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_004183.4(BEST1):c.905A>T (p.Asp302Val)	BEST1	Likely pathogenic	11	61727007	61727007	A	T	criteria provided, single submitter	ClinGen:CA227848,UniProtKB:O76090#VAR_025748
single nucleotide variant	NM_004183.4(BEST1):c.909T>A (p.Asp303Glu)	BEST1	Pathogenic	11	61727011	61727011	T	A	criteria provided, single submitter	ClinGen:CA227849,UniProtKB:O76090#VAR_025749
single nucleotide variant	NM_004183.4(BEST1):c.914T>C (p.Phe305Ser)	BEST1	Pathogenic	11	61727016	61727016	T	C	criteria provided, single submitter	ClinGen:CA227850,UniProtKB:O76090#VAR_000865
single nucleotide variant	NM_004183.4(BEST1):c.917A>G (p.Glu306Gly)	BEST1	Pathogenic	11	61727019	61727019	A	G	criteria provided, single submitter	ClinGen:CA227851,UniProtKB:O76090#VAR_025751
single nucleotide variant	NM_004183.4(BEST1):c.919A>G (p.Thr307Ala)	BEST1	Likely pathogenic	11	61727021	61727021	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227853,UniProtKB:O76090#VAR_025752
single nucleotide variant	NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)	BEST1	Pathogenic/Likely pathogenic	11	61727022	61727022	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227854,UniProtKB:O76090#VAR_010487
single nucleotide variant	NM_004183.4(BEST1):c.929T>C (p.Ile310Thr)	BEST1	Pathogenic	11	61727031	61727031	T	C	criteria provided, single submitter	ClinGen:CA227856,UniProtKB:O76090#VAR_000866
single nucleotide variant	NM_004183.4(BEST1):c.934G>A (p.Asp312Asn)	BEST1	Pathogenic	11	61727036	61727036	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227859,UniProtKB:O76090#VAR_000868
Deletion	NM_201253.3(CRB1):c.112del (p.Ser38fs)	CRB1	Pathogenic	1	197297592	197297592	AT	A	criteria provided, single submitter	ClinGen:CA227986
single nucleotide variant	NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	CRB1	Pathogenic/Likely pathogenic	1	197326120	197326120	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227987,UniProtKB:P82279#VAR_022946