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_000350.3(ABCA4):c.688T>A (p.Cys230Ser)	ABCA4	Pathogenic	1	94564430	94564430	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043373
single nucleotide variant	NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)	IMPDH1	Likely pathogenic	7	128038614	128038614	T	G	criteria provided, single submitter	ClinGen:CA16043423
single nucleotide variant	NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)	HGSNAT	Pathogenic/Likely pathogenic	8	43047556	43047556	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043726
single nucleotide variant	NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	RPE65	Pathogenic/Likely pathogenic	1	68912508	68912508	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA902588
single nucleotide variant	NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter)	USH2A	Pathogenic	1	215933128	215933128	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043841
single nucleotide variant	NM_206933.4(USH2A):c.9048C>A (p.Cys3016Ter)	USH2A	Likely pathogenic	1	216019173	216019173	G	T	criteria provided, single submitter	ClinGen:CA16043856
single nucleotide variant	NM_001034853.2(RPGR):c.2785G>T (p.Glu929Ter)	RPGR	Likely pathogenic	X	38145467	38145467	C	A	criteria provided, single submitter	ClinGen:CA16043886
single nucleotide variant	NM_138393.4(REEP6):c.404T>C (p.Leu135Pro)	REEP6	Likely pathogenic	19	1496339	1496339	T	C	criteria provided, single submitter	ClinGen:CA16044006,OMIM:609346.0001
Deletion	NM_138393.4(REEP6):c.448del (p.Ala150fs)	REEP6	Pathogenic	19	1496380	1496380	CG	C	criteria provided, single submitter	ClinGen:CA16044054,OMIM:609346.0002
Deletion	NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	CRB1	Pathogenic/Likely pathogenic	1	197411405	197411405	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603291