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_006445.4(PRPF8):c.3890C>A (p.Thr1297Lys)	PRPF8	Likely pathogenic	17	1565332	1565332	G	T	criteria provided, single submitter	ClinGen:CA397579112
Deletion	NM_015629.4(PRPF31):c.758_767del (p.Gly253fs)	PRPF31	Pathogenic	19	54627936	54627945	TCGGGGCCCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658861
Duplication	NM_006915.3(RP2):c.243_246dup (p.Ile83fs)	RP2	Pathogenic	X	46713050	46713051	T	TTACC	criteria provided, single submitter	ClinGen:CA658658981
single nucleotide variant	NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	RPE65	Pathogenic/Likely pathogenic	1	68910290	68910290	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340747862
Deletion	NC_000016.9:g.(?_56518653)_(56545216_?)del	BBS2	Pathogenic	16	56518653	56545216	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_13735052)_(13744539_?)del	OFD1	Pathogenic	X	13753171	13762658	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003611.3(OFD1):c.2261-6C>G	OFD1	Likely pathogenic	X	13779198	13779198	C	G	criteria provided, single submitter	ClinGen:CA658658929
Duplication	NM_003611.3(OFD1):c.560dup (p.Tyr187Ter)	OFD1	Pathogenic	X	13764479	13764480	T	TA	criteria provided, single submitter	ClinGen:CA658658930
single nucleotide variant	NM_001031710.3(KLHL7):c.618+1G>A	KLHL7	Likely pathogenic	7	23180564	23180564	G	A	criteria provided, single submitter	ClinGen:CA366976530,OMIM:611119.0008
single nucleotide variant	NM_001031710.3(KLHL7):c.1196T>A (p.Leu399Ter)	KLHL7	Likely pathogenic	7	23207473	23207473	T	A	criteria provided, single submitter	ClinGen:CA366981686