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_020975.6(RET):c.2586_2592del (p.Met862fs)	RET	Pathogenic	10	43615170	43615176	GATGCAGT	G	criteria provided, single submitter	ClinGen:CA008926
Deletion	NM_000551.4(VHL):c.449del (p.Asn150fs)	VHL	Pathogenic/Likely pathogenic	3	10188305	10188305	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020360
single nucleotide variant	NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	VHL	Pathogenic	3	10191593	10191593	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020507
single nucleotide variant	NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	SDHB	Pathogenic	1	17355175	17355175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015763
Deletion	NM_003000.3(SDHB):c.718_721del (p.Leu240fs)	SDHB	Pathogenic	1	17349147	17349150	TATAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016135
single nucleotide variant	NM_003000.3(SDHB):c.526G>T (p.Glu176Ter)	SDHB	Pathogenic	1	17354258	17354258	C	A	criteria provided, single submitter	ClinGen:CA015940
Deletion	NM_003000.3(SDHB):c.481del (p.Asp161fs)	SDHB	Pathogenic	1	17354303	17354303	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015897
Duplication	NM_003000.3(SDHB):c.330_333dup (p.Ala112fs)	SDHB	Pathogenic	1	17355184	17355185	C	CTAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA308155
Duplication	NM_003000.3(SDHB):c.210dup (p.Met71fs)	SDHB	Pathogenic	1	17359630	17359631	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA308154
Indel	NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)	SDHB	Pathogenic	1	17380473	17380474	C	CGGCAACCGGCGCCTCAAGGAGAG	criteria provided, single submitter	-