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.2370G>C (p.Leu790Phe)	RET	Pathogenic/Likely pathogenic	10	43613906	43613906	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008702,UniProtKB:P07949#VAR_009482,OMIM:164761.0033
single nucleotide variant	NM_020975.6(RET):c.1859G>C (p.Cys620Ser)	RET	Pathogenic	10	43609103	43609103	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008085,UniProtKB:P07949#VAR_006317,OMIM:164761.0041
single nucleotide variant	NM_020975.6(RET):c.1825T>C (p.Cys609Arg)	RET	Pathogenic	10	43609069	43609069	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007804,UniProtKB:P07949#VAR_009471,OMIM:164761.0042
single nucleotide variant	NM_020975.6(RET):c.2410G>A (p.Val804Met)	RET	Pathogenic/Likely pathogenic	10	43614996	43614996	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008751,UniProtKB:P07949#VAR_006337,OMIM:164761.0043,ClinVar:13945,ClinVar:618965
single nucleotide variant	NM_020975.6(RET):c.2410G>T (p.Val804Leu)	RET	Pathogenic	10	43614996	43614996	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008766,UniProtKB:P07949#VAR_006336,OMIM:164761.0044
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.2671T>G (p.Ser891Ala)	RET	Pathogenic	10	43615592	43615592	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008989,UniProtKB:P07949#VAR_009486,OMIM:164761.0049
single nucleotide variant	NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)	MEN1	Pathogenic/Likely pathogenic	11	64577517	64577517	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009546,UniProtKB:O00255#VAR_005426,OMIM:613733.0001
Deletion	NM_001370259.2(MEN1):c.402del (p.Phe134fs)	MEN1	Pathogenic	11	64577180	64577180	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009401,OMIM:613733.0005
single nucleotide variant	NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)	MEN1	Pathogenic	11	64575424	64575424	C	T	criteria provided, single submitter	OMIM:613733.0006,ClinGen:CA009514