家族性副甲状腺機能亢進症 (MEN以外)

最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.355C>T (p.Gln119Ter)	CDC73	Pathogenic	1	193104568	193104568	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602772
single nucleotide variant	NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	CASR	Pathogenic	3	121973200	121973200	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602861
single nucleotide variant	NM_000388.4(CASR):c.2364C>G (p.Phe788Leu)	CASR	Pathogenic	3	122003165	122003165	C	G	criteria provided, single submitter	ClinGen:CA10602865
Duplication	NM_000388.4(CASR):c.108dup (p.Leu37fs)	CASR	Pathogenic	3	121973138	121973139	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602870
single nucleotide variant	NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)	CASR	Pathogenic	3	122000981	122000981	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602891
single nucleotide variant	NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	CASR	Pathogenic/Likely pathogenic	3	121973109	121973109	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569414
single nucleotide variant	NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	CASR	Likely pathogenic	3	121981065	121981065	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042449
single nucleotide variant	NM_004752.4(GCM2):c.1504A>G (p.Asn502Asp)	GCM2	Likely pathogenic	6	10874245	10874245	T	C	criteria provided, single submitter	ClinGen:CA3633870
single nucleotide variant	NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	CASR	Likely pathogenic	3	122003250	122003250	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043395
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