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_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
Duplication	NM_002382.5(MAX):c.233dup (p.Asn78fs)	MAX	Pathogenic/Likely pathogenic	14	65544692	65544693	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA166109
single nucleotide variant	NM_002382.5(MAX):c.295+1G>A	MAX	Pathogenic	14	65544630	65544630	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196421,OMIM:154950.0003
single nucleotide variant	NM_002382.5(MAX):c.200C>A (p.Ala67Asp)	MAX	Pathogenic	14	65544726	65544726	G	T	criteria provided, single submitter	ClinGen:CA192517
single nucleotide variant	NM_002382.5(MAX):c.171+2T>A	MAX	Likely pathogenic	14	65560424	65560424	A	T	criteria provided, single submitter	ClinGen:CA195070
single nucleotide variant	NM_002382.5(MAX):c.320C>A (p.Ser107Ter)	MAX	Pathogenic	14	65543357	65543357	G	T	criteria provided, single submitter	ClinGen:CA10579865
single nucleotide variant	NM_002382.5(MAX):c.212T>A (p.Ile71Asn)	MAX	Likely pathogenic	14	65544714	65544714	A	T	criteria provided, single submitter	ClinGen:CA10579867
Deletion	NC_000014.9:g.(?_65101546)_(65102544_?)del	MAX	Pathogenic	14	65568264	65569262	na	na	criteria provided, single submitter	-