遺伝性褐色細胞腫・パラガングリオーマ

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.238A>G (p.Ser80Gly)	VHL	Pathogenic/Likely pathogenic	3	10183769	10183769	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020142
Deletion	NM_003002.4(SDHD):c.298_301del (p.Thr100fs)	SDHD	Pathogenic	11	111959716	111959719	CCTCA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016654
single nucleotide variant	NM_003002.4(SDHD):c.304C>A (p.His102Asn)	SDHD	Pathogenic/Likely pathogenic	11	111959725	111959725	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016659
single nucleotide variant	NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	SDHD	Likely pathogenic	11	111965626	111965626	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017004
single nucleotide variant	NM_002382.5(MAX):c.295+1G>A	MAX	Pathogenic	14	65544630	65544630	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196421,OMIM:154950.0003
single nucleotide variant	NM_002382.5(MAX):c.200C>A (p.Ala67Asp)	MAX	Pathogenic	14	65544726	65544726	G	T	criteria provided, single submitter	ClinGen:CA192517
single nucleotide variant	NM_002382.5(MAX):c.171+2T>A	MAX	Likely pathogenic	14	65560424	65560424	A	T	criteria provided, single submitter	ClinGen:CA195070
Deletion	NM_003001.5(SDHC):c.6del (p.Ala3fs)	SDHC	Pathogenic	1	161284201	161284201	CT	C	criteria provided, single submitter	ClinGen:CA016383
single nucleotide variant	NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)	SDHC	Pathogenic/Likely pathogenic	1	161310428	161310428	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016245
single nucleotide variant	NM_000551.4(VHL):c.245G>C (p.Arg82Pro)	VHL	Pathogenic	3	10183776	10183776	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020159,UniProtKB:P40337#VAR_005690