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
single nucleotide variant	NM_000388.4(CASR):c.197G>A (p.Arg66His)	CASR	Pathogenic/Likely pathogenic	3	121975939	121975939	G	A	criteria provided, multiple submitters, no conflicts	-
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_000388.4(CASR):c.679C>T (p.Arg227Ter)	CASR	Pathogenic/Likely pathogenic	3	121980561	121980561	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA354151112
single nucleotide variant	NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)	CDC73	Pathogenic/Likely pathogenic	1	193104672	193104672	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343960611
single nucleotide variant	NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	CASR	Pathogenic/Likely pathogenic	3	122003194	122003194	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611130
single nucleotide variant	NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	CASR	Pathogenic/Likely pathogenic	3	122002839	122002839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569772
single nucleotide variant	NM_000388.4(CASR):c.532A>G (p.Asn178Asp)	CASR	Pathogenic/Likely pathogenic	3	121980414	121980414	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611083
single nucleotide variant	NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	CASR	Pathogenic/Likely pathogenic	3	122003206	122003206	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569822
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
single nucleotide variant	NM_000388.4(CASR):c.2039G>A (p.Arg680His)	CASR	Pathogenic/Likely pathogenic	3	122002840	122002840	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569773