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_003001.5(SDHC):c.377A>G (p.Tyr126Cys)	SDHC	Pathogenic/Likely pathogenic	1	161326602	161326602	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA31433576
single nucleotide variant	NM_003001.5(SDHC):c.21-2A>G	SDHC	Pathogenic/Likely pathogenic	1	161293402	161293402	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343359222
single nucleotide variant	NM_000551.4(VHL):c.581T>G (p.Val194Gly)	VHL	Pathogenic/Likely pathogenic	3	10191588	10191588	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756475
single nucleotide variant	NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	VHL	Pathogenic/Likely pathogenic	3	10191507	10191507	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351756177
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_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
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
Duplication	NM_017849.4(TMEM127):c.532dup (p.Tyr178fs)	TMEM127	Pathogenic/Likely pathogenic	2	96919730	96919731	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617773
Deletion	NM_003002.4(SDHD):c.394del (p.Ser132fs)	SDHD	Pathogenic/Likely pathogenic	11	111965606	111965606	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613229
single nucleotide variant	NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)	SDHA	Pathogenic/Likely pathogenic	5	230998	230998	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611878