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.237+1G>C	CDC73	Pathogenic	1	193094348	193094348	G	C	criteria provided, single submitter	ClinGen:CA16609972
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.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.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.188T>C (p.Leu63Pro)	CDC73	Likely pathogenic	1	193094298	193094298	T	C	criteria provided, single submitter	ClinGen:CA16609951
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.132-2A>G	CDC73	Likely pathogenic	1	193094240	193094240	A	G	criteria provided, single submitter	ClinGen:CA16044356
Deletion	NC_000001.11:g.(?_193122191)_(193122341_?)del	CDC73	Pathogenic	1	193091321	193091471	na	na	criteria provided, single submitter	-
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.128G>A (p.Trp43Ter)	CDC73	Pathogenic	1	193091458	193091458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252648,OMIM:607393.0005