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
single nucleotide variant	NM_004752.4(GCM2):c.1504A>G (p.Asn502Asp)	GCM2	Likely pathogenic	6	10874245	10874245	T	C	criteria provided, single submitter	ClinGen:CA3633870
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
single nucleotide variant	NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)	GCM2	Likely pathogenic	6	10877529	10877529	C	T	criteria provided, single submitter	ClinGen:CA117937,UniProtKB:O75603#VAR_058045,OMIM:603716.0003
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.73C>T (p.Arg25Ter)	CASR	Pathogenic/Likely pathogenic	3	121973109	121973109	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569414
Duplication	NM_000388.4(CASR):c.108dup (p.Leu37fs)	CASR	Pathogenic	3	121973138	121973139	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602870
single nucleotide variant	NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	CASR	Pathogenic	3	121973200	121973200	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602861
Deletion	NM_000388.4(CASR):c.166del (p.Glu56fs)	CASR	Pathogenic/Likely pathogenic	3	121973201	121973201	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA213566
Indel	NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu)	CASR	Pathogenic	3	121973200	121973201	CG	TT	criteria provided, single submitter	ClinGen:CA16611278