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.563T>C (p.Leu188Pro)	VHL	Pathogenic/Likely pathogenic	3	10191570	10191570	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000551.4(VHL):c.565del (p.Glu189fs)	VHL	Likely pathogenic	3	10191571	10191571	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	VHL	Likely pathogenic	3	10191649	10191649	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	VHL	Likely pathogenic	3	10191649	10191649	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.331A>G (p.Ser111Gly)	VHL	Pathogenic	3	10183862	10183862	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_003001.5(SDHC):c.1A>T (p.Met1Leu)	SDHC	Pathogenic	1	161284196	161284196	A	T	criteria provided, single submitter	-
Duplication	NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)	SDHB	Pathogenic	1	17349160	17349161	G	GTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCA	criteria provided, single submitter	-
single nucleotide variant	NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)	SDHB	Pathogenic	1	17349215	17349215	C	T	criteria provided, single submitter	-
Duplication	NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)	SDHB	Pathogenic	1	17350487	17350488	C	CCCAGATATTTGTCT	criteria provided, single submitter	-