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.2234C>T (p.Thr745Met)	CRB1	Pathogenic/Likely pathogenic	1	197396689	197396689	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228003,UniProtKB:P82279#VAR_011643,OMIM:604210.0005
single nucleotide variant	NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)	CRB1	Likely pathogenic	1	197404292	197404292	T	G	criteria provided, single submitter	ClinGen:CA117707,UniProtKB:P82279#VAR_011648,OMIM:604210.0006
single nucleotide variant	NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	CRB1	Pathogenic	1	197396856	197396856	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA203531,OMIM:604210.0008
single nucleotide variant	NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	CRB1	Pathogenic	1	197404300	197404300	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117711,UniProtKB:P82279#VAR_022974,OMIM:604210.0011
Deletion	NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)	CRB1	Pathogenic	1	197446905	197446914	AAGGGCAACTC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212839,OMIM:604210.0012
single nucleotide variant	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4	Pathogenic/Likely pathogenic	1	94471065	94471065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119129,UniProtKB:P78363#VAR_008478,OMIM:601691.0004
single nucleotide variant	NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	ABCA4	Pathogenic/Likely pathogenic	1	94508976	94508976	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227082,UniProtKB:P78363#VAR_008432,OMIM:601691.0012
single nucleotide variant	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4	Pathogenic/Likely pathogenic	1	94508969	94508969	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119135,UniProtKB:P78363#VAR_008433,OMIM:601691.0016,OMIM:601691.0023,ClinVar:7901
single nucleotide variant	NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94564484	94564484	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA203216,UniProtKB:P78363#VAR_008406,OMIM:601691.0020
single nucleotide variant	NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	ABCA4	Pathogenic/Likely pathogenic	1	94586550	94586550	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227296,UniProtKB:P78363#VAR_008398,OMIM:601691.0021,ClinVar:1048166