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.643G>C (p.Asp215His)	CASR	Likely pathogenic	3	121980525	121980525	G	C	criteria provided, single submitter	ClinGen:CA213604
single nucleotide variant	NM_000388.4(CASR):c.974G>A (p.Gly325Glu)	CASR	Likely pathogenic	3	121980856	121980856	G	A	criteria provided, single submitter	ClinGen:CA213606
single nucleotide variant	NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	CASR	Pathogenic	3	121980544	121980544	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA144609,OMIM:601199.0052
single nucleotide variant	NM_024529.5(CDC73):c.237+1G>T	CDC73	Pathogenic	1	193094348	193094348	G	T	criteria provided, single submitter	ClinGen:CA275089
single nucleotide variant	NM_000388.4(CASR):c.2482A>C (p.Thr828Pro)	CASR	Likely pathogenic	3	122003283	122003283	A	C	criteria provided, single submitter	ClinGen:CA203861
single nucleotide variant	NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	CASR	Likely pathogenic	3	121976169	121976169	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569467
single nucleotide variant	NM_000388.4(CASR):c.2039G>A (p.Arg680His)	CASR	Pathogenic/Likely pathogenic	3	122002840	122002840	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569773
single nucleotide variant	NM_024529.5(CDC73):c.109A>T (p.Lys37Ter)	CDC73	Pathogenic	1	193091439	193091439	A	T	criteria provided, single submitter	ClinGen:CA10588273
Indel	NM_024529.5(CDC73):c.723_725delinsC (p.Gly242fs)	CDC73	Pathogenic	1	193111190	193111192	AGG	C	criteria provided, single submitter	ClinGen:CA10602747
single nucleotide variant	NM_024529.5(CDC73):c.226C>T (p.Arg76Ter)	CDC73	Pathogenic	1	193094336	193094336	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602771