多発性内分泌腫瘍症1型、2A・2B型／甲状腺髄様がん

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_020975.6(RET):c.1900T>G (p.Cys634Gly)	RET	Pathogenic	10	43609948	43609948	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008324,UniProtKB:P07949#VAR_006323,OMIM:164761.0003
single nucleotide variant	NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	RET	Pathogenic	10	43609096	43609096	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007995,UniProtKB:P07949#VAR_006310,OMIM:164761.0001