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
Deletion	NM_001370259.2(MEN1):c.265del (p.Leu89fs)	MEN1	Pathogenic	11	64577317	64577317	AG	A	criteria provided, single submitter	ClinGen:CA645369561
Deletion	NM_001370259.2(MEN1):c.237del (p.Val80fs)	MEN1	Pathogenic	11	64577345	64577345	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA475163782
Deletion	NM_001370259.2(MEN1):c.223del (p.Leu75fs)	MEN1	Pathogenic	11	64577359	64577359	AG	A	criteria provided, single submitter	ClinGen:CA645369562
single nucleotide variant	NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)	MEN1	Pathogenic	11	64577449	64577449	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381187857
Deletion	NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)	MEN1	Pathogenic/Likely pathogenic	11	64577460	64577474	CAGCACCAAGGAAAGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369572
Deletion	NM_001370259.2(MEN1):c.16_17del (p.Ala6fs)	MEN1	Pathogenic	11	64577565	64577566	GGC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369576
single nucleotide variant	NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)	MEN1	Pathogenic	11	64577581	64577581	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381188344
single nucleotide variant	NM_020975.6(RET):c.3288T>G (p.Tyr1096Ter)	RET	Likely pathogenic	10	43623660	43623660	T	G	criteria provided, single submitter	ClinGen:CA376559149
single nucleotide variant	NM_001370259.2(MEN1):c.912+2T>C	MEN1	Pathogenic	11	64574481	64574481	A	G	criteria provided, single submitter	ClinGen:CA381183471
Deletion	NM_001370259.2(MEN1):c.1602_1618del (p.Ala535fs)	MEN1	Pathogenic/Likely pathogenic	11	64572021	64572037	GGTGCTGGCACCTGAGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797660