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_000551.4(VHL):c.179_192del (p.Arg60fs)	VHL	Pathogenic/Likely pathogenic	3	10183707	10183720	CCGCGGCCCGTGCTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617784
Deletion	NM_000551.4(VHL):c.482_486del (p.Arg161fs)	VHL	Pathogenic	3	10191487	10191491	AGCGAT	A	criteria provided, single submitter	ClinGen:CA16617791
single nucleotide variant	NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	VHL	Pathogenic/Likely pathogenic	3	10191558	10191558	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617792
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
Indel	NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)	SDHA	Pathogenic	5	240566	240567	CG	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618198
single nucleotide variant	NM_003002.4(SDHD):c.1A>T (p.Met1Leu)	SDHD	Pathogenic	11	111957632	111957632	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA070834
single nucleotide variant	NM_003002.4(SDHD):c.275A>T (p.Asp92Val)	SDHD	Likely pathogenic	11	111959696	111959696	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619272
Deletion	NM_004168.4(SDHA):c.1del (p.Met1fs)	SDHA	Pathogenic	5	218471	218471	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293865
Deletion	NM_000551.4(VHL):c.163del (p.Glu55fs)	VHL	Pathogenic	3	10183693	10183693	TG	T	criteria provided, single submitter	ClinGen:CA432536363
single nucleotide variant	NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	VHL	Pathogenic	3	10183739	10183739	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602179