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_000539.3(RHO):c.509C>G (p.Pro170Arg)	RHO	Pathogenic/Likely pathogenic	3	129249866	129249866	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA354498718
single nucleotide variant	NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)	ARL6	Pathogenic	3	97503825	97503825	T	C	criteria provided, single submitter	ClinGen:CA2505920
single nucleotide variant	NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter)	PROM1	Pathogenic	4	15995667	15995667	G	T	criteria provided, single submitter	ClinGen:CA2866667
single nucleotide variant	NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)	PROM1	Pathogenic	4	16025003	16025003	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2866972
single nucleotide variant	NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)	PROM1	Pathogenic	4	16035000	16035000	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2867073
single nucleotide variant	NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter)	CNGA1	Pathogenic	4	47938833	47938833	G	A	criteria provided, single submitter	ClinGen:CA2911032
Duplication	NM_000283.4(PDE6B):c.1485dup (p.Pro496fs)	PDE6B	Pathogenic	4	654270	654271	A	AG	criteria provided, single submitter	ClinGen:CA645509144
single nucleotide variant	NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	PDE6A	Pathogenic	5	149264112	149264112	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3504453
single nucleotide variant	NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)	PDE6A	Pathogenic/Likely pathogenic	5	149274844	149274844	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3504607
single nucleotide variant	NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	PDE6A	Pathogenic/Likely pathogenic	5	149310680	149310680	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3504948