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.664T>C (p.Cys222Arg)	PRPH2	Pathogenic	6	42672267	42672267	A	G	criteria provided, single submitter	ClinGen:CA364135451
Deletion	NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)	PRPH2	Pathogenic	6	42689807	42689814	GGCTGGGTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509484
Deletion	NM_001142800.2(EYS):c.5928-3_5928-1del	EYS	Pathogenic	6	65098734	65098736	CCTG	C	criteria provided, single submitter	ClinGen:CA645509483
single nucleotide variant	NM_001142800.2(EYS):c.5928-2A>G	EYS	Pathogenic	6	65098735	65098735	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA140315879
Indel	NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)	EYS	Likely pathogenic	6	65300418	65300443	ACTGAGCCTGTCAATGGTGGCAGATT	TA	criteria provided, single submitter	ClinGen:CA645509486
single nucleotide variant	NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)	EYS	Pathogenic/Likely pathogenic	6	65301715	65301715	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA140340976
single nucleotide variant	NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)	EYS	Pathogenic	6	65303112	65303112	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA364784754
single nucleotide variant	NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)	EYS	Pathogenic	6	65596606	65596606	A	T	criteria provided, single submitter	ClinGen:CA364788629
single nucleotide variant	NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)	EYS	Pathogenic/Likely pathogenic	6	65622398	65622398	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA140380268
Deletion	NM_001142800.2(EYS):c.1211del (p.Asn404fs)	EYS	Pathogenic	6	66094367	66094367	GT	G	criteria provided, single submitter	ClinGen:CA645509487