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_024529.5(CDC73):c.191T>C (p.Leu64Pro)	CDC73	Likely pathogenic	1	193094301	193094301	T	C	criteria provided, single submitter	ClinGen:CA252651,UniProtKB:Q6P1J9#VAR_024082,OMIM:607393.0006
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
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.413C>T (p.Thr138Met)	CASR	Likely pathogenic	3	121976155	121976155	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119501,OMIM:601199.0023
single nucleotide variant	NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	CASR	Likely pathogenic	3	122003442	122003442	T	C	criteria provided, single submitter	ClinGen:CA119515,OMIM:601199.0031
single nucleotide variant	NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	CASR	Likely pathogenic	3	122003329	122003329	C	A	criteria provided, single submitter	ClinGen:CA119519,OMIM:601199.0034
single nucleotide variant	NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)	CASR	Likely pathogenic	3	122001008	122001008	G	A	criteria provided, single submitter	ClinGen:CA119547,OMIM:601199.0048
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.1676C>A (p.Pro559His)	CASR	Likely pathogenic	3	122001027	122001027	C	A	criteria provided, single submitter	ClinGen:CA213567
single nucleotide variant	NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)	CASR	Likely pathogenic	3	122001036	122001036	G	C	criteria provided, single submitter	ClinGen:CA213569