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_018646.6(TRPV6):c.668T>C (p.Ile223Thr)	TRPV6	Pathogenic/Likely pathogenic	7	142574530	142574530	A	G	criteria provided, multiple submitters, no conflicts	OMIM:606680.0003
single nucleotide variant	NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)	TRPV6	Likely pathogenic	7	142572886	142572886	C	T	criteria provided, single submitter	OMIM:606680.0002
single nucleotide variant	NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)	TRPV6	Likely pathogenic	7	142572711	142572711	C	T	criteria provided, single submitter	OMIM:606680.0004
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_000388.4(CASR):c.2657G>C (p.Arg886Pro)	CASR	Pathogenic	3	122003458	122003458	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604355,LOVD 3:CASR_00066,OMIM:601199.0054
single nucleotide variant	NM_000388.4(CASR):c.2644A>T (p.Lys882Ter)	CASR	Likely pathogenic	3	122003445	122003445	A	T	criteria provided, single submitter	ClinGen:CA213590
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.2611G>T (p.Glu871Ter)	CASR	Pathogenic	3	122003412	122003412	G	T	criteria provided, single submitter	ClinGen:CA16604790
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.2482A>C (p.Thr828Pro)	CASR	Likely pathogenic	3	122003283	122003283	A	C	criteria provided, single submitter	ClinGen:CA203861