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.95C>T (p.Ser32Leu)	RET	Likely pathogenic	10	43595928	43595928	C	T	criteria provided, single submitter	ClinGen:CA009398,UniProtKB:P07949#VAR_006295,OMIM:164761.0018
single nucleotide variant	NM_020975.6(RET):c.268G>T (p.Glu90Ter)	RET	Pathogenic	10	43596101	43596101	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_020975.6(RET):c.538C>T (p.Arg180Ter)	RET	Pathogenic	10	43597990	43597990	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009273,OMIM:164761.0021
Deletion	NC_000010.11:g.(?_43100449)_(43102639_?)del	RET	Likely pathogenic	10	43595897	43598087	na	na	criteria provided, single submitter	-
Duplication	NM_020975.6(RET):c.890dup (p.Val298fs)	RET	Pathogenic	10	43601845	43601846	C	CG	criteria provided, single submitter	ClinGen:CA10603140
single nucleotide variant	NM_020975.6(RET):c.989G>A (p.Arg330Gln)	RET	Likely pathogenic	10	43601945	43601945	G	A	criteria provided, single submitter	ClinGen:CA009415,UniProtKB:P07949#VAR_006302,OMIM:164761.0022
Duplication	NM_020975.6(RET):c.1425dup (p.Pro476fs)	RET	Pathogenic	10	43606814	43606815	C	CG	criteria provided, single submitter	ClinGen:CA658797415
single nucleotide variant	NM_020975.6(RET):c.1597G>T (p.Gly533Cys)	RET	Pathogenic	10	43607621	43607621	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007675,OMIM:164761.0048
single nucleotide variant	NM_020975.6(RET):c.1783G>T (p.Glu595Ter)	RET	Pathogenic	10	43609027	43609027	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)	RET	Likely pathogenic	10	43609061	43609061	A	G	criteria provided, single submitter	ClinGen:CA007781