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.652T>G (p.Tyr218Asp)	CASR	Pathogenic	3	121980534	121980534	T	G	criteria provided, single submitter	ClinGen:CA16604347
single nucleotide variant	NM_000388.4(CASR):c.1750A>T (p.Lys584Ter)	CASR	Likely pathogenic	3	122002551	122002551	A	T	criteria provided, single submitter	ClinGen:CA16604350
single nucleotide variant	NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	CASR	Pathogenic	3	122003458	122003458	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604355,LOVD 3:CASR_00066,OMIM:601199.0054
single nucleotide variant	NM_000388.4(CASR):c.514A>G (p.Arg172Gly)	CASR	Pathogenic	3	121980396	121980396	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604425
single nucleotide variant	NM_000388.4(CASR):c.1828G>T (p.Glu610Ter)	CASR	Pathogenic	3	122002629	122002629	G	T	criteria provided, single submitter	ClinGen:CA16604428
single nucleotide variant	NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	CASR	Pathogenic/Likely pathogenic	3	122003206	122003206	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569822
single nucleotide variant	NM_000388.4(CASR):c.2611G>T (p.Glu871Ter)	CASR	Pathogenic	3	122003412	122003412	G	T	criteria provided, single submitter	ClinGen:CA16604790
Deletion	NC_000001.11:g.(?_193130174)_(193130243_?)del	CDC73	Pathogenic	1	193099304	193099373	na	na	criteria provided, single submitter	-
Duplication	NC_000001.10:g.(?_193172925)_(193205486_?)dup	CDC73	Likely pathogenic	1	193172925	193205486	na	na	criteria provided, single submitter	-
Deletion	NM_024529.5(CDC73):c.245del (p.Asn82fs)	CDC73	Pathogenic	1	193099308	193099308	GA	G	criteria provided, single submitter	ClinGen:CA16609946