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_017849.4(TMEM127):c.283del (p.Val95fs)	TMEM127	Pathogenic	2	96920697	96920697	AC	A	criteria provided, single submitter	ClinGen:CA658657048
single nucleotide variant	NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter)	TMEM127	Pathogenic	2	96930962	96930962	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347656002
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_004168.4(SDHA):c.1468G>T (p.Glu490Ter)	SDHA	Pathogenic/Likely pathogenic	5	240508	240508	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA359014231
single nucleotide variant	NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)	SDHA	Likely pathogenic	5	226103	226103	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172879
single nucleotide variant	NM_004168.4(SDHA):c.1064+2T>A	SDHA	Likely pathogenic	5	233762	233762	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA359013038
Deletion	NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)	SDHA	Pathogenic	5	225598	225598	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657419
Deletion	NM_004168.4(SDHA):c.1769del (p.Gly590fs)	SDHA	Likely pathogenic	5	251555	251555	CG	C	criteria provided, single submitter	ClinGen:CA658657413
single nucleotide variant	NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	SDHD	Likely pathogenic	11	111965627	111965627	G	T	criteria provided, single submitter	ClinGen:CA382619290
single nucleotide variant	NM_017841.4(SDHAF2):c.260+1G>A	SDHAF2	Likely pathogenic	11	61205321	61205321	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA058142