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.95C>T (p.Ser32Leu)	RET	Likely pathogenic	10	43595928	43595928	C	T	criteria provided, single submitter	ClinGen:CA009398,UniProtKB:P07949#VAR_006295,OMIM:164761.0018
single nucleotide variant	NM_020975.6(RET):c.989G>A (p.Arg330Gln)	RET	Likely pathogenic	10	43601945	43601945	G	A	criteria provided, single submitter	ClinGen:CA009415,UniProtKB:P07949#VAR_006302,OMIM:164761.0022
single nucleotide variant	NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)	RET	Likely pathogenic	10	43609061	43609061	A	G	criteria provided, single submitter	ClinGen:CA007781
single nucleotide variant	NM_020975.6(RET):c.1831T>C (p.Cys611Arg)	RET	Likely pathogenic	10	43609075	43609075	T	C	criteria provided, single submitter	ClinGen:CA007873,UniProtKB:P07949#VAR_009473
Indel	NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer)	RET	Likely pathogenic	10	43610046	43610046	G	TTCT	criteria provided, single submitter	-
single nucleotide variant	NM_020975.6(RET):c.2711C>T (p.Ser904Phe)	RET	Likely pathogenic	10	43615632	43615632	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009027
Duplication	NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)	MEN1	Likely pathogenic	11	64573739	64573740	C	CA	criteria provided, single submitter	ClinGen:CA260439
Deletion	NM_001370259.2(MEN1):c.1063del (p.Arg355fs)	MEN1	Likely pathogenic	11	64573229	64573229	CG	C	criteria provided, single submitter	ClinGen:CA009011
Duplication	NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)	MEN1	Likely pathogenic	11	64573117	64573118	T	TC	criteria provided, single submitter	ClinGen:CA260440
single nucleotide variant	NM_001370259.2(MEN1):c.417C>G (p.His139Gln)	MEN1	Likely pathogenic	11	64577165	64577165	G	C	criteria provided, single submitter	ClinGen:CA009417