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
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
Indel	NM_024529.5(CDC73):c.375_376delinsT (p.Lys125fs)	CDC73	Pathogenic	1	193104671	193104672	AC	T	criteria provided, single submitter	-
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
single nucleotide variant	NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)	CDC73	Pathogenic	1	193104571	193104571	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024529.5(CDC73):c.355C>T (p.Gln119Ter)	CDC73	Pathogenic	1	193104568	193104568	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602772
Deletion	NC_000001.11:g.(?_193130174)_(193130243_?)del	CDC73	Pathogenic	1	193099304	193099373	na	na	criteria provided, single submitter	-
Deletion	NM_024529.5(CDC73):c.245del (p.Asn82fs)	CDC73	Pathogenic	1	193099308	193099308	GA	G	criteria provided, single submitter	ClinGen:CA16609946
single nucleotide variant	NM_024529.5(CDC73):c.238-2A>T	CDC73	Pathogenic	1	193099302	193099302	A	T	criteria provided, single submitter	ClinGen:CA16617031