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_003000.3(SDHB):c.654G>A (p.Trp218Ter)	SDHB	Pathogenic	1	17349214	17349214	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA18662278
single nucleotide variant	NM_003000.3(SDHB):c.642+1G>C	SDHB	Likely pathogenic	1	17350467	17350467	C	G	criteria provided, single submitter	ClinGen:CA338270920
Deletion	NM_003000.3(SDHB):c.639del (p.Met213fs)	SDHB	Pathogenic	1	17350471	17350471	GC	G	criteria provided, single submitter	ClinGen:CA645369141
Duplication	NM_003000.3(SDHB):c.605_609dup (p.Asp204fs)	SDHB	Pathogenic	1	17350500	17350501	C	CTCCGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369142
Duplication	NM_003000.3(SDHB):c.605dup (p.Asn202fs)	SDHB	Pathogenic	1	17350504	17350505	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369143
Indel	NM_003000.3(SDHB):c.595_604delinsGG (p.Tyr199fs)	SDHB	Pathogenic	1	17350506	17350515	TCCACCAGTA	CC	criteria provided, single submitter	ClinGen:CA645369144
single nucleotide variant	NM_003000.3(SDHB):c.424-1G>A	SDHB	Pathogenic	1	17354361	17354361	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338273531
single nucleotide variant	NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)	SDHB	Pathogenic/Likely pathogenic	1	17355231	17355231	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA089580
single nucleotide variant	NM_003000.3(SDHB):c.278G>T (p.Cys93Phe)	SDHB	Likely pathogenic	1	17359563	17359563	C	A	criteria provided, single submitter	ClinGen:CA338276410
single nucleotide variant	NM_003000.3(SDHB):c.73-1G>A	SDHB	Pathogenic/Likely pathogenic	1	17371384	17371384	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338228458