家族性副甲状腺機能亢進症 (MEN以外)

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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	NC_000006.12:g.(?_10875891)_(10881865_?)del	GCM2	Pathogenic	6	10876124	10882098	na	na	criteria provided, single submitter	-
Duplication	NM_004752.4(GCM2):c.456+2dup	GCM2	Pathogenic	6	10876675	10876676	T	TA	criteria provided, single submitter	ClinGen:CA3634073
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
Deletion	NM_000388.4(CASR):c.823_824del (p.Asp275fs)	CASR	Likely pathogenic	3	121980704	121980705	CAG	C	criteria provided, single submitter	ClinGen:CA658657326
Deletion	NM_000388.4(CASR):c.1849del (p.Thr617fs)	CASR	Pathogenic	3	122002650	122002650	CA	C	criteria provided, single submitter	ClinGen:CA658657327
Deletion	NM_000388.4(CASR):c.2101del (p.Arg701fs)	CASR	Pathogenic	3	122002901	122002901	AC	A	criteria provided, single submitter	ClinGen:CA658657329
single nucleotide variant	NM_000388.4(CASR):c.659G>A (p.Arg220Gln)	CASR	Likely pathogenic	3	121980541	121980541	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151067
Deletion	NC_000001.11:g.(?_193130168)_(193135595_?)del	CDC73	Likely pathogenic	1	193099298	193104725	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)	CDC73	Pathogenic	1	193107296	193107296	C	T	criteria provided, single submitter	ClinGen:CA343961378
Deletion	NM_024529.5(CDC73):c.1052del (p.Pro351fs)	CDC73	Pathogenic	1	193181212	193181212	TC	T	criteria provided, single submitter	ClinGen:CA658656978