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.494G>A (p.Cys165Tyr)	MEN1	Likely pathogenic	11	64575523	64575523	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605984
single nucleotide variant	NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg)	MEN1	Likely pathogenic	11	64575134	64575134	C	T	criteria provided, single submitter	ClinGen:CA16605982
Duplication	NM_001370259.2(MEN1):c.773_775dup (p.Gln258dup)	MEN1	Likely pathogenic	11	64575031	64575032	A	AGCT	criteria provided, single submitter	ClinGen:CA16042754
Deletion	NM_001370259.2(MEN1):c.1739del (p.Thr580fs)	MEN1	Likely pathogenic	11	64571900	64571900	CG	C	criteria provided, single submitter	ClinGen:CA348208
single nucleotide variant	NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)	MEN1	Likely pathogenic	11	64577547	64577547	G	A	criteria provided, single submitter	ClinGen:CA009390,UniProtKB:O00255#VAR_005425
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_020975.6(RET):c.2837C>T (p.Thr946Ile)	RET	Likely pathogenic	10	43619154	43619154	C	T	criteria provided, single submitter	ClinGen:CA009107
single nucleotide variant	NM_020975.6(RET):c.1880-2A>G	RET	Likely pathogenic	10	43609926	43609926	A	G	criteria provided, single submitter	ClinGen:CA008131
Duplication	NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)	MEN1	Likely pathogenic	11	64573797	64573798	T	TA	criteria provided, single submitter	ClinGen:CA260475
single nucleotide variant	NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)	MEN1	Likely pathogenic	11	64575049	64575049	G	T	criteria provided, single submitter	ClinGen:CA009595