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_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)	SPATA7	Pathogenic	14	88903897	88903897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA264544769
single nucleotide variant	NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)	IFT140	Pathogenic/Likely pathogenic	16	1569983	1569983	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA276675316
single nucleotide variant	NM_014714.4(IFT140):c.2400-2A>G	IFT140	Pathogenic/Likely pathogenic	16	1576799	1576799	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA394228609
single nucleotide variant	NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter)	CNGB1	Pathogenic	16	57996944	57996944	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA396079763
single nucleotide variant	NM_003611.3(OFD1):c.655-8A>G	OFD1	Likely pathogenic	X	13764891	13764891	A	G	criteria provided, single submitter	ClinGen:CA658684277
single nucleotide variant	NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)	OFD1	Likely pathogenic	X	13769423	13769423	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412339741
single nucleotide variant	NM_000539.3(RHO):c.392T>C (p.Leu131Pro)	RHO	Pathogenic/Likely pathogenic	3	129249749	129249749	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA354497998
single nucleotide variant	NM_000283.4(PDE6B):c.1206C>G (p.Tyr402Ter)	PDE6B	Likely pathogenic	4	650761	650761	C	G	criteria provided, single submitter	ClinGen:CA355913337
single nucleotide variant	NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)	PRPH2	Pathogenic/Likely pathogenic	6	42666126	42666126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA364132977
single nucleotide variant	NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter)	PRPH2	Likely pathogenic	6	42672239	42672239	G	T	criteria provided, single submitter	ClinGen:CA364135287