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
Duplication	NM_024529.5(CDC73):c.483dup (p.Glu162fs)	CDC73	Pathogenic	1	193107271	193107272	C	CA	criteria provided, single submitter	ClinGen:CA658795575
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.3G>T (p.Met1Ile)	CDC73	Pathogenic	1	193091333	193091333	G	T	criteria provided, single submitter	ClinGen:CA343972728
single nucleotide variant	NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)	CDC73	Pathogenic/Likely pathogenic	1	193104672	193104672	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343960611
Deletion	NM_024529.5(CDC73):c.1052del (p.Pro351fs)	CDC73	Pathogenic	1	193181212	193181212	TC	T	criteria provided, single submitter	ClinGen:CA658656978
single nucleotide variant	NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)	CDC73	Pathogenic	1	193107296	193107296	C	T	criteria provided, single submitter	ClinGen:CA343961378
Deletion	NC_000001.11:g.(?_193130168)_(193135595_?)del	CDC73	Likely pathogenic	1	193099298	193104725	na	na	criteria provided, single submitter	-
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_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.238-2A>T	CDC73	Pathogenic	1	193099302	193099302	A	T	criteria provided, single submitter	ClinGen:CA16617031