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
Duplication	NM_002382.5(MAX):c.233dup (p.Asn78fs)	MAX	Pathogenic/Likely pathogenic	14	65544692	65544693	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA166109
Deletion	NM_004168.4(SDHA):c.667del (p.Asp223fs)	SDHA	Pathogenic/Likely pathogenic	5	228344	228344	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166673
single nucleotide variant	NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)	SDHB	Pathogenic	1	17350535	17350535	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015982
single nucleotide variant	NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)	SDHD	Pathogenic	11	111958683	111958683	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016773
single nucleotide variant	NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)	SDHB	Pathogenic/Likely pathogenic	1	17359555	17359555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015701
single nucleotide variant	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA	Pathogenic/Likely pathogenic	5	223624	223624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168793,OMIM:600857.0008
single nucleotide variant	NM_003000.3(SDHB):c.689G>A (p.Arg230His)	SDHB	Pathogenic/Likely pathogenic	1	17349179	17349179	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016085,OMIM:185470.0023
Deletion	NM_003000.3(SDHB):c.607_616del (p.Gly203fs)	SDHB	Pathogenic	1	17350494	17350503	TATTTGTCTCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016035
single nucleotide variant	NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	SDHB	Pathogenic	1	17371320	17371320	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015507
single nucleotide variant	NM_003000.3(SDHB):c.72+1G>T	SDHB	Pathogenic/Likely pathogenic	1	17380442	17380442	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016145,OMIM:185470.0012