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_004168.4(SDHA):c.1765C>T (p.Arg589Trp)	SDHA	Pathogenic/Likely pathogenic	5	251554	251554	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342723,UniProtKB:P31040#VAR_065975,OMIM:600857.0005
single nucleotide variant	NM_020975.6(RET):c.1880-2A>G	RET	Likely pathogenic	10	43609926	43609926	A	G	criteria provided, single submitter	ClinGen:CA008131
single nucleotide variant	NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	VHL	Pathogenic/Likely pathogenic	3	10183773	10183773	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020154
single nucleotide variant	NM_000551.4(VHL):c.320G>C (p.Arg107Pro)	VHL	Pathogenic/Likely pathogenic	3	10183851	10183851	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020262,UniProtKB:P40337#VAR_005713
single nucleotide variant	NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	VHL	Likely pathogenic	3	10188228	10188228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020308
single nucleotide variant	NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	VHL	Pathogenic/Likely pathogenic	3	10191531	10191531	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020462
single nucleotide variant	NM_020975.6(RET):c.1826G>T (p.Cys609Phe)	RET	Pathogenic	10	43609070	43609070	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007843
single nucleotide variant	NM_020975.6(RET):c.1826G>C (p.Cys609Ser)	RET	Pathogenic	10	43609070	43609070	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020975.6(RET):c.1831T>A (p.Cys611Ser)	RET	Pathogenic	10	43609075	43609075	T	A	criteria provided, single submitter	UniProtKB:P07949#VAR_009474
single nucleotide variant	NM_020975.6(RET):c.1852T>A (p.Cys618Ser)	RET	Pathogenic	10	43609096	43609096	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007974,UniProtKB:P07949#VAR_006313