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_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94528806	94528806	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226911,UniProtKB:P78363#VAR_008415,OMIM:601691.0023,ClinVar:7901
single nucleotide variant	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4	Pathogenic/Likely pathogenic	1	94496666	94496666	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129033,UniProtKB:P78363#VAR_008443,OMIM:601691.0026
Deletion	NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	ABCA4	Pathogenic	1	94512505	94512505	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA119138,OMIM:601691.0027
single nucleotide variant	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94471056	94471056	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119140,OMIM:601691.0029
single nucleotide variant	NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94474323	94474323	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA119145,UniProtKB:P78363#VAR_012602,OMIM:601691.0033
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