.Lys37Ter)	CDC73	Pathogenic	1	193091439	193091439	A	T	criteria provided, single submitter	ClinGen:CA10588273
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
Deletion	NM_024529.5(CDC73):c.53_54del (p.Ile18fs)	CDC73	Pathogenic	1	193091383	193091384	ATT	A	criteria provided, single submitter	-
single nucleotide variant	NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)	CDC73	Pathogenic	1	193091355	193091355	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252644,OMIM:607393.0002
Duplication	NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs)	CDC73	Pathogenic	1	193091339	193091340	C	CGTGCTTAGCGTCCTGCGACA	criteria provided, single submitter	-
single nucleotide variant	NM_024529.5(CDC73):c.3G>T (p.Met1Ile)	CDC73	Pathogenic	1	193091333	193091333	G	T	criteria provided, single submitter	ClinGen:CA343972728
Deletion	NM_024529.5(CDC73):c.4del (p.Ala2fs)	CDC73	Pathogenic	1	193091333	193091333	TG	T	criteria provided, single submitter	ClinGen:CA16609960
single nucleotide variant	NM_024529.5(CDC73):c.2T>C (p.Met1Thr)	CDC73	Pathogenic	1	193091332	193091332	T	C	criteria provided, single submitter	ClinGen:CA343972725
single nucleotide variant	NM_024529.5(CDC73):c.1A>G (p.Met1Val)	CDC73	Likely pathogenic	1	193091331	193091331	A	G	criteria provided, single submitter	-
Duplication	NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs)	TRPV6	Pathogenic	7	142574968	142574969	G	GGCAA	criteria provided, multiple submitters, no conflicts	OMIM:606680.0001