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
Deletion	NM_004168.4(SDHA):c.688del (p.Glu230fs)	SDHA	Pathogenic/Likely pathogenic	5	228363	228363	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657421
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
single nucleotide variant	NM_017849.4(TMEM127):c.410-2A>G	TMEM127	Pathogenic/Likely pathogenic	2	96919855	96919855	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347653204
single nucleotide variant	NM_003002.4(SDHD):c.314+1G>A	SDHD	Pathogenic/Likely pathogenic	11	111959736	111959736	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617441
single nucleotide variant	NM_003000.3(SDHB):c.1A>T (p.Met1Leu)	SDHB	Pathogenic/Likely pathogenic	1	17380514	17380514	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338230894
single nucleotide variant	NM_003000.3(SDHB):c.3G>A (p.Met1Ile)	SDHB	Pathogenic/Likely pathogenic	1	17380512	17380512	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338230889
Duplication	NM_003000.3(SDHB):c.71dup (p.Ala25fs)	SDHB	Pathogenic/Likely pathogenic	1	17380443	17380444	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369145
single nucleotide variant	NM_003000.3(SDHB):c.73-1G>A	SDHB	Pathogenic/Likely pathogenic	1	17371384	17371384	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338228458
single nucleotide variant	NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)	SDHB	Pathogenic/Likely pathogenic	1	17355231	17355231	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA089580
single nucleotide variant	NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)	SDHC	Pathogenic/Likely pathogenic	1	161326612	161326612	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA31433613