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.1998G>C (p.Lys666Asn)	RET	Pathogenic/Likely pathogenic	10	43610046	43610046	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA036775
Deletion	NM_020975.6(RET):c.2846del (p.Gly949fs)	RET	Pathogenic	10	43619159	43619159	AG	A	criteria provided, single submitter	ClinGen:CA009118
Deletion	NM_020975.6(RET):c.2839del (p.Thr946_Leu947insTer)	RET	Pathogenic	10	43619154	43619154	AC	A	criteria provided, single submitter	ClinGen:CA009114
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
Deletion	NM_020975.6(RET):c.2586_2592del (p.Met862fs)	RET	Pathogenic	10	43615170	43615176	GATGCAGT	G	criteria provided, single submitter	ClinGen:CA008926
Indel	NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)	RET	Pathogenic/Likely pathogenic	10	43615568	43615569	GC	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA008962
Indel	NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr)	RET	Pathogenic	10	43609076	43609077	GC	AT	criteria provided, single submitter	-
single nucleotide variant	NM_020975.6(RET):c.2752A>G (p.Met918Val)	RET	Pathogenic/Likely pathogenic	10	43617415	43617415	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009073
single nucleotide variant	NM_020975.6(RET):c.2410G>C (p.Val804Leu)	RET	Pathogenic	10	43614996	43614996	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008758,UniProtKB:P07949#VAR_006336
single nucleotide variant	NM_020975.6(RET):c.2304G>T (p.Glu768Asp)	RET	Pathogenic/Likely pathogenic	10	43613840	43613840	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008648,UniProtKB:P07949#VAR_006335