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.25C>T (p.Arg9Ter)	CDC73	Pathogenic	1	193091355	193091355	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252644,OMIM:607393.0002
single nucleotide variant	NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)	CDC73	Pathogenic	1	193091458	193091458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252648,OMIM:607393.0005
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_024529.5(CDC73):c.162C>G (p.Tyr54Ter)	CDC73	Pathogenic	1	193094272	193094272	C	G	criteria provided, single submitter	ClinGen:CA252653,OMIM:607393.0008
single nucleotide variant	NM_024529.5(CDC73):c.131+1G>A	CDC73	Pathogenic/Likely pathogenic	1	193091462	193091462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116128,OMIM:607393.0010
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.2383C>T (p.Arg795Trp)	CASR	Pathogenic/Likely pathogenic	3	122003184	122003184	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119467,OMIM:601199.0001
single nucleotide variant	NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	CASR	Pathogenic	3	121980771	121980771	G	A	criteria provided, single submitter	ClinGen:CA119469,OMIM:601199.0002
single nucleotide variant	NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	CASR	Pathogenic	3	121980436	121980436	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119471,OMIM:601199.0003
single nucleotide variant	NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	CASR	Pathogenic	3	121976122	121976122	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119473,OMIM:601199.0004