多発性内分泌腫瘍症1型、2A・2B型／甲状腺髄様がん

循環器・内分泌疾患

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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_000244.3(MEN1):c.1323G>T (p.Trp441Cys)	MEN1	Pathogenic/Likely pathogenic	11	64572548	64572548	C	A	criteria provided, multiple submitters, no conflicts	HGMD:CM053984
single nucleotide variant	NM_000244.3(MEN1):c.927+1G>A	MEN1	Pathogenic	11	64574482	64574482	C	T	criteria provided, multiple submitters, no conflicts	HGMD:CS991449
single nucleotide variant	NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	RET	Pathogenic	10	43609096	43609096	T	G	criteria provided, multiple submitters, no conflicts	OMIM Allelic Variant:164761.0001,UniProtKB (protein):P07949#VAR_006310
single nucleotide variant	NM_020975.6(RET):c.1900T>G (p.Cys634Gly)	RET	Pathogenic	10	43609948	43609948	T	G	criteria provided, multiple submitters, no conflicts	OMIM Allelic Variant:164761.0003,UniProtKB (protein):P07949#VAR_006323
single nucleotide variant	NM_020975.6(RET):c.1901G>T (p.Cys634Phe)	RET	Pathogenic	10	43609949	43609949	G	T	criteria provided, single submitter	OMIM Allelic Variant:164761.0006,UniProtKB (protein):P07949#VAR_006324
single nucleotide variant	NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	RET	Pathogenic	10	43609949	43609949	G	A	criteria provided, multiple submitters, no conflicts	OMIM Allelic Variant:164761.0004,UniProtKB (protein):P07949#VAR_006325
single nucleotide variant	NM_020975.6(RET):c.1853G>C (p.Cys618Ser)	RET	Pathogenic	10	43609097	43609097	G	C	criteria provided, multiple submitters, no conflicts	HGMD:CM941229,OMIM Allelic Variant:164761.0008,UniProtKB (protein):P07949#VAR_006313
single nucleotide variant	NM_020975.6(RET):c.1858T>C (p.Cys620Arg)	RET	Pathogenic	10	43609102	43609102	T	C	criteria provided, multiple submitters, no conflicts	OMIM Allelic Variant:164761.0009,UniProtKB (protein):P07949#VAR_006316
single nucleotide variant	NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)	RET	Pathogenic	10	43609103	43609103	G	A	criteria provided, multiple submitters, no conflicts	OMIM Allelic Variant:164761.0010,UniProtKB (protein):P07949#VAR_006319
single nucleotide variant	NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	RET	Pathogenic	10	43609948	43609948	T	C	criteria provided, multiple submitters, no conflicts	HGMD:CM930644,OMIM Allelic Variant:164761.0002,OMIM Allelic Variant:164761.0011,UniProtKB (protein):P07949#VAR_006326