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.554T>C (p.Leu185Pro)	PRPH2	Pathogenic/Likely pathogenic	6	42689519	42689519	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA122928,OMIM:179605.0004
single nucleotide variant	NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	PRPH2	Pathogenic	6	42689558	42689558	C	T	criteria provided, multiple submitters, no conflicts	OMIM:179605.0006,ClinGen:CA122930
single nucleotide variant	NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)	PRPH2	Pathogenic	6	42689573	42689573	C	T	criteria provided, single submitter	ClinGen:CA122934,OMIM:179605.0009
single nucleotide variant	NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	PRPH2	Pathogenic/Likely pathogenic	6	42689559	42689559	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA122936,OMIM:179605.0007
single nucleotide variant	NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)	PRPH2	Pathogenic/Likely pathogenic	6	42672302	42672302	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA122938,OMIM:179605.0012
single nucleotide variant	NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)	PRPH2	Pathogenic	6	42690071	42690071	A	G	criteria provided, single submitter	ClinGen:CA122940,OMIM:179605.0014
Deletion	NM_000322.5(PRPH2):c.113del (p.Gly38fs)	PRPH2	Pathogenic	6	42689960	42689960	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA212948,OMIM:179605.0016
single nucleotide variant	NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	PRPH2	Pathogenic/Likely pathogenic	6	42689937	42689937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226209,OMIM:179605.0018
single nucleotide variant	NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)	PRPH2	Pathogenic	6	42672347	42672347	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA122944,OMIM:179605.0021
single nucleotide variant	NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	PRPH2	Pathogenic/Likely pathogenic	6	42689649	42689649	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA122946,OMIM:179605.0022