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_000551.4(VHL):c.256C>G (p.Pro86Ala)	VHL	Pathogenic/Likely pathogenic	3	10183787	10183787	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020174,UniProtKB:P40337#VAR_005693
Insertion	NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	VHL	Pathogenic/Likely pathogenic	3	10191508	10191509	G	GTTGTCCGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA020458
Duplication	NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)	SDHB	Pathogenic	1	17371343	17371344	C	CGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA221957
Deletion	NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)	TMEM127	Pathogenic	2	96920712	96920715	ACTGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269746
single nucleotide variant	NM_017849.4(TMEM127):c.3G>T (p.Met1Ile)	TMEM127	Pathogenic/Likely pathogenic	2	96931117	96931117	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269750
single nucleotide variant	NM_017849.4(TMEM127):c.409+1G>T	TMEM127	Pathogenic/Likely pathogenic	2	96920570	96920570	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269753
single nucleotide variant	NM_000551.4(VHL):c.445G>T (p.Ala149Ser)	VHL	Pathogenic	3	10188302	10188302	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020355
single nucleotide variant	NM_003000.3(SDHB):c.286+2T>A	SDHB	Pathogenic	1	17359553	17359553	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015691
single nucleotide variant	NM_003000.3(SDHB):c.386C>G (p.Pro129Arg)	SDHB	Likely pathogenic	1	17355132	17355132	G	C	criteria provided, single submitter	ClinGen:CA015807
Deletion	NM_017849.4(TMEM127):c.248del (p.Phe83fs)	TMEM127	Pathogenic	2	96920732	96920732	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA165536