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_000440.3(PDE6A):c.2083C>T (p.Gln695Ter)	PDE6A	Pathogenic/Likely pathogenic	5	149263044	149263044	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA361692457
single nucleotide variant	NM_000440.3(PDE6A):c.1065+2T>A	PDE6A	Pathogenic/Likely pathogenic	5	149286873	149286873	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA361698740
single nucleotide variant	NM_003322.6(TULP1):c.1268T>C (p.Val423Ala)	TULP1	Pathogenic/Likely pathogenic	6	35471391	35471391	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA363779143
Deletion	NM_001164665.2(KIAA1549):c.3993del (p.Gln1332fs)	KIAA1549	Pathogenic/Likely pathogenic	7	138579127	138579127	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653787
Deletion	NM_006269.2(RP1):c.3690del (p.Gly1231fs)	RP1	Pathogenic/Likely pathogenic	8	55540131	55540131	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653790
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_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
copy number loss	GRCh37/hg19 1q41(chr1:216260061-216270555)x1	USH2A	Likely pathogenic	1	216260061	216270555	na	na	criteria provided, single submitter	-
Deletion	NM_201253.3(CRB1):c.1431del (p.Ser478fs)	CRB1	Pathogenic	1	197390387	197390387	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795576
single nucleotide variant	NM_201253.3(CRB1):c.4141C>A (p.Pro1381Thr)	CRB1	Pathogenic	1	197446929	197446929	C	A	criteria provided, single submitter	ClinGen:CA344035774