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
Deletion	NC_000001.11:g.(?_193122191)_(193122341_?)del	CDC73	Pathogenic	1	193091321	193091471	na	na	criteria provided, single submitter	-
Indel	NM_024529.5(CDC73):c.375_376delinsT (p.Lys125fs)	CDC73	Pathogenic	1	193104671	193104672	AC	T	criteria provided, single submitter	-
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
Duplication	NM_024529.5(CDC73):c.483dup (p.Glu162fs)	CDC73	Pathogenic	1	193107271	193107272	C	CA	criteria provided, single submitter	ClinGen:CA658795575
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
single nucleotide variant	NM_024529.5(CDC73):c.2T>C (p.Met1Thr)	CDC73	Pathogenic	1	193091332	193091332	T	C	criteria provided, single submitter	ClinGen:CA343972725
single nucleotide variant	NM_024529.5(CDC73):c.3G>T (p.Met1Ile)	CDC73	Pathogenic	1	193091333	193091333	G	T	criteria provided, single submitter	ClinGen:CA343972728
Deletion	NM_000388.4(CASR):c.1972del (p.Leu658fs)	CASR	Pathogenic	3	122002771	122002771	TC	T	criteria provided, single submitter	ClinGen:CA658657328
Deletion	NM_024529.5(CDC73):c.1052del (p.Pro351fs)	CDC73	Pathogenic	1	193181212	193181212	TC	T	criteria provided, single submitter	ClinGen:CA658656978
single nucleotide variant	NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)	CDC73	Pathogenic	1	193107296	193107296	C	T	criteria provided, single submitter	ClinGen:CA343961378