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_000322.5(PRPH2):c.692C>A (p.Ser231Ter)	PRPH2	Likely pathogenic	6	42672239	42672239	G	T	criteria provided, single submitter	ClinGen:CA364135287
single nucleotide variant	NM_000283.4(PDE6B):c.1206C>G (p.Tyr402Ter)	PDE6B	Likely pathogenic	4	650761	650761	C	G	criteria provided, single submitter	ClinGen:CA355913337
single nucleotide variant	NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)	OFD1	Likely pathogenic	X	13769423	13769423	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412339741
single nucleotide variant	NM_003611.3(OFD1):c.655-8A>G	OFD1	Likely pathogenic	X	13764891	13764891	A	G	criteria provided, single submitter	ClinGen:CA658684277
single nucleotide variant	NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg)	IFT43	Likely pathogenic	14	76549813	76549813	T	C	criteria provided, single submitter	ClinGen:CA390474671,OMIM:614068.0003
single nucleotide variant	NM_205861.3(DHDDS):c.441-24A>G	DHDDS	Likely pathogenic	1	26774026	26774026	A	G	criteria provided, single submitter	ClinGen:CA705345,OMIM:608172.0005
Deletion	NM_001031710.3(KLHL7):c.1291del (p.Gly430_Leu431insTer)	KLHL7	Likely pathogenic	7	23207567	23207567	GC	G	criteria provided, single submitter	ClinGen:CA658657666
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
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_003611.3(OFD1):c.2261-6C>G	OFD1	Likely pathogenic	X	13779198	13779198	C	G	criteria provided, single submitter	ClinGen:CA658658929