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
Duplication	NM_001354768.3(NRL):c.223dup (p.Leu75fs)	NRL	Pathogenic	14	24551834	24551835	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA7122905,OMIM:162080.0002
single nucleotide variant	NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn)	IMPDH1	Pathogenic	7	128038611	128038611	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257369,OMIM:146690.0001
single nucleotide variant	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1	Pathogenic/Likely pathogenic	4	47939552	47939552	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:424770,ClinGen:CA126990,UniProtKB:P29973#VAR_009297,OMIM:123825.0003
Duplication	NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	CDHR1	Pathogenic	10	85960441	85960442	C	CA	criteria provided, multiple submitters, no conflicts	OMIM:609502.0001
single nucleotide variant	NM_001242957.3(MAK):c.497G>A (p.Arg166His)	MAK	Pathogenic	6	10804119	10804119	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259651,UniProtKB:P20794#VAR_066991,OMIM:154235.0005
single nucleotide variant	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	RPE65	Pathogenic	1	68903896	68903896	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226484,UniProtKB:Q16518#VAR_017139,OMIM:180069.0009
single nucleotide variant	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	RPE65	Pathogenic	1	68904716	68904716	T	A	criteria provided, multiple submitters, no conflicts	OMIM:180069.0011,ClinGen:CA226589
single nucleotide variant	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	RPE65	Pathogenic/Likely pathogenic	1	68897011	68897011	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226500,UniProtKB:Q16518#VAR_018151,OMIM:180069.0012
single nucleotide variant	NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)	PDE6A	Pathogenic	5	149263074	149263074	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259675,OMIM:180071.0004
single nucleotide variant	NM_000539.3(RHO):c.482G>A (p.Trp161Ter)	RHO	Pathogenic	3	129249839	129249839	G	A	criteria provided, single submitter	ClinGen:CA358695,OMIM:180380.0045