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.680G>T (p.Arg227Leu)	CASR	Pathogenic	3	121980562	121980562	G	T	criteria provided, single submitter	ClinGen:CA119475,OMIM:601199.0006
single nucleotide variant	NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	CASR	Pathogenic	3	121980562	121980562	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212891,OMIM:601199.0022,OMIM:601199.0049
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
Deletion	NM_000388.4(CASR):c.823_824del (p.Asp275fs)	CASR	Likely pathogenic	3	121980704	121980705	CAG	C	criteria provided, single submitter	ClinGen:CA658657326
single nucleotide variant	NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	CASR	Pathogenic	3	121980771	121980771	G	A	criteria provided, single submitter	ClinGen:CA119469,OMIM:601199.0002
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.1174C>T (p.Arg392Ter)	CASR	Pathogenic	3	121981056	121981056	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	CASR	Likely pathogenic	3	121981065	121981065	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042449
Deletion	NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)	CASR	Likely pathogenic	3	121994792	121994795	GTGTT	G	criteria provided, single submitter	ClinGen:CA213563
single nucleotide variant	NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	CASR	Pathogenic/Likely pathogenic	3	121994806	121994806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA213564