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.654+1G>T	MEN1	Pathogenic	11	64575362	64575362	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009560
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
Deletion	NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)	MEN1	Pathogenic	11	64575386	64575389	ACTGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009530,OMIM:613733.0007
single nucleotide variant	NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)	MEN1	Pathogenic	11	64575423	64575423	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009518
single nucleotide variant	NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)	MEN1	Pathogenic	11	64575469	64575469	C	T	criteria provided, multiple submitters, no conflicts	-
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.515A>T (p.Asp172Val)	MEN1	Likely pathogenic	11	64575502	64575502	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009460
single nucleotide variant	NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)	MEN1	Pathogenic	11	64577260	64577260	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009370
Deletion	NM_001370259.2(MEN1):c.307del (p.Leu103fs)	MEN1	Pathogenic	11	64577275	64577275	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009358,OMIM:613733.0003
Duplication	NM_001370259.2(MEN1):c.164dup (p.Thr56fs)	MEN1	Pathogenic	11	64577417	64577418	A	AG	criteria provided, single submitter	ClinGen:CA306429