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_003611.3(OFD1):c.1654+5G>C	OFD1	Likely pathogenic	X	13776572	13776572	G	C	criteria provided, single submitter	ClinGen:CA645372673
Duplication	NM_001034853.2(RPGR):c.1187dup (p.Leu396fs)	RPGR	Pathogenic	X	38158266	38158267	T	TA	criteria provided, single submitter	ClinGen:CA645372676
Deletion	NM_003611.3(OFD1):c.1221+1_1221+2del	OFD1	Pathogenic	X	13773362	13773363	GGT	G	criteria provided, single submitter	ClinGen:CA645369747
single nucleotide variant	NM_006915.3(RP2):c.102G>A (p.Lys34=)	RP2	Likely pathogenic	X	46696637	46696637	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA516252066
Deletion	NM_006915.3(RP2):c.392del (p.Cys131fs)	RP2	Likely pathogenic	X	46713200	46713200	TG	T	criteria provided, single submitter	ClinGen:CA16621891
Deletion	NM_001034853.2(RPGR):c.2346del (p.Lys783fs)	RPGR	Pathogenic/Likely pathogenic	X	38145906	38145906	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621887
Deletion	NM_001034853.2(RPGR):c.2887del (p.Glu963fs)	RPGR	Pathogenic/Likely pathogenic	X	38145365	38145365	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621886
single nucleotide variant	NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)	OFD1	Pathogenic	X	13785371	13785371	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616638
single nucleotide variant	NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)	RPGR	Pathogenic	X	38156585	38156585	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616540
single nucleotide variant	NM_001034853.2(RPGR):c.2785G>T (p.Glu929Ter)	RPGR	Likely pathogenic	X	38145467	38145467	C	A	criteria provided, single submitter	ClinGen:CA16043886