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.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
single nucleotide variant	NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)	SDHD	Pathogenic	11	111965555	111965555	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016797,UniProtKB:O14521#VAR_017872,OMIM:602690.0007
single nucleotide variant	NM_003002.4(SDHD):c.340T>A (p.Tyr114Asn)	SDHD	Likely pathogenic	11	111965554	111965554	T	A	criteria provided, single submitter	ClinGen:CA10579347
Duplication	NM_003002.4(SDHD):c.336dup (p.Asp113Ter)	SDHD	Pathogenic	11	111965549	111965550	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	SDHD	Pathogenic	11	111965548	111965551	TACTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016955,OMIM:602690.0022
single nucleotide variant	NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)	SDHD	Pathogenic	11	111965539	111965539	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613252
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