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
Deletion	NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)	MEN1	Pathogenic	11	64573203	64573205	ACTC	A	criteria provided, multiple submitters, no conflicts	OMIM:613733.0009,ClinGen:CA356504
single nucleotide variant	NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)	MEN1	Pathogenic/Likely pathogenic	11	64572550	64572550	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009116,UniProtKB:O00255#VAR_005464,OMIM:613733.0010
single nucleotide variant	NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)	MEN1	Pathogenic	11	64572549	64572549	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009122,OMIM:613733.0011
single nucleotide variant	NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)	MEN1	Pathogenic/Likely pathogenic	11	64572060	64572060	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009219,OMIM:613733.0012
single nucleotide variant	NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)	MEN1	Pathogenic/Likely pathogenic	11	64577506	64577506	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009584,UniProtKB:O00255#VAR_005427,OMIM:613733.0013
single nucleotide variant	NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)	MEN1	Pathogenic	11	64575029	64575029	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009615,OMIM:613733.0014
single nucleotide variant	NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)	MEN1	Pathogenic	11	64572261	64572261	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009155,OMIM:613733.0016
Deletion	NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)	MEN1	Pathogenic	11	64577330	64577333	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009345,OMIM:613733.0002,OMIM:613733.0017
single nucleotide variant	NM_001370259.2(MEN1):c.415C>G (p.His139Asp)	MEN1	Pathogenic	11	64577167	64577167	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009410,UniProtKB:O00255#VAR_005432,OMIM:613733.0023
single nucleotide variant	NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)	MEN1	Pathogenic	11	64572604	64572604	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009084,UniProtKB:O00255#VAR_005461,OMIM:613733.0027