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.342T>A (p.Tyr114Ter)	SDHD	Pathogenic	11	111965556	111965556	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382618852
Deletion	NM_003002.4(SDHD):c.381del (p.Leu128fs)	SDHD	Pathogenic	11	111965593	111965593	AG	A	criteria provided, single submitter	ClinGen:CA645509540
single nucleotide variant	NM_003000.3(SDHB):c.642+2T>G	SDHB	Pathogenic	1	17350466	17350466	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338270919
single nucleotide variant	NM_017849.4(TMEM127):c.410-2A>G	TMEM127	Pathogenic/Likely pathogenic	2	96919855	96919855	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347653204
single nucleotide variant	NM_003002.4(SDHD):c.315-1G>A	SDHD	Likely pathogenic	11	111965528	111965528	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382618712
Deletion	NC_000001.11:g.(?_17018875)_(17044894_?)del	SDHB	Pathogenic	1	17345370	17371389	na	na	criteria provided, single submitter	-
Deletion	NC_000001.10:g.(?_17380437)_(17380520_?)del	SDHB	Pathogenic	1	17380437	17380520	na	na	criteria provided, single submitter	-
Deletion	NM_003000.3(SDHB):c.756_765+4del	SDHB	Likely pathogenic	1	17349099	17349112	CGTACCTTAGGACAG	C	criteria provided, single submitter	ClinGen:CA658656880
single nucleotide variant	NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)	SDHB	Pathogenic	1	17349171	17349171	T	A	criteria provided, single submitter	ClinGen:CA338270321
single nucleotide variant	NM_003000.3(SDHB):c.540+1G>A	SDHB	Likely pathogenic	1	17354243	17354243	C	T	criteria provided, single submitter	ClinGen:CA338272394