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.1996A>G (p.Lys666Glu)	RET	Pathogenic/Likely pathogenic	10	43610044	43610044	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008502
single nucleotide variant	NM_020975.6(RET):c.1947G>A (p.Ser649=)	RET	Pathogenic/Likely pathogenic	10	43609995	43609995	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008487
single nucleotide variant	NM_020975.6(RET):c.1891G>T (p.Asp631Tyr)	RET	Pathogenic	10	43609939	43609939	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008198
single nucleotide variant	NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)	RET	Pathogenic	10	43609937	43609937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008154,UniProtKB:P07949#VAR_009478
single nucleotide variant	NM_020975.6(RET):c.1888T>C (p.Cys630Arg)	RET	Pathogenic	10	43609936	43609936	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008145
single nucleotide variant	NM_020975.6(RET):c.1858T>G (p.Cys620Gly)	RET	Pathogenic	10	43609102	43609102	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008066,UniProtKB:P07949#VAR_006315
single nucleotide variant	NM_020975.6(RET):c.1853G>T (p.Cys618Phe)	RET	Pathogenic	10	43609097	43609097	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008022,UniProtKB:P07949#VAR_006312
single nucleotide variant	NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)	RET	Pathogenic	10	43609097	43609097	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008005,UniProtKB:P07949#VAR_006314
single nucleotide variant	NM_020975.6(RET):c.1832G>T (p.Cys611Phe)	RET	Pathogenic	10	43609076	43609076	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007949
single nucleotide variant	NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)	RET	Pathogenic	10	43609076	43609076	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007934,UniProtKB:P07949#VAR_006309