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_003000.3(SDHB):c.72+1G>A	SDHB	Pathogenic	1	17380442	17380442	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338230578
Duplication	NM_003000.3(SDHB):c.71dup (p.Ala25fs)	SDHB	Pathogenic/Likely pathogenic	1	17380443	17380444	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369145
Duplication	NM_003000.3(SDHB):c.17_42dup (p.Ala15delinsProSerProTer)	SDHB	Pathogenic	1	17380472	17380473	C	CCGGCAACCGGCGCCTCAAGGAGAGGG	criteria provided, single submitter	ClinGen:CA645369146
single nucleotide variant	NM_003000.3(SDHB):c.3G>A (p.Met1Ile)	SDHB	Pathogenic/Likely pathogenic	1	17380512	17380512	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338230889
single nucleotide variant	NM_003000.3(SDHB):c.1A>T (p.Met1Leu)	SDHB	Pathogenic/Likely pathogenic	1	17380514	17380514	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338230894
single nucleotide variant	NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)	SDHD	Pathogenic	11	111959735	111959735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617436
Deletion	NM_003002.4(SDHD):c.352del (p.Asp118fs)	SDHD	Pathogenic	11	111965563	111965563	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369585
Duplication	NM_003002.4(SDHD):c.388dup (p.Ala130fs)	SDHD	Pathogenic	11	111965600	111965601	T	TG	criteria provided, single submitter	ClinGen:CA645369586
Insertion	NM_000551.4(VHL):c.356_357insGG (p.Phe119fs)	VHL	Likely pathogenic	3	10188213	10188214	T	TGG	criteria provided, single submitter	ClinGen:CA645369328
single nucleotide variant	NM_020975.6(RET):c.3288T>G (p.Tyr1096Ter)	RET	Likely pathogenic	10	43623660	43623660	T	G	criteria provided, single submitter	ClinGen:CA376559149