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_001142800.2(EYS):c.3443+1G>T	EYS	Pathogenic/Likely pathogenic	6	65523270	65523270	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275110
single nucleotide variant	NM_206933.4(USH2A):c.5167+1G>T	USH2A	Pathogenic/Likely pathogenic	1	216258039	216258039	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275134
Deletion	NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	EYS	Pathogenic/Likely pathogenic	6	65301404	65301410	CAGCTATA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275136
Duplication	NM_001297.5(CNGB1):c.2556dup (p.Lys853fs)	CNGB1	Pathogenic	16	57938715	57938716	T	TG	criteria provided, single submitter	ClinGen:CA275137
single nucleotide variant	NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter)	IFT140	Pathogenic	16	1569931	1569931	G	A	criteria provided, single submitter	ClinGen:CA202182
single nucleotide variant	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO	Pathogenic/Likely pathogenic	3	129251104	129251104	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275168,UniProtKB:P08100#VAR_004808
single nucleotide variant	NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter)	ABCA4	Pathogenic	1	94495111	94495111	G	A	criteria provided, single submitter	ClinGen:CA346872
single nucleotide variant	NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)	USH2A	Pathogenic/Likely pathogenic	1	216172285	216172285	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275221
single nucleotide variant	NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94476853	94476853	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA244968
single nucleotide variant	NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)	EYS	Pathogenic	6	66204814	66204814	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275249