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_014714.4(IFT140):c.1010-1G>A	IFT140	Pathogenic/Likely pathogenic	16	1636277	1636277	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7814454
single nucleotide variant	NM_003611.3(OFD1):c.72C>A (p.Tyr24Ter)	OFD1	Pathogenic	X	13753426	13753426	C	A	criteria provided, single submitter	ClinGen:CA10603408
Deletion	NM_003611.3(OFD1):c.2656del (p.Gln886fs)	OFD1	Pathogenic	X	13785302	13785302	GC	G	criteria provided, single submitter	ClinGen:CA10603409
Deletion	NM_001297.5(CNGB1):c.3150del (p.Phe1051fs)	CNGB1	Pathogenic	16	57931393	57931393	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8082655
Deletion	NM_015629.4(PRPF31):c.950del (p.Gly317fs)	PRPF31	Pathogenic/Likely pathogenic	19	54631450	54631450	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309329246
Duplication	NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)	RPGR	Pathogenic	X	38144934	38144935	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603725
Deletion	NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	EYS	Pathogenic	6	64709008	64709008	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3876878
Deletion	NM_000350.3(ABCA4):c.6184_6187del (p.Val2062fs)	ABCA4	Pathogenic	1	94467509	94467512	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604078
Deletion	NM_000350.3(ABCA4):c.850_857del (p.Ile284fs)	ABCA4	Pathogenic	1	94548909	94548916	CTCTTGAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604079
Duplication	NM_016247.4(IMPG2):c.1818dup (p.Gln607fs)	IMPG2	Pathogenic	3	100963356	100963357	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604419