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_004183.4(BEST1):c.-37+1G>T	BEST1	Likely pathogenic	11	61717900	61717900	G	T	criteria provided, single submitter	ClinGen:CA645509454
single nucleotide variant	NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)	NR2E3	Pathogenic	15	72104171	72104171	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7640282
single nucleotide variant	NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)	NR2E3	Pathogenic/Likely pathogenic	15	72105748	72105748	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7640401
single nucleotide variant	NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)	IFT140	Pathogenic	16	1637210	1637210	C	T	criteria provided, single submitter	ClinGen:CA7814480
single nucleotide variant	NM_012106.4(ARL2BP):c.207+1G>A	ARL2BP	Pathogenic	16	57282556	57282556	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8074878
Duplication	NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)	CNGB1	Pathogenic/Likely pathogenic	16	57931400	57931401	G	GCCAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA8082660
single nucleotide variant	NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)	CNGB1	Pathogenic/Likely pathogenic	16	57949172	57949172	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8083082
single nucleotide variant	NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)	CNGB1	Pathogenic	16	57950065	57950065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA396063476
single nucleotide variant	NM_001297.5(CNGB1):c.413-1G>A	CNGB1	Pathogenic/Likely pathogenic	16	57996515	57996515	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8083831
single nucleotide variant	NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)	PRPF8	Pathogenic	17	1554176	1554176	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA397562024