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_201253.3(CRB1):c.2425C>T (p.Gln809Ter)	CRB1	Pathogenic	1	197396880	197396880	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)	CRB1	Pathogenic	1	197404030	197404030	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)	CRB1	Pathogenic	1	197446956	197446956	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.15403del (p.Thr5135fs)	USH2A	Pathogenic	1	215802272	215802272	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter)	USH2A	Pathogenic	1	215848399	215848399	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.12794del (p.Gly4265fs)	USH2A	Pathogenic	1	215848459	215848459	AC	A	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.10318del (p.Ile3440fs)	USH2A	Pathogenic/Likely pathogenic	1	215960081	215960081	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)	USH2A	Pathogenic	1	215987141	215987141	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter)	USH2A	Pathogenic	1	216051197	216051197	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.5764C>T (p.Gln1922Ter)	USH2A	Pathogenic	1	216246451	216246451	G	A	criteria provided, single submitter	-