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.301C>A (p.Pro101Thr)	BEST1	Pathogenic	11	61723243	61723243	C	A	criteria provided, single submitter	ClinGen:CA227763,UniProtKB:O76090#VAR_017376
single nucleotide variant	NM_004183.4(BEST1):c.310G>C (p.Asp104His)	BEST1	Pathogenic	11	61723252	61723252	G	C	criteria provided, single submitter	ClinGen:CA227765,UniProtKB:O76090#VAR_017378
single nucleotide variant	NM_004183.4(BEST1):c.38G>A (p.Arg13His)	BEST1	Pathogenic/Likely pathogenic	11	61719316	61719316	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227774,UniProtKB:O76090#VAR_010469
single nucleotide variant	NM_004183.4(BEST1):c.399C>G (p.Asn133Lys)	BEST1	Pathogenic	11	61723341	61723341	C	G	criteria provided, single submitter	ClinGen:CA227775,UniProtKB:O76090#VAR_017379
single nucleotide variant	NM_004183.4(BEST1):c.421C>A (p.Arg141Ser)	BEST1	Pathogenic/Likely pathogenic	11	61723363	61723363	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227778
single nucleotide variant	NM_004183.4(BEST1):c.47C>T (p.Ser16Phe)	BEST1	Pathogenic	11	61719325	61719325	C	T	criteria provided, single submitter	ClinGen:CA227783,UniProtKB:O76090#VAR_010470
single nucleotide variant	NM_004183.4(BEST1):c.61C>G (p.Leu21Val)	BEST1	Likely pathogenic	11	61719339	61719339	C	G	criteria provided, single submitter	ClinGen:CA227786,UniProtKB:O76090#VAR_000834
single nucleotide variant	NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	BEST1	Pathogenic/Likely pathogenic	11	61724874	61724874	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227795,UniProtKB:O76090#VAR_000849
single nucleotide variant	NM_004183.4(BEST1):c.653G>A (p.Arg218His)	BEST1	Pathogenic/Likely pathogenic	11	61724875	61724875	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227796,UniProtKB:O76090#VAR_010481
single nucleotide variant	NM_004183.4(BEST1):c.663T>G (p.Cys221Trp)	BEST1	Pathogenic	11	61724885	61724885	T	G	criteria provided, single submitter	ClinGen:CA227799,UniProtKB:O76090#VAR_025735