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
Duplication	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	PROM1	Pathogenic/Likely pathogenic	4	16008260	16008261	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA2866793
Deletion	NM_000539.3(RHO):c.359del (p.Gly120fs)	RHO	Pathogenic	3	129247933	129247933	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042497
single nucleotide variant	NM_006269.2(RP1):c.5639C>G (p.Pro1880Arg)	RP1	Likely pathogenic	8	55542081	55542081	C	G	criteria provided, single submitter	ClinGen:CA16042643
single nucleotide variant	NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter)	HGSNAT	Pathogenic/Likely pathogenic	8	43037377	43037377	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042729
Duplication	NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs)	IFT140	Pathogenic/Likely pathogenic	16	1573845	1573846	A	ACCGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA7813238
single nucleotide variant	NM_015629.4(PRPF31):c.527+1G>T	PRPF31	Pathogenic	19	54626940	54626940	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309324735
Duplication	NM_003611.3(OFD1):c.549dup (p.Ala184fs)	OFD1	Pathogenic	X	13764466	13764467	G	GT	criteria provided, single submitter	ClinGen:CA16043178
single nucleotide variant	NM_206933.4(USH2A):c.6722C>A (p.Pro2241His)	USH2A	Likely pathogenic	1	216166445	216166445	G	T	criteria provided, single submitter	ClinGen:CA16043365
single nucleotide variant	NM_000329.3(RPE65):c.1338+1G>A	RPE65	Pathogenic	1	68896964	68896964	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043370
Duplication	NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)	ABCA4	Pathogenic/Likely pathogenic	1	94485158	94485159	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043372