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_003000.3(SDHB):c.502C>T (p.Gln168Ter)	SDHB	Pathogenic	1	17354282	17354282	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338272662
single nucleotide variant	NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr)	SDHB	Likely pathogenic	1	17355225	17355225	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338275198
Insertion	NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)	SDHB	Pathogenic	1	17349182	17349183	T	TCCTCTGTGAAGCG	criteria provided, single submitter	ClinGen:CA521037681
Deletion	NM_003000.3(SDHB):c.540_540+13del	SDHB	Likely pathogenic	1	17354231	17354244	TAGGGACTAATGACC	T	criteria provided, single submitter	ClinGen:CA658656888
Deletion	NM_003000.3(SDHB):c.190del (p.Asp64fs)	SDHB	Pathogenic	1	17371266	17371266	TC	T	criteria provided, single submitter	ClinGen:CA658656890
single nucleotide variant	NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)	TMEM127	Pathogenic	2	96919794	96919794	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1777299
Deletion	NM_017849.4(TMEM127):c.124_125del (p.Thr42fs)	TMEM127	Pathogenic	2	96930995	96930996	CGT	C	criteria provided, single submitter	ClinGen:CA658657049
single nucleotide variant	NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	VHL	Pathogenic	3	10183793	10183793	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750671
Deletion	NM_000551.4(VHL):c.377del (p.Asp126fs)	VHL	Pathogenic	3	10188234	10188234	GA	G	criteria provided, single submitter	ClinGen:CA658655750
single nucleotide variant	NM_000551.4(VHL):c.492G>T (p.Gln164His)	VHL	Pathogenic/Likely pathogenic	3	10191499	10191499	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756157