家族性副甲状腺機能亢進症 (MEN以外)

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.186-1G>T	CASR	Pathogenic	3	121975927	121975927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA212893,OMIM:601199.0033
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.197G>A (p.Arg66His)	CASR	Pathogenic/Likely pathogenic	3	121975939	121975939	G	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)	CASR	Pathogenic	3	121975941	121975941	G	TTCGCT	criteria provided, single submitter	-
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.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.374T>C (p.Leu125Pro)	CASR	Pathogenic/Likely pathogenic	3	121976116	121976116	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119525,OMIM:601199.0037
single nucleotide variant	NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	CASR	Pathogenic	3	121976122	121976122	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119473,OMIM:601199.0004
single nucleotide variant	NM_000388.4(CASR):c.380A>G (p.Glu127Gly)	CASR	Likely pathogenic	3	121976122	121976122	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA213599
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