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_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)	IFT140	Pathogenic	16	1570178	1570178	C	T	criteria provided, single submitter	ClinGen:CA277670
single nucleotide variant	NM_015662.3(IFT172):c.1525-1G>A	IFT172	Pathogenic/Likely pathogenic	2	27693963	27693963	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199772,OMIM:607386.0014
single nucleotide variant	NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)	ABCA4	Pathogenic	1	94544249	94544249	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA239111
single nucleotide variant	NM_015629.4(PRPF31):c.1073+1G>A	PRPF31	Pathogenic/Likely pathogenic	19	54631576	54631576	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274941
Duplication	NM_031885.5(BBS2):c.1099dup (p.Leu367fs)	BBS2	Pathogenic	16	56535390	56535391	A	AG	criteria provided, single submitter	ClinGen:CA274944
single nucleotide variant	NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)	EYS	Pathogenic	6	65767589	65767589	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274990
single nucleotide variant	NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)	EYS	Pathogenic/Likely pathogenic	6	65707540	65707540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275001
single nucleotide variant	NM_000440.3(PDE6A):c.1926+1G>A	PDE6A	Pathogenic	5	149264342	149264342	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275023
single nucleotide variant	NM_001354768.3(NRL):c.151C>T (p.Pro51Ser)	NRL	Pathogenic/Likely pathogenic	14	24551907	24551907	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275077
Deletion	NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	PDE6A	Pathogenic/Likely pathogenic	5	149245756	149245759	AAGTC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275094