網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000283.4(PDE6B):c.1591C>T (p.Arg531Ter)	PDE6B	Pathogenic	4	654379	654379	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256717,OMIM:180072.0002
single nucleotide variant	NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr)	PDE6B	Pathogenic/Likely pathogenic	4	655977	655977	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256720,UniProtKB:P35913#VAR_006050,OMIM:180072.0004
single nucleotide variant	NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)	PDE6A	Pathogenic	5	149265917	149265917	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256725,OMIM:180071.0001
single nucleotide variant	NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)	PDE6A	Likely pathogenic	5	149274791	149274791	C	T	criteria provided, single submitter	ClinGen:CA256728,OMIM:180071.0003
single nucleotide variant	NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	RPE65	Pathogenic	1	68905269	68905269	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226577,OMIM:180069.0002
single nucleotide variant	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65	Pathogenic	1	68910541	68910541	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226531,UniProtKB:Q16518#VAR_017130,OMIM:180069.0006
single nucleotide variant	NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	RPE65	Pathogenic	1	68903911	68903911	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256730,UniProtKB:Q16518#VAR_017138,OMIM:180069.0003
single nucleotide variant	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	RPE65	Pathogenic/Likely pathogenic	1	68903976	68903976	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226472,UniProtKB:Q16518#VAR_017137,OMIM:180069.0004
single nucleotide variant	NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	RPE65	Pathogenic	1	68895518	68895518	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226519,UniProtKB:Q16518#VAR_037619,OMIM:180069.0008,ClinVar:982544
single nucleotide variant	NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	PRPH2	Pathogenic	6	42672284	42672284	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226285,OMIM:179605.0003