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.25C>T (p.Arg9Ter)	CDC73	Pathogenic	1	193091355	193091355	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252644,OMIM:607393.0002
single nucleotide variant	NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)	CDC73	Pathogenic	1	193091458	193091458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252648,OMIM:607393.0005
single nucleotide variant	NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)	CDC73	Likely pathogenic	1	193094301	193094301	T	C	criteria provided, single submitter	ClinGen:CA252651,UniProtKB:Q6P1J9#VAR_024082,OMIM:607393.0006
single nucleotide variant	NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)	CDC73	Pathogenic	1	193094272	193094272	C	G	criteria provided, single submitter	ClinGen:CA252653,OMIM:607393.0008
single nucleotide variant	NM_024529.5(CDC73):c.131+1G>A	CDC73	Pathogenic/Likely pathogenic	1	193091462	193091462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116128,OMIM:607393.0010
single nucleotide variant	NM_024529.5(CDC73):c.237+1G>T	CDC73	Pathogenic	1	193094348	193094348	G	T	criteria provided, single submitter	ClinGen:CA275089
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
Indel	NM_024529.5(CDC73):c.723_725delinsC (p.Gly242fs)	CDC73	Pathogenic	1	193111190	193111192	AGG	C	criteria provided, single submitter	ClinGen:CA10602747
single nucleotide variant	NM_024529.5(CDC73):c.226C>T (p.Arg76Ter)	CDC73	Pathogenic	1	193094336	193094336	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602771
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