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.203G>A (p.Cys68Tyr)	SDHB	Likely pathogenic	1	17359638	17359638	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015598
single nucleotide variant	NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)	SDHD	Pathogenic/Likely pathogenic	11	111959626	111959626	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016681,UniProtKB:O14521#VAR_074105,OMIM:602690.0029
single nucleotide variant	NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)	SDHB	Pathogenic/Likely pathogenic	1	17359581	17359581	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA015626,UniProtKB:P21912#VAR_018517
Deletion	NM_017849.4(TMEM127):c.308del (p.Gly103fs)	TMEM127	Likely pathogenic	2	96920672	96920672	GC	G	criteria provided, single submitter	ClinGen:CA273242
single nucleotide variant	NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	VHL	Pathogenic/Likely pathogenic	3	10183787	10183787	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020180,UniProtKB:P40337#VAR_005696
Deletion	NM_000551.3(VHL):c.-75_-55del	VHL	Likely pathogenic	3	10183457	10183477	AGCGCGCACGCAGCTCCGCCCC	A	criteria provided, single submitter	ClinGen:CA020542
Deletion	NM_003002.3(SDHD):c.(?_286)_(387_?)del	SDHD	Likely pathogenic	11	111965980	111966081	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	VHL	Pathogenic	3	10188208	10188208	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020294,UniProtKB:P40337#VAR_005725
Deletion	NM_000551.4(VHL):c.180del (p.Val62fs)	VHL	Pathogenic	3	10183710	10183710	CG	C	criteria provided, single submitter	ClinGen:CA020069
Deletion	NM_000551.4(VHL):c.192del (p.Ser65fs)	VHL	Pathogenic/Likely pathogenic	3	10183723	10183723	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020094