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.1438T>C (p.Cys480Arg)	CRB1	Pathogenic/Likely pathogenic	1	197390396	197390396	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227993,UniProtKB:P82279#VAR_022949
single nucleotide variant	NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	CRB1	Pathogenic	1	197391000	197391000	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228000,UniProtKB:P82279#VAR_022954
single nucleotide variant	NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)	CRB1	Pathogenic/Likely pathogenic	1	197396677	197396677	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228002,UniProtKB:P82279#VAR_022956
Deletion	NM_201253.3(CRB1):c.2245_2247del (p.Ser749del)	CRB1	Likely pathogenic	1	197396698	197396700	CCAT	C	criteria provided, single submitter	ClinGen:CA228004
Deletion	NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs)	CRB1	Likely pathogenic	1	197397003	197397006	AGGCT	A	criteria provided, single submitter	ClinGen:CA228012
single nucleotide variant	NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)	CRB1	Pathogenic	1	197397010	197397010	T	C	criteria provided, single submitter	ClinGen:CA228013,UniProtKB:P82279#VAR_022964
single nucleotide variant	NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	CRB1	Pathogenic	1	197398590	197398590	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA203679
single nucleotide variant	NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)	CRB1	Pathogenic/Likely pathogenic	1	197404292	197404292	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228035,UniProtKB:P82279#VAR_022973
single nucleotide variant	NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)	CRB1	Likely pathogenic	1	197404313	197404313	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228036,UniProtKB:P82279#VAR_022975
single nucleotide variant	NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)	CRB1	Pathogenic	1	197404313	197404313	T	G	criteria provided, single submitter	ClinGen:CA228037,UniProtKB:P82279#VAR_022976