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_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)	RPGR	Pathogenic	X	38145602	38145602	C	A	criteria provided, single submitter	ClinGen:CA254931,OMIM:312610.0012
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
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
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
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.3081_3091del (p.Glu1028fs)	RPGR	Likely pathogenic	X	38145161	38145171	TCTCCTTCCTCC	T	criteria provided, single submitter	ClinGen:CA658684294
Deletion	NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)	RPGR	Pathogenic	X	38145155	38145156	TCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120803,OMIM:312610.0014
Duplication	NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)	RPGR	Pathogenic	X	38144934	38144935	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603725
copy number loss	GRCh37/hg19 Xp11.4(chrX:38144822-38164037)	RPGR	Pathogenic	X	38144822	38164037	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003322.6(TULP1):c.99+1G>A	TULP1	Pathogenic/Likely pathogenic	6	35480415	35480415	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227719,OMIM:602280.0004