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_004168.4(SDHA):c.1A>C (p.Met1Leu)	SDHA	Pathogenic	5	218471	218471	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA119881,OMIM:600857.0003
single nucleotide variant	NM_004168.4(SDHA):c.1A>G (p.Met1Val)	SDHA	Pathogenic/Likely pathogenic	5	218471	218471	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172674
single nucleotide variant	NM_004168.4(SDHA):c.1A>T (p.Met1Leu)	SDHA	Pathogenic/Likely pathogenic	5	218471	218471	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042099
Deletion	NM_004168.4(SDHA):c.1del (p.Met1fs)	SDHA	Pathogenic	5	218471	218471	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293865
single nucleotide variant	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA	Pathogenic/Likely pathogenic	5	218472	218472	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611812
single nucleotide variant	NM_004168.4(SDHA):c.2T>G (p.Met1Arg)	SDHA	Pathogenic/Likely pathogenic	5	218472	218472	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618195
single nucleotide variant	NM_004168.4(SDHA):c.2T>A (p.Met1Lys)	SDHA	Pathogenic	5	218472	218472	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)	SDHA	Pathogenic	5	218475	218475	C	A	criteria provided, single submitter	-
Deletion	NM_004168.4(SDHA):c.28del (p.Leu10fs)	SDHA	Pathogenic	5	218498	218498	GC	G	criteria provided, single submitter	-
Duplication	NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)	SDHA	Pathogenic/Likely pathogenic	5	218510	218511	C	CGGCGCCT	criteria provided, multiple submitters, no conflicts	-