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.253T>C (p.Tyr85His)	BEST1	Pathogenic	11	61723195	61723195	T	C	criteria provided, multiple submitters, no conflicts	UniProtKB:O76090#VAR_000841,OMIM:607854.0002,ClinGen:CA227750
single nucleotide variant	NM_004183.4(BEST1):c.896G>A (p.Gly299Glu)	BEST1	Pathogenic	11	61726998	61726998	G	A	criteria provided, single submitter	ClinGen:CA227838,UniProtKB:O76090#VAR_000861,OMIM:607854.0003
single nucleotide variant	NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter)	BEST1	Pathogenic	11	61719365	61719365	C	G	criteria provided, single submitter	ClinGen:CA252409,OMIM:607854.0014
single nucleotide variant	NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)	BEST1	Pathogenic	11	61724901	61724901	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227804,UniProtKB:O76090#VAR_000854,OMIM:607854.0004
Indel	NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)	BEST1	Pathogenic	11	61723378	61723379	GC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA227780,OMIM:607854.0009
single nucleotide variant	NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	BEST1	Pathogenic/Likely pathogenic	11	61725631	61725631	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227815,UniProtKB:O76090#VAR_000858,OMIM:607854.0010
single nucleotide variant	NM_004183.4(BEST1):c.140G>A (p.Arg47His)	BEST1	Pathogenic/Likely pathogenic	11	61719418	61719418	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227724,UniProtKB:O76090#VAR_017372,OMIM:607854.0011
single nucleotide variant	NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	BEST1	Pathogenic	11	61724432	61724432	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115725,OMIM:607854.0015
single nucleotide variant	NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)	BEST1	Pathogenic	11	61719400	61719400	T	C	criteria provided, single submitter	ClinGen:CA115728,UniProtKB:O76090#VAR_017371,OMIM:607854.0018
single nucleotide variant	NM_004183.4(BEST1):c.256G>A (p.Val86Met)	BEST1	Pathogenic	11	61723198	61723198	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA115729,UniProtKB:O76090#VAR_058274,OMIM:607854.0019