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.886A>C (p.Asn296His)	BEST1	Pathogenic	11	61726988	61726988	A	C	criteria provided, single submitter	ClinGen:CA227833,UniProtKB:O76090#VAR_025744
single nucleotide variant	NM_004183.4(BEST1):c.887A>G (p.Asn296Ser)	BEST1	Pathogenic	11	61726989	61726989	A	G	criteria provided, single submitter	ClinGen:CA227834,UniProtKB:O76090#VAR_010484
single nucleotide variant	NM_004183.4(BEST1):c.889C>G (p.Pro297Ala)	BEST1	Pathogenic	11	61726991	61726991	C	G	criteria provided, single submitter	ClinGen:CA227835,UniProtKB:O76090#VAR_000860
single nucleotide variant	NM_004183.4(BEST1):c.893T>C (p.Phe298Ser)	BEST1	Pathogenic	11	61726995	61726995	T	C	criteria provided, single submitter	UniProtKB:O76090#VAR_025745,ClinGen:CA227837
single nucleotide variant	NM_004183.4(BEST1):c.898G>A (p.Glu300Lys)	BEST1	Pathogenic	11	61727000	61727000	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227839,UniProtKB:O76090#VAR_000862
single nucleotide variant	NM_004183.4(BEST1):c.900G>C (p.Glu300Asp)	BEST1	Pathogenic	11	61727002	61727002	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227841,UniProtKB:O76090#VAR_010486
single nucleotide variant	NM_004183.4(BEST1):c.901G>A (p.Asp301Asn)	BEST1	Pathogenic	11	61727003	61727003	G	A	criteria provided, single submitter	ClinGen:CA227842,UniProtKB:O76090#VAR_000864
single nucleotide variant	NM_004183.4(BEST1):c.903T>G (p.Asp301Glu)	BEST1	Pathogenic	11	61727005	61727005	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227845,UniProtKB:O76090#VAR_000863
single nucleotide variant	NM_004183.4(BEST1):c.904G>C (p.Asp302His)	BEST1	Pathogenic	11	61727006	61727006	G	C	criteria provided, single submitter	ClinGen:CA227846,UniProtKB:O76090#VAR_025747
single nucleotide variant	NM_004183.4(BEST1):c.905A>G (p.Asp302Gly)	BEST1	Likely pathogenic	11	61727007	61727007	A	G	criteria provided, single submitter	ClinGen:CA227847,UniProtKB:O76090#VAR_025746