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.244C>G (p.Leu82Val)	BEST1	Pathogenic	11	61722670	61722670	C	G	criteria provided, single submitter	ClinGen:CA227746,UniProtKB:O76090#VAR_010473
single nucleotide variant	NM_004183.4(BEST1):c.272C>T (p.Thr91Ile)	BEST1	Pathogenic	11	61723214	61723214	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:O76090#VAR_017375,ClinGen:CA227753
single nucleotide variant	NM_004183.4(BEST1):c.274C>A (p.Arg92Ser)	BEST1	Likely pathogenic	11	61723216	61723216	C	A	criteria provided, single submitter	ClinGen:CA227754,UniProtKB:O76090#VAR_000842
single nucleotide variant	NM_004183.4(BEST1):c.274C>T (p.Arg92Cys)	BEST1	Pathogenic	11	61723216	61723216	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227755,UniProtKB:O76090#VAR_010474
single nucleotide variant	NM_004183.4(BEST1):c.275G>A (p.Arg92His)	BEST1	Pathogenic	11	61723217	61723217	G	A	criteria provided, single submitter	ClinGen:CA227756,UniProtKB:O76090#VAR_010475
single nucleotide variant	NM_004183.4(BEST1):c.288G>C (p.Gln96His)	BEST1	Pathogenic	11	61723230	61723230	G	C	criteria provided, single submitter	ClinGen:CA227758,UniProtKB:O76090#VAR_010476
single nucleotide variant	NM_004183.4(BEST1):c.28G>A (p.Ala10Thr)	BEST1	Pathogenic	11	61719306	61719306	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227759,UniProtKB:O76090#VAR_000833
single nucleotide variant	NM_004183.4(BEST1):c.297C>A (p.Asn99Lys)	BEST1	Pathogenic	11	61723239	61723239	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227760,UniProtKB:O76090#VAR_000844
single nucleotide variant	NM_004183.4(BEST1):c.299T>G (p.Leu100Arg)	BEST1	Likely pathogenic	11	61723241	61723241	T	G	criteria provided, single submitter	ClinGen:CA227761,UniProtKB:O76090#VAR_000845
single nucleotide variant	NM_004183.4(BEST1):c.29C>T (p.Ala10Val)	BEST1	Pathogenic	11	61719307	61719307	C	T	criteria provided, single submitter	ClinGen:CA227762,UniProtKB:O76090#VAR_010468