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
Deletion	NM_000388.4(CASR):c.2101del (p.Arg701fs)	CASR	Pathogenic	3	122002901	122002901	AC	A	criteria provided, single submitter	ClinGen:CA658657329
Deletion	NM_000388.4(CASR):c.1849del (p.Thr617fs)	CASR	Pathogenic	3	122002650	122002650	CA	C	criteria provided, single submitter	ClinGen:CA658657327
single nucleotide variant	NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter)	GCM2	Pathogenic	6	10876726	10876726	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362724360
Duplication	NM_004752.4(GCM2):c.456+2dup	GCM2	Pathogenic	6	10876675	10876676	T	TA	criteria provided, single submitter	ClinGen:CA3634073
Deletion	NC_000006.12:g.(?_10875891)_(10881865_?)del	GCM2	Pathogenic	6	10876124	10882098	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	CASR	Pathogenic	3	121980540	121980540	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151065
Deletion	NM_000388.4(CASR):c.3010del (p.Ser1004fs)	CASR	Pathogenic	3	122003811	122003811	CA	C	criteria provided, single submitter	ClinGen:CA645369338
single nucleotide variant	NM_024529.5(CDC73):c.423+1G>A	CDC73	Pathogenic	1	193104720	193104720	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA343960811
single nucleotide variant	NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)	CDC73	Pathogenic	1	193091415	193091415	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343972911
Indel	NM_000388.4(CASR):c.2154delinsCC (p.Trp718fs)	CASR	Pathogenic	3	122002955	122002955	G	CC	criteria provided, single submitter	ClinGen:CA16617818