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
Duplication	NM_003001.5(SDHC):c.376dup (p.Tyr126fs)	SDHC	Pathogenic	1	161326600	161326601	G	GT	criteria provided, single submitter	ClinGen:CA10577666
Deletion	NM_003000.3(SDHB):c.713del (p.Phe238fs)	SDHB	Pathogenic	1	17349155	17349155	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577669
Deletion	NM_003000.3(SDHB):c.642_642+6del	SDHB	Pathogenic/Likely pathogenic	1	17350462	17350468	ACCTCACC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577670
single nucleotide variant	NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	SDHB	Pathogenic/Likely pathogenic	1	17350470	17350470	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577671
single nucleotide variant	NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)	SDHB	Pathogenic	1	17350523	17350523	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577672,UniProtKB:P21912#VAR_035067
single nucleotide variant	NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)	SDHB	Pathogenic/Likely pathogenic	1	17350544	17350544	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577673
single nucleotide variant	NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)	SDHB	Pathogenic	1	17354339	17354339	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577675
Deletion	NM_003000.3(SDHB):c.442del (p.Ala148fs)	SDHB	Pathogenic	1	17354342	17354342	GC	G	criteria provided, single submitter	ClinGen:CA10577676
single nucleotide variant	NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)	SDHB	Pathogenic/Likely pathogenic	1	17359620	17359620	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577678
single nucleotide variant	NM_003000.3(SDHB):c.200+3G>C	SDHB	Likely pathogenic	1	17371253	17371253	C	G	criteria provided, single submitter	ClinGen:CA10577679