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.255del (p.Lys85fs)	RPGR	Pathogenic/Likely pathogenic	X	38180335	38180335	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003611.3(OFD1):c.748G>T (p.Glu250Ter)	OFD1	Pathogenic	X	13764992	13764992	G	T	criteria provided, single submitter	ClinGen:CA412338029
Deletion	NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs)	OFD1	Pathogenic	X	13778702	13778705	GAAGA	G	criteria provided, single submitter	ClinGen:CA658799583
Deletion	NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs)	RPGR	Pathogenic	X	38160501	38160505	CAATTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799694
Deletion	NM_003611.3(OFD1):c.2076del (p.Phe692fs)	OFD1	Pathogenic	X	13778651	13778651	AT	A	criteria provided, single submitter	ClinGen:CA658799582
Deletion	NM_003611.3(OFD1):c.363del (p.Ser122fs)	OFD1	Pathogenic	X	13757014	13757014	TC	T	criteria provided, single submitter	ClinGen:CA658799581
Duplication	NM_006915.3(RP2):c.76_77dup (p.Gln26fs)	RP2	Pathogenic	X	46696610	46696611	G	GCA	criteria provided, single submitter	ClinGen:CA658799726
Deletion	NM_003611.3(OFD1):c.1840del (p.Ala614fs)	OFD1	Pathogenic	X	13778419	13778419	TG	T	criteria provided, single submitter	ClinGen:CA658794117
single nucleotide variant	NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)	RPGR	Pathogenic/Likely pathogenic	X	38145836	38145836	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412730692
single nucleotide variant	NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)	RPGR	Pathogenic/Likely pathogenic	X	38145647	38145647	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412730244