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
Deletion	NM_001034853.2(RPGR):c.3081_3091del (p.Glu1028fs)	RPGR	Likely pathogenic	X	38145161	38145171	TCTCCTTCCTCC	T	criteria provided, single submitter	ClinGen:CA658684294
single nucleotide variant	NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)	OFD1	Likely pathogenic	X	13769423	13769423	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412339741
single nucleotide variant	NM_003611.3(OFD1):c.655-8A>G	OFD1	Likely pathogenic	X	13764891	13764891	A	G	criteria provided, single submitter	ClinGen:CA658684277
Duplication	NM_003611.3(OFD1):c.560dup (p.Tyr187Ter)	OFD1	Pathogenic	X	13764479	13764480	T	TA	criteria provided, single submitter	ClinGen:CA658658930
single nucleotide variant	NM_003611.3(OFD1):c.2261-6C>G	OFD1	Likely pathogenic	X	13779198	13779198	C	G	criteria provided, single submitter	ClinGen:CA658658929
Deletion	NC_000023.11:g.(?_13735052)_(13744539_?)del	OFD1	Pathogenic	X	13753171	13762658	na	na	criteria provided, single submitter	-
Duplication	NM_006915.3(RP2):c.243_246dup (p.Ile83fs)	RP2	Pathogenic	X	46713050	46713051	T	TTACC	criteria provided, single submitter	ClinGen:CA658658981
single nucleotide variant	NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter)	RPGR	Pathogenic/Likely pathogenic	X	38145605	38145605	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412730130
single nucleotide variant	NM_001034853.2(RPGR):c.2864G>A (p.Trp955Ter)	RPGR	Likely pathogenic	X	38145388	38145388	C	T	criteria provided, single submitter	ClinGen:CA412729596
single nucleotide variant	NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	RP2	Pathogenic	X	46713160	46713160	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413039367