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.315-1G>A	SDHD	Likely pathogenic	11	111965528	111965528	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382618712
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_003002.4(SDHD):c.342T>A (p.Tyr114Ter)	SDHD	Pathogenic	11	111965556	111965556	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382618852
single nucleotide variant	NM_003002.4(SDHD):c.314+1G>A	SDHD	Pathogenic/Likely pathogenic	11	111959736	111959736	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617441
single nucleotide variant	NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)	SDHD	Pathogenic	11	111959660	111959660	T	G	criteria provided, single submitter	ClinGen:CA382617293
single nucleotide variant	NM_003002.4(SDHD):c.170-1G>T	SDHD	Pathogenic	11	111959590	111959590	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617149
single nucleotide variant	NM_003002.4(SDHD):c.148C>G (p.His50Asp)	SDHD	Likely pathogenic	11	111958676	111958676	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617089
Duplication	NM_003002.4(SDHD):c.388dup (p.Ala130fs)	SDHD	Pathogenic	11	111965600	111965601	T	TG	criteria provided, single submitter	ClinGen:CA645369586
Deletion	NM_003002.4(SDHD):c.352del (p.Asp118fs)	SDHD	Pathogenic	11	111965563	111965563	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369585
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