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.680G>T (p.Arg227Leu)	CASR	Pathogenic	3	121980562	121980562	G	T	criteria provided, single submitter	ClinGen:CA119475,OMIM:601199.0006
single nucleotide variant	NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)	CASR	Pathogenic	3	122002546	122002546	G	A	criteria provided, single submitter	ClinGen:CA119477,OMIM:601199.0007
single nucleotide variant	NM_000388.4(CASR):c.346G>A (p.Ala116Thr)	CASR	Likely pathogenic	3	121976088	121976088	G	A	criteria provided, single submitter	ClinGen:CA119481,OMIM:601199.0010
single nucleotide variant	NM_000388.4(CASR):c.452C>T (p.Thr151Met)	CASR	Pathogenic	3	121976194	121976194	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119485,OMIM:601199.0012
single nucleotide variant	NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	CASR	Pathogenic	3	121980562	121980562	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212891,OMIM:601199.0022,OMIM:601199.0049
single nucleotide variant	NM_000388.4(CASR):c.413C>T (p.Thr138Met)	CASR	Likely pathogenic	3	121976155	121976155	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119501,OMIM:601199.0023
single nucleotide variant	NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	CASR	Pathogenic	3	121976170	121976170	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119503,OMIM:601199.0024
single nucleotide variant	NM_000388.4(CASR):c.196C>T (p.Arg66Cys)	CASR	Pathogenic/Likely pathogenic	3	121975938	121975938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119507,OMIM:601199.0026
single nucleotide variant	NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)	CASR	Pathogenic	3	122003164	122003164	T	G	criteria provided, single submitter	ClinGen:CA119509,OMIM:601199.0027
single nucleotide variant	NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	CASR	Likely pathogenic	3	122003442	122003442	T	C	criteria provided, single submitter	ClinGen:CA119515,OMIM:601199.0031