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_006915.3(RP2):c.2T>C (p.Met1Thr)	RP2	Pathogenic	X	46696537	46696537	T	C	criteria provided, single submitter	ClinGen:CA236346
Deletion	NM_006915.3(RP2):c.352del (p.Arg118fs)	RP2	Pathogenic	X	46713160	46713160	TC	T	criteria provided, single submitter	ClinGen:CA273364
Deletion	NM_003611.3(OFD1):c.1332del (p.Lys444fs)	OFD1	Pathogenic	X	13774805	13774805	GA	G	criteria provided, single submitter	ClinGen:CA233303
single nucleotide variant	NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)	RPGR	Pathogenic/Likely pathogenic	X	38160579	38160579	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226468
Deletion	NM_001034853.2(RPGR):c.101del (p.Asn34fs)	RPGR	Pathogenic	X	38182705	38182705	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226467
single nucleotide variant	NM_001034853.2(RPGR):c.934+1G>C	RPGR	Pathogenic	X	38163887	38163887	C	G	criteria provided, single submitter	ClinGen:CA226464
single nucleotide variant	NM_001034853.2(RPGR):c.934+1G>A	RPGR	Pathogenic	X	38163887	38163887	C	T	criteria provided, single submitter	ClinGen:CA226463
single nucleotide variant	NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)	RPGR	Likely pathogenic	X	38163917	38163917	C	T	criteria provided, single submitter	ClinGen:CA226459,UniProtKB:Q92834#VAR_018064
Deletion	NM_001034853.2(RPGR):c.869del (p.Glu290fs)	RPGR	Pathogenic	X	38163953	38163953	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226454
Deletion	NM_001034853.2(RPGR):c.837del (p.Leu280fs)	RPGR	Pathogenic	X	38163985	38163985	GA	G	criteria provided, single submitter	ClinGen:CA226451