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
Duplication	NM_000551.4(VHL):c.422dup (p.Asn141fs)	VHL	Pathogenic	3	10188277	10188278	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611276
single nucleotide variant	NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	VHL	Pathogenic	3	10191495	10191495	T	G	criteria provided, single submitter	ClinGen:CA16611277
single nucleotide variant	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA	Pathogenic/Likely pathogenic	5	218472	218472	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611812
Deletion	NM_004168.4(SDHA):c.762_770+17del	SDHA	Pathogenic/Likely pathogenic	5	228439	228464	GTTGCCACAGGGTAGGAATCTCATTTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611876
single nucleotide variant	NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)	SDHA	Pathogenic/Likely pathogenic	5	230998	230998	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611878
Duplication	NM_004168.4(SDHA):c.1615dup (p.Ile539fs)	SDHA	Pathogenic	5	251166	251167	G	GA	criteria provided, single submitter	ClinGen:CA16611891
single nucleotide variant	NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)	SDHA	Pathogenic	5	233681	233681	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611943
single nucleotide variant	NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)	SDHA	Likely pathogenic	5	251555	251555	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3173350
single nucleotide variant	NM_020975.6(RET):c.2689C>T (p.Arg897Ter)	RET	Pathogenic	10	43615610	43615610	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612889
single nucleotide variant	NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)	SDHD	Pathogenic	11	111965529	111965529	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613226