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.376C>T (p.Arg126Ter)	CDC73	Pathogenic/Likely pathogenic	1	193104672	193104672	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343960611
Deletion	NM_000388.4(CASR):c.1972del (p.Leu658fs)	CASR	Pathogenic	3	122002771	122002771	TC	T	criteria provided, single submitter	ClinGen:CA658657328
Indel	NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs)	CASR	Likely pathogenic	3	122003045	122003045	G	CC	criteria provided, single submitter	-
single nucleotide variant	NM_024529.5(CDC73):c.3G>T (p.Met1Ile)	CDC73	Pathogenic	1	193091333	193091333	G	T	criteria provided, single submitter	ClinGen:CA343972728
single nucleotide variant	NM_024529.5(CDC73):c.2T>C (p.Met1Thr)	CDC73	Pathogenic	1	193091332	193091332	T	C	criteria provided, single submitter	ClinGen:CA343972725
single nucleotide variant	NM_000388.4(CASR):c.384C>A (p.Phe128Leu)	CASR	Pathogenic	3	121976126	121976126	C	A	criteria provided, single submitter	ClinGen:CA354362784
Duplication	NM_024529.5(CDC73):c.483dup (p.Glu162fs)	CDC73	Pathogenic	1	193107271	193107272	C	CA	criteria provided, single submitter	ClinGen:CA658795575
single nucleotide variant	NM_000388.4(CASR):c.733C>T (p.Gln245Ter)	CASR	Pathogenic	3	121980615	121980615	C	T	criteria provided, single submitter	ClinGen:CA354151236
single nucleotide variant	NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	CASR	Pathogenic/Likely pathogenic	3	121980561	121980561	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151112
Indel	NM_024529.5(CDC73):c.375_376delinsT (p.Lys125fs)	CDC73	Pathogenic	1	193104671	193104672	AC	T	criteria provided, single submitter	-