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.232A>G (p.Asn78Asp)	VHL	Pathogenic/Likely pathogenic	3	10183763	10183763	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.492G>C (p.Gln164His)	VHL	Pathogenic/Likely pathogenic	3	10191499	10191499	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017849.4(TMEM127):c.245-1G>C	TMEM127	Pathogenic/Likely pathogenic	2	96920736	96920736	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)	SDHA	Pathogenic/Likely pathogenic	5	218510	218511	C	CGGCGCCT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	SDHD	Pathogenic/Likely pathogenic	11	111957648	111957651	AGGCT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004168.4(SDHA):c.171dup (p.Val58fs)	SDHA	Pathogenic/Likely pathogenic	5	224494	224495	T	TA	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)	VHL	Pathogenic/Likely pathogenic	3	10191538	10191549	ACTGGACATCGT	TC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.245G>T (p.Arg82Leu)	VHL	Pathogenic/Likely pathogenic	3	10183776	10183776	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351750555
Deletion	NM_004168.4(SDHA):c.786del (p.Tyr263fs)	SDHA	Pathogenic/Likely pathogenic	5	231005	231005	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796487
Insertion	NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)	SDHB	Pathogenic/Likely pathogenic	1	17354338	17354339	T	TCCATA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795406