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.427G>A (p.Gly143Arg)	CASR	Likely pathogenic	3	121976169	121976169	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2569467
single nucleotide variant	NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	CASR	Likely pathogenic	3	121981065	121981065	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042449
single nucleotide variant	NM_004752.4(GCM2):c.1504A>G (p.Asn502Asp)	GCM2	Likely pathogenic	6	10874245	10874245	T	C	criteria provided, single submitter	ClinGen:CA3633870
single nucleotide variant	NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	CASR	Likely pathogenic	3	122003250	122003250	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043395
single nucleotide variant	NM_024529.5(CDC73):c.132-2A>G	CDC73	Likely pathogenic	1	193094240	193094240	A	G	criteria provided, single submitter	ClinGen:CA16044356
single nucleotide variant	NM_000388.4(CASR):c.1750A>T (p.Lys584Ter)	CASR	Likely pathogenic	3	122002551	122002551	A	T	criteria provided, single submitter	ClinGen:CA16604350
Duplication	NC_000001.10:g.(?_193172925)_(193205486_?)dup	CDC73	Likely pathogenic	1	193172925	193205486	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024529.5(CDC73):c.188T>C (p.Leu63Pro)	CDC73	Likely pathogenic	1	193094298	193094298	T	C	criteria provided, single submitter	ClinGen:CA16609951
single nucleotide variant	NM_024529.5(CDC73):c.729+1G>T	CDC73	Likely pathogenic	1	193111197	193111197	G	T	criteria provided, single submitter	ClinGen:CA16609963
single nucleotide variant	NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)	CASR	Likely pathogenic	3	122001003	122001003	G	A	criteria provided, single submitter	ClinGen:CA16611307