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.634A>G (p.Ser212Gly)	PRPH2	Pathogenic/Likely pathogenic	6	42672297	42672297	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226273
single nucleotide variant	NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)	PRPH2	Pathogenic/Likely pathogenic	6	42672296	42672296	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226275
single nucleotide variant	NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)	PRPH2	Pathogenic	6	42672294	42672294	A	G	criteria provided, single submitter	ClinGen:CA174960,OMIM:179605.0023
single nucleotide variant	NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	PRPH2	Pathogenic/Likely pathogenic	6	42672293	42672293	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226277
single nucleotide variant	NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	PRPH2	Pathogenic/Likely pathogenic	6	42672285	42672285	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226283
single nucleotide variant	NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)	PRPH2	Pathogenic/Likely pathogenic	6	42672272	42672272	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226293
single nucleotide variant	NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	PRPH2	Pathogenic	6	42672216	42672216	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226300
single nucleotide variant	NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	PRPH2	Likely pathogenic	6	42672195	42672195	A	G	criteria provided, single submitter	ClinGen:CA226307
single nucleotide variant	NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)	PRPH2	Pathogenic/Likely pathogenic	6	42672134	42672134	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226312
single nucleotide variant	NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)	PRPH2	Pathogenic/Likely pathogenic	6	42689993	42689993	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226316