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_003002.4(SDHD):c.314+1G>T	SDHD	Pathogenic/Likely pathogenic	11	111959736	111959736	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617440
single nucleotide variant	NM_003002.4(SDHD):c.317G>T (p.Gly106Val)	SDHD	Pathogenic/Likely pathogenic	11	111965531	111965531	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382618730
Duplication	NM_002382.5(MAX):c.98dup (p.Arg35fs)	MAX	Pathogenic	14	65560498	65560499	T	TC	criteria provided, single submitter	ClinGen:CA658658264
Deletion	NM_004168.4(SDHA):c.757_758del (p.Val253fs)	SDHA	Pathogenic/Likely pathogenic	5	228434	228435	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657422
single nucleotide variant	NM_000551.4(VHL):c.278G>A (p.Gly93Asp)	VHL	Pathogenic	3	10183809	10183809	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750781
single nucleotide variant	NM_000551.4(VHL):c.313A>C (p.Thr105Pro)	VHL	Pathogenic	3	10183844	10183844	A	C	criteria provided, single submitter	ClinGen:CA351751116
single nucleotide variant	NM_000551.4(VHL):c.395A>C (p.Gln132Pro)	VHL	Pathogenic/Likely pathogenic	3	10188252	10188252	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753958
Indel	NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs)	VHL	Pathogenic	3	10191481	10191483	GAA	C	criteria provided, single submitter	ClinGen:CA658683298
Duplication	NM_000551.4(VHL):c.189dup (p.Arg64fs)	VHL	Pathogenic/Likely pathogenic	3	10183719	10183720	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683297
single nucleotide variant	NM_000551.4(VHL):c.355T>C (p.Phe119Leu)	VHL	Pathogenic	3	10188212	10188212	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753707