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_001370259.2(MEN1):c.526G>C (p.Ala176Pro)	MEN1	Pathogenic/Likely pathogenic	11	64575491	64575491	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009468
single nucleotide variant	NM_001370259.2(MEN1):c.643G>A (p.Val215Met)	MEN1	Pathogenic/Likely pathogenic	11	64575374	64575374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009535
single nucleotide variant	NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)	MEN1	Pathogenic/Likely pathogenic	11	64575085	64575085	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009579
single nucleotide variant	NM_001370259.2(MEN1):c.784-9G>A	MEN1	Pathogenic/Likely pathogenic	11	64574700	64574700	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009635,OMIM:613733.0024
Duplication	NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)	MEN1	Pathogenic/Likely pathogenic	11	64572090	64572091	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA306384
single nucleotide variant	NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	MEN1	Pathogenic/Likely pathogenic	11	64577579	64577579	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009394
single nucleotide variant	NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)	MEN1	Pathogenic/Likely pathogenic	11	64572548	64572548	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009127
Indel	NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)	RET	Pathogenic/Likely pathogenic	10	43615568	43615569	GC	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA008962
single nucleotide variant	NM_020975.6(RET):c.2752A>G (p.Met918Val)	RET	Pathogenic/Likely pathogenic	10	43617415	43617415	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009073
single nucleotide variant	NM_020975.6(RET):c.2304G>T (p.Glu768Asp)	RET	Pathogenic/Likely pathogenic	10	43613840	43613840	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008648,UniProtKB:P07949#VAR_006335