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_000551.4(VHL):c.556G>T (p.Glu186Ter)	VHL	Likely pathogenic	3	10191563	10191563	G	T	criteria provided, single submitter	ClinGen:CA16604432
Deletion	NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	TMEM127	Pathogenic	2	96931000	96931003	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA269736
Duplication	NC_000001.10:g.(?_161310384)_(161310445_?)dup	SDHC	Likely pathogenic	1	161310384	161310445	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_161356677)_(161356840_?)del	SDHC	Pathogenic	1	161326467	161326630	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_17044761)_(17044888_?)del	SDHB	Pathogenic	1	17371256	17371383	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003001.5(SDHC):c.1A>G (p.Met1Val)	SDHC	Pathogenic	1	161284196	161284196	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA046289
single nucleotide variant	NM_003001.5(SDHC):c.374T>G (p.Met125Arg)	SDHC	Pathogenic	1	161326599	161326599	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609904
Duplication	NM_003000.3(SDHB):c.717dup (p.Leu240fs)	SDHB	Pathogenic	1	17349150	17349151	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609911
Deletion	NM_003000.3(SDHB):c.620_621del (p.Leu207fs)	SDHB	Pathogenic	1	17350489	17350490	CCA	C	criteria provided, single submitter	ClinGen:CA16609920
Deletion	NM_003000.3(SDHB):c.591del (p.Ser198fs)	SDHB	Pathogenic	1	17350519	17350519	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609921,OMIM:185470.0003