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.1858T>A (p.Cys620Ser)	RET	Pathogenic	10	43609102	43609102	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008047,UniProtKB:P07949#VAR_006317
single nucleotide variant	NM_020975.6(RET):c.1900T>A (p.Cys634Ser)	RET	Pathogenic	10	43609948	43609948	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008307,UniProtKB:P07949#VAR_006327
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
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.2752A>G (p.Met918Val)	RET	Pathogenic/Likely pathogenic	10	43617415	43617415	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009073
Indel	NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr)	RET	Pathogenic	10	43609076	43609077	GC	AT	criteria provided, single submitter	-
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
single nucleotide variant	NM_003000.3(SDHB):c.143A>T (p.Asp48Val)	SDHB	Pathogenic/Likely pathogenic	1	17371313	17371313	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015528,OMIM:185470.0020
single nucleotide variant	NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)	SDHC	Pathogenic	1	161293426	161293426	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011542
single nucleotide variant	NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	VHL	Pathogenic	3	10183725	10183725	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020099,UniProtKB:P40337#VAR_005673