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_020975.6(RET):c.1879+1G>A	RET	Pathogenic/Likely pathogenic	10	43609124	43609124	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002382.5(MAX):c.289C>T (p.Gln97Ter)	MAX	Pathogenic/Likely pathogenic	14	65544637	65544637	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003002.4(SDHD):c.305A>G (p.His102Arg)	SDHD	Pathogenic/Likely pathogenic	11	111959726	111959726	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004168.4(SDHA):c.1579del (p.Arg527fs)	SDHA	Pathogenic/Likely pathogenic	5	251133	251133	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.344A>G (p.His115Arg)	VHL	Pathogenic/Likely pathogenic	3	10188201	10188201	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)	VHL	Pathogenic/Likely pathogenic	3	10183867	10183867	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	VHL	Pathogenic/Likely pathogenic	3	10191570	10191570	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.509T>A (p.Val170Asp)	VHL	Pathogenic/Likely pathogenic	3	10191516	10191516	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.462del (p.Val155fs)	VHL	Pathogenic/Likely pathogenic	3	10188319	10188319	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.433_439del (p.Gln145fs)	VHL	Pathogenic/Likely pathogenic	3	10188289	10188295	GACAGCCT	G	criteria provided, multiple submitters, no conflicts	-