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.443del (p.Gly148fs)	SDHD	Likely pathogenic	11	111965655	111965655	TG	T	criteria provided, single submitter	ClinGen:CA017041,OMIM:602690.0009
single nucleotide variant	NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	SDHD	Likely pathogenic	11	111965630	111965630	T	G	criteria provided, single submitter	-
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
single nucleotide variant	NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	SDHD	Likely pathogenic	11	111965626	111965626	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017004
Deletion	NM_003002.4(SDHD):c.394del (p.Ser132fs)	SDHD	Pathogenic/Likely pathogenic	11	111965606	111965606	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613229
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.381del (p.Leu128fs)	SDHD	Pathogenic	11	111965593	111965593	AG	A	criteria provided, single submitter	ClinGen:CA645509540
single nucleotide variant	NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)	SDHD	Pathogenic/Likely pathogenic	11	111965575	111965575	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582872
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.342T>A (p.Tyr114Ter)	SDHD	Pathogenic	11	111965556	111965556	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382618852