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_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_000388.4(CASR):c.1174C>T (p.Arg392Ter)	CASR	Pathogenic	3	121981056	121981056	C	T	criteria provided, single submitter	-
Deletion	NM_000388.4(CASR):c.323del (p.Leu108fs)	CASR	Pathogenic	3	121976064	121976064	CT	C	criteria provided, single submitter	-
Deletion	NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del)	CASR	Pathogenic	3	121976135	121976149	GCTCAGAGCACATTCC	G	criteria provided, single submitter	-
Indel	NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs)	CASR	Pathogenic	3	121975941	121975941	G	TTCGCT	criteria provided, single submitter	-
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_000388.4(CASR):c.733C>T (p.Gln245Ter)	CASR	Pathogenic	3	121980615	121980615	C	T	criteria provided, single submitter	ClinGen:CA354151236
single nucleotide variant	NM_000388.4(CASR):c.384C>A (p.Phe128Leu)	CASR	Pathogenic	3	121976126	121976126	C	A	criteria provided, single submitter	ClinGen:CA354362784
Indel	NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs)	CASR	Likely pathogenic	3	122003045	122003045	G	CC	criteria provided, single submitter	-
Deletion	NM_000388.4(CASR):c.1972del (p.Leu658fs)	CASR	Pathogenic	3	122002771	122002771	TC	T	criteria provided, single submitter	ClinGen:CA658657328