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.132-2A>G	CDC73	Likely pathogenic	1	193094240	193094240	A	G	criteria provided, single submitter	ClinGen:CA16044356
Deletion	NC_000001.11:g.(?_193130174)_(193130243_?)del	CDC73	Pathogenic	1	193099304	193099373	na	na	criteria provided, single submitter	-
Duplication	NC_000001.10:g.(?_193172925)_(193205486_?)dup	CDC73	Likely pathogenic	1	193172925	193205486	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.188T>C (p.Leu63Pro)	CDC73	Likely pathogenic	1	193094298	193094298	T	C	criteria provided, single submitter	ClinGen:CA16609951
Deletion	NM_024529.5(CDC73):c.4del (p.Ala2fs)	CDC73	Pathogenic	1	193091333	193091333	TG	T	criteria provided, single submitter	ClinGen:CA16609960
single nucleotide variant	NM_024529.5(CDC73):c.729+1G>T	CDC73	Likely pathogenic	1	193111197	193111197	G	T	criteria provided, single submitter	ClinGen:CA16609963
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.238-2A>T	CDC73	Pathogenic	1	193099302	193099302	A	T	criteria provided, single submitter	ClinGen:CA16617031
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