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.1891G>T (p.Asp631Tyr)	RET	Pathogenic	10	43609939	43609939	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008198
single nucleotide variant	NM_020975.6(RET):c.1947G>A (p.Ser649=)	RET	Pathogenic/Likely pathogenic	10	43609995	43609995	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008487
single nucleotide variant	NM_020975.6(RET):c.1996A>G (p.Lys666Glu)	RET	Pathogenic/Likely pathogenic	10	43610044	43610044	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008502
single nucleotide variant	NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	RET	Pathogenic/Likely pathogenic	10	43610046	43610046	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008525
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_002382.5(MAX):c.1A>G (p.Met1Val)	MAX	Pathogenic	14	65569057	65569057	T	C	criteria provided, single submitter	ClinGen:CA128636,OMIM:154950.0001
single nucleotide variant	NM_002382.5(MAX):c.223C>T (p.Arg75Ter)	MAX	Pathogenic	14	65544703	65544703	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128639,OMIM:154950.0002
single nucleotide variant	NM_002382.5(MAX):c.97C>T (p.Arg33Ter)	MAX	Pathogenic	14	65560500	65560500	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128642,OMIM:154950.0004
single nucleotide variant	NM_003000.3(SDHB):c.423+1G>A	SDHB	Pathogenic	1	17355094	17355094	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015862,OMIM:185470.0019