多発性内分泌腫瘍症1型、2A・2B型／甲状腺髄様がん

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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_020975.6(RET):c.1833C>G (p.Cys611Trp)	RET	Pathogenic	10	43609077	43609077	C	G	criteria provided, single submitter	ClinGen:CA007954,UniProtKB:P07949#VAR_006308,OMIM:164761.0007
Indel	NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr)	RET	Pathogenic	10	43609076	43609077	GC	AT	criteria provided, single submitter	-
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
single nucleotide variant	NM_020975.6(RET):c.1852T>C (p.Cys618Arg)	RET	Pathogenic	10	43609096	43609096	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007985,UniProtKB:P07949#VAR_006311,OMIM:164761.0025
single nucleotide variant	NM_020975.6(RET):c.1852T>A (p.Cys618Ser)	RET	Pathogenic	10	43609096	43609096	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007974,UniProtKB:P07949#VAR_006313
single nucleotide variant	NM_020975.6(RET):c.1853G>C (p.Cys618Ser)	RET	Pathogenic	10	43609097	43609097	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008013,UniProtKB:P07949#VAR_006313,OMIM:164761.0008
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.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.1858T>C (p.Cys620Arg)	RET	Pathogenic	10	43609102	43609102	T	C	criteria provided, multiple submitters, no conflicts	OMIM:164761.0009,ClinGen:CA008055,UniProtKB:P07949#VAR_006316
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