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
Indel	NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer)	RET	Likely pathogenic	10	43610046	43610046	G	TTCT	criteria provided, single submitter	-
single nucleotide variant	NM_020975.6(RET):c.2711C>T (p.Ser904Phe)	RET	Likely pathogenic	10	43615632	43615632	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009027
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.371C>T (p.Thr124Ile)	VHL	Likely pathogenic	3	10188228	10188228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020308
single nucleotide variant	NM_003000.3(SDHB):c.386C>G (p.Pro129Arg)	SDHB	Likely pathogenic	1	17355132	17355132	G	C	criteria provided, single submitter	ClinGen:CA015807
single nucleotide variant	NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)	SDHB	Likely pathogenic	1	17359638	17359638	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015598
Deletion	NM_017849.4(TMEM127):c.308del (p.Gly103fs)	TMEM127	Likely pathogenic	2	96920672	96920672	GC	G	criteria provided, single submitter	ClinGen:CA273242
Deletion	NM_000551.3(VHL):c.-75_-55del	VHL	Likely pathogenic	3	10183457	10183477	AGCGCGCACGCAGCTCCGCCCC	A	criteria provided, single submitter	ClinGen:CA020542
Deletion	NM_003002.3(SDHD):c.(?_286)_(387_?)del	SDHD	Likely pathogenic	11	111965980	111966081	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003001.5(SDHC):c.78-1G>A	SDHC	Likely pathogenic	1	161298185	161298185	G	A	criteria provided, single submitter	ClinGen:CA011508