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.1902C>G (p.Cys634Trp)	RET	Pathogenic	10	43609950	43609950	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008378,UniProtKB:P07949#VAR_006328,OMIM:164761.0012
single nucleotide variant	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET	Pathogenic/Likely pathogenic	10	43617416	43617416	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009082,UniProtKB:P07949#VAR_006342,OMIM:164761.0013
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.538C>T (p.Arg180Ter)	RET	Pathogenic	10	43597990	43597990	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009273,OMIM:164761.0021
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
single nucleotide variant	NM_020975.6(RET):c.1859G>T (p.Cys620Phe)	RET	Pathogenic	10	43609103	43609103	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008094,UniProtKB:P07949#VAR_006318,OMIM:164761.0024
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.2304G>C (p.Glu768Asp)	RET	Pathogenic	10	43613840	43613840	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008641,UniProtKB:P07949#VAR_006335,OMIM:164761.0027
single nucleotide variant	NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)	RET	Pathogenic	10	43609070	43609070	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007824,UniProtKB:P07949#VAR_006306,OMIM:164761.0029
single nucleotide variant	NM_020975.6(RET):c.1860C>G (p.Cys620Trp)	RET	Pathogenic	10	43609104	43609104	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008105,UniProtKB:P07949#VAR_009475,OMIM:164761.0032