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_000388.4(CASR):c.1942C>T (p.Arg648Ter)	CASR	Pathogenic	3	122002743	122002743	C	T	criteria provided, single submitter	ClinGen:CA119517,OMIM:601199.0032
single nucleotide variant	NM_000388.4(CASR):c.186-1G>T	CASR	Pathogenic	3	121975927	121975927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA212893,OMIM:601199.0033
single nucleotide variant	NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	CASR	Likely pathogenic	3	122003329	122003329	C	A	criteria provided, single submitter	ClinGen:CA119519,OMIM:601199.0034
single nucleotide variant	NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	CASR	Pathogenic	3	121980435	121980435	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119523,OMIM:601199.0036
single nucleotide variant	NM_000388.4(CASR):c.374T>C (p.Leu125Pro)	CASR	Pathogenic/Likely pathogenic	3	121976116	121976116	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119525,OMIM:601199.0037
single nucleotide variant	NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	CASR	Pathogenic	3	122002611	122002611	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119533,OMIM:601199.0041
single nucleotide variant	NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)	CASR	Likely pathogenic	3	122001008	122001008	G	A	criteria provided, single submitter	ClinGen:CA119547,OMIM:601199.0048
Deletion	NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)	CASR	Likely pathogenic	3	121994792	121994795	GTGTT	G	criteria provided, single submitter	ClinGen:CA213563
single nucleotide variant	NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	CASR	Pathogenic/Likely pathogenic	3	121994806	121994806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA213564
Deletion	NM_000388.4(CASR):c.166del (p.Glu56fs)	CASR	Pathogenic/Likely pathogenic	3	121973201	121973201	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA213566