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.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_000388.4(CASR):c.532A>G (p.Asn178Asp)	CASR	Pathogenic/Likely pathogenic	3	121980414	121980414	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611083
single nucleotide variant	NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	CASR	Pathogenic/Likely pathogenic	3	122002839	122002839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569772
single nucleotide variant	NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	CASR	Pathogenic/Likely pathogenic	3	122003194	122003194	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611130
Indel	NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)	CASR	Pathogenic	3	121973200	121973201	CG	TT	criteria provided, single submitter	ClinGen:CA16611278
single nucleotide variant	NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)	CASR	Likely pathogenic	3	122001003	122001003	G	A	criteria provided, single submitter	ClinGen:CA16611307
single nucleotide variant	NM_024529.5(CDC73):c.238-2A>T	CDC73	Pathogenic	1	193099302	193099302	A	T	criteria provided, single submitter	ClinGen:CA16617031