遺伝性褐色細胞腫・パラガングリオーマ

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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.1827C>G (p.Cys609Trp)	RET	Pathogenic	10	43609071	43609071	C	G	criteria provided, single submitter	UniProtKB:P07949#VAR_006307
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
single nucleotide variant	NM_020975.6(RET):c.1831T>G (p.Cys611Gly)	RET	Pathogenic	10	43609075	43609075	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007883,UniProtKB:P07949#VAR_009472
single nucleotide variant	NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)	RET	Pathogenic	10	43609076	43609076	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007934,UniProtKB:P07949#VAR_006309
single nucleotide variant	NM_020975.6(RET):c.1832G>T (p.Cys611Phe)	RET	Pathogenic	10	43609076	43609076	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007949
single nucleotide variant	NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)	RET	Pathogenic	10	43609097	43609097	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008005,UniProtKB:P07949#VAR_006314
single nucleotide variant	NM_020975.6(RET):c.1853G>T (p.Cys618Phe)	RET	Pathogenic	10	43609097	43609097	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008022,UniProtKB:P07949#VAR_006312
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