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.1858T>G (p.Cys620Gly)	RET	Pathogenic	10	43609102	43609102	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008066,UniProtKB:P07949#VAR_006315
single nucleotide variant	NM_020975.6(RET):c.1888T>C (p.Cys630Arg)	RET	Pathogenic	10	43609936	43609936	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008145
single nucleotide variant	NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)	RET	Pathogenic	10	43609937	43609937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008154,UniProtKB:P07949#VAR_009478
single nucleotide variant	NM_020975.6(RET):c.1891G>T (p.Asp631Tyr)	RET	Pathogenic	10	43609939	43609939	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008198
single nucleotide variant	NM_020975.6(RET):c.1947G>A (p.Ser649=)	RET	Pathogenic/Likely pathogenic	10	43609995	43609995	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008487
single nucleotide variant	NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	RET	Pathogenic/Likely pathogenic	10	43610044	43610044	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008502
single nucleotide variant	NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	RET	Pathogenic/Likely pathogenic	10	43610046	43610046	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008525
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