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_000551.4(VHL):c.463+2T>C	VHL	Pathogenic	3	10188322	10188322	T	C	criteria provided, single submitter	-
Deletion	NM_017849.4(TMEM127):c.337del (p.Leu113fs)	TMEM127	Pathogenic	2	96920643	96920643	AG	A	criteria provided, single submitter	-
Duplication	NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)	SDHA	Pathogenic	5	224576	224577	G	GTTTA	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)	SDHA	Pathogenic	5	231100	231100	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003002.4(SDHD):c.3G>A (p.Met1Ile)	SDHD	Pathogenic	11	111957634	111957634	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	SDHD	Likely pathogenic	11	111965630	111965630	T	G	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_112094795)_(112094980_?)del	SDHD	Pathogenic	11	111965519	111965704	na	na	criteria provided, single submitter	-
Deletion	NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)	SDHA	Pathogenic	5	228321	228322	CTA	C	criteria provided, single submitter	-
Inversion	NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)	SDHA	Pathogenic	5	251541	251542	AC	GT	criteria provided, single submitter	-
Indel	NM_003002.4(SDHD):c.53-1_53delinsTT	SDHD	Likely pathogenic	11	111958580	111958581	GC	TT	criteria provided, single submitter	-