網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001034853.2(RPGR):c.155-1G>A	RPGR	Pathogenic	X	38182199	38182199	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)	RPGR	Pathogenic	X	38158220	38158220	G	A	criteria provided, multiple submitters, no conflicts	-
copy number loss	GRCh37/hg19 Xp11.4(chrX:38144822-38164037)	RPGR	Pathogenic	X	38144822	38164037	na	na	criteria provided, single submitter	-
Duplication	NM_001034853.2(RPGR):c.2899dup (p.Glu967fs)	RPGR	Pathogenic/Likely pathogenic	X	38145352	38145353	T	TC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)	RPGR	Pathogenic	X	38145807	38145810	CCTCT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)	RPGR	Pathogenic	X	38145746	38145747	TCC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001034853.2(RPGR):c.2641G>T (p.Glu881Ter)	RPGR	Likely pathogenic	X	38145611	38145611	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)	RPGR	Pathogenic	X	38182652	38182652	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003611.3(OFD1):c.655-2A>G	OFD1	Pathogenic	X	13764897	13764897	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_003611.3(OFD1):c.312+1G>T	OFD1	Likely pathogenic	X	13754798	13754798	G	T	criteria provided, single submitter	-