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_000322.5(PRPH2):c.828+3A>T	PRPH2	Pathogenic	6	42672100	42672100	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226319
single nucleotide variant	NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)	PRPH2	Pathogenic	6	42666219	42666219	G	T	criteria provided, single submitter	ClinGen:CA226320
single nucleotide variant	NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)	PRPH2	Pathogenic/Likely pathogenic	6	42666170	42666170	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226324
Deletion	NM_000322.5(PRPH2):c.920del (p.Leu307fs)	PRPH2	Pathogenic	6	42666154	42666154	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226330,OMIM:179605.0019
Duplication	NM_000322.5(PRPH2):c.96dup (p.Ile33fs)	PRPH2	Pathogenic	6	42689976	42689977	T	TG	criteria provided, single submitter	ClinGen:CA226335
single nucleotide variant	NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter)	PRPH2	Pathogenic	6	42666083	42666083	G	A	criteria provided, single submitter	ClinGen:CA226336
Duplication	NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)	RPGR	Pathogenic	X	38158361	38158362	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA226342
single nucleotide variant	NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)	RPGR	Pathogenic/Likely pathogenic	X	38158334	38158334	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226344
single nucleotide variant	NM_001034853.2(RPGR):c.1245+3A>G	RPGR	Pathogenic/Likely pathogenic	X	38158206	38158206	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226348,OMIM:312610.0005
single nucleotide variant	NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg)	RPGR	Likely pathogenic	X	38182679	38182679	C	T	criteria provided, single submitter	ClinGen:CA226350,UniProtKB:Q92834#VAR_018058