遺伝性褐色細胞腫・パラガングリオーマ

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.194T>A (p.Leu65His)	SDHB	Likely pathogenic	1	17371262	17371262	A	T	criteria provided, single submitter	ClinGen:CA10577680,UniProtKB:P21912#VAR_054379
single nucleotide variant	NM_000551.4(VHL):c.250G>C (p.Val84Leu)	VHL	Pathogenic	3	10183781	10183781	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578180,UniProtKB:P40337#VAR_005692
single nucleotide variant	NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)	SDHA	Pathogenic	5	226156	226156	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578627
single nucleotide variant	NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)	SDHA	Pathogenic	5	235345	235345	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3173122
single nucleotide variant	NM_004168.4(SDHA):c.1663+1G>T	SDHA	Pathogenic/Likely pathogenic	5	251219	251219	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3173314
single nucleotide variant	NM_004168.4(SDHA):c.1794+1G>A	SDHA	Likely pathogenic	5	251584	251584	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578632
single nucleotide variant	NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	RET	Pathogenic/Likely pathogenic	10	43610046	43610046	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA036775
Duplication	NM_003002.4(SDHD):c.147dup (p.His50fs)	SDHD	Pathogenic/Likely pathogenic	11	111958674	111958675	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579345
single nucleotide variant	NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn)	SDHD	Likely pathogenic	11	111965554	111965554	T	A	criteria provided, single submitter	ClinGen:CA10579347
single nucleotide variant	NM_002382.5(MAX):c.320C>A (p.Ser107Ter)	MAX	Pathogenic	14	65543357	65543357	G	T	criteria provided, single submitter	ClinGen:CA10579865