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_000440.3(PDE6A):c.2183G>A (p.Trp728Ter)	PDE6A	Pathogenic	5	149247674	149247674	C	T	criteria provided, single submitter	-
Deletion	NM_001142800.2(EYS):c.8314del (p.Thr2772fs)	EYS	Pathogenic	6	64431613	64431613	GT	G	criteria provided, single submitter	-
Indel	NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)	USH2A	Pathogenic/Likely pathogenic	1	216260140	216260146	ACCATTC	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_201548.5(CERKL):c.239-1G>A	CERKL	Pathogenic/Likely pathogenic	2	182468807	182468807	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_006269.2(RP1):c.3734del (p.Cys1245fs)	RP1	Pathogenic	8	55540176	55540176	TG	T	criteria provided, single submitter	-
Duplication	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	RPE65	Pathogenic	1	68903930	68903931	A	AT	criteria provided, multiple submitters, no conflicts	ClinVar:982544
single nucleotide variant	NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter)	CNGA1	Likely pathogenic	4	47938882	47938882	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_006017.3(PROM1):c.1077+1G>C	PROM1	Likely pathogenic	4	16017788	16017788	C	G	criteria provided, single submitter	-
Deletion	NM_001142800.2(EYS):c.8830del (p.Val2944fs)	EYS	Pathogenic/Likely pathogenic	6	64431097	64431097	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	HK1	Likely pathogenic	10	71139838	71139838	A	G	criteria provided, multiple submitters, no conflicts	OMIM:142600.0007