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
Deletion	NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	SDHD	Pathogenic/Likely pathogenic	11	111957648	111957651	AGGCT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_017841.4(SDHAF2):c.177dup (p.Asp60Ter)	SDHAF2	Pathogenic	11	61205236	61205237	C	CT	criteria provided, single submitter	ClinGen:CA658797653
Deletion	NC_000011.10:g.(?_112094799)_(112094976_?)del	SDHD	Pathogenic	11	111965523	111965700	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003002.4(SDHD):c.317G>T (p.Gly106Val)	SDHD	Pathogenic/Likely pathogenic	11	111965531	111965531	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382618730
single nucleotide variant	NM_003002.4(SDHD):c.314+1G>T	SDHD	Pathogenic/Likely pathogenic	11	111959736	111959736	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382617440
Indel	NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val)	SDHD	Likely pathogenic	11	111965657	111965658	GC	TT	criteria provided, single submitter	ClinGen:CA658658107
Deletion	NM_003002.4(SDHD):c.213_215del (p.Val72del)	SDHD	Likely pathogenic	11	111959632	111959634	GGTT	G	criteria provided, single submitter	ClinGen:CA658658103
single nucleotide variant	NM_003002.4(SDHD):c.209G>T (p.Arg70Met)	SDHD	Likely pathogenic	11	111959630	111959630	G	T	criteria provided, single submitter	ClinGen:CA382617235
single nucleotide variant	NM_017841.4(SDHAF2):c.260+1G>A	SDHAF2	Likely pathogenic	11	61205321	61205321	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA058142
single nucleotide variant	NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	SDHD	Likely pathogenic	11	111965627	111965627	G	T	criteria provided, single submitter	ClinGen:CA382619290