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
Deletion	NC_000001.11:g.(?_193236246)_(193236366_?)del	CDC73	Pathogenic	1	193205376	193205496	na	na	criteria provided, single submitter	-
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.1A>G (p.Met1Val)	CDC73	Likely pathogenic	1	193091331	193091331	A	G	criteria provided, single submitter	-
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.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.664C>T (p.Arg222Ter)	CDC73	Pathogenic	1	193111131	193111131	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024529.5(CDC73):c.718del (p.Ser240fs)	CDC73	Pathogenic	1	193111183	193111183	CA	C	criteria provided, single submitter	-
Deletion	NM_024529.5(CDC73):c.1247del (p.Gly416fs)	CDC73	Pathogenic	1	193202211	193202211	AG	A	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_193122191)_(193250722_?)del	CDC73	Pathogenic	1	193091321	193219852	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	CASR	Pathogenic/Likely pathogenic	3	122003184	122003184	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119467,OMIM:601199.0001