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_000329.3(RPE65):c.1102T>C (p.Tyr368His)	RPE65	Pathogenic	1	68903896	68903896	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226484,UniProtKB:Q16518#VAR_017139,OMIM:180069.0009
single nucleotide variant	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	RPE65	Pathogenic	1	68904716	68904716	T	A	criteria provided, multiple submitters, no conflicts	OMIM:180069.0011,ClinGen:CA226589
single nucleotide variant	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	RPE65	Pathogenic/Likely pathogenic	1	68897011	68897011	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226500,UniProtKB:Q16518#VAR_018151,OMIM:180069.0012
single nucleotide variant	NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	ABCA4	Pathogenic	1	94506923	94506923	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227113,UniProtKB:P78363#VAR_008438,OMIM:601691.0037
single nucleotide variant	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS	Pathogenic	1	26764719	26764719	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259894,UniProtKB:Q86SQ9#VAR_065356,OMIM:608172.0001
single nucleotide variant	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Pathogenic/Likely pathogenic	1	216064540	216064540	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA259896,OMIM:608400.0013
Duplication	NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)	USH2A	Pathogenic	1	216019330	216019331	C	CA	criteria provided, single submitter	ClinGen:CA259898,OMIM:608400.0015
single nucleotide variant	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1	Pathogenic	1	197403836	197403836	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228022,UniProtKB:P82279#VAR_011645,OMIM:604210.0013
Deletion	NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)	USH2A	Pathogenic	1	215960208	215960209	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA262053
single nucleotide variant	NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	USH2A	Pathogenic	1	216498754	216498754	T	G	reviewed by expert panel	ClinGen:CA262054,UniProtKB:O75445#VAR_025766