網膜色素変性症

小児・神経疾患

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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_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.1604T>A (p.Ile535Asn)	PDE6B	Pathogenic/Likely pathogenic	4	654392	654392	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270010,UniProtKB:P35913#VAR_009291
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_000283.4(PDE6B):c.1670A>G (p.His557Arg)	PDE6B	Likely pathogenic	4	655978	655978	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)	PDE6B	Pathogenic/Likely pathogenic	4	655986	655986	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277821,OMIM:180072.0008
single nucleotide variant	NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)	PDE6B	Pathogenic/Likely pathogenic	4	656007	656007	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000283.4(PDE6B):c.1832+1G>T	PDE6B	Pathogenic	4	656408	656408	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355917651
Deletion	NM_000283.4(PDE6B):c.1860del (p.His620fs)	PDE6B	Pathogenic	4	656916	656916	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2794733
Indel	NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)	PDE6B	Pathogenic/Likely pathogenic	4	657561	657607	CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA	TCTGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA090985
single nucleotide variant	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Pathogenic	4	658734	658734	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273358