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_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)	TRPV6	Likely pathogenic	7	142572711	142572711	C	T	criteria provided, single submitter	OMIM:606680.0004
Deletion	NM_000388.4(CASR):c.323del (p.Leu108fs)	CASR	Pathogenic	3	121976064	121976064	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)	CASR	Pathogenic	3	121981056	121981056	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)	CDC73	Pathogenic	1	193104571	193104571	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)	CDC73	Pathogenic	1	193111131	193111131	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024529.5(CDC73):c.718del (p.Ser240fs)	CDC73	Pathogenic	1	193111183	193111183	CA	C	criteria provided, single submitter	-
Deletion	NM_024529.5(CDC73):c.1247del (p.Gly416fs)	CDC73	Pathogenic	1	193202211	193202211	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000388.4(CASR):c.197G>A (p.Arg66His)	CASR	Pathogenic/Likely pathogenic	3	121975939	121975939	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000001.11:g.(?_193122191)_(193250722_?)del	CDC73	Pathogenic	1	193091321	193219852	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000388.4(CASR):c.493-2A>G	CASR	Likely pathogenic	3	121980373	121980373	A	G	criteria provided, single submitter	-