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.665G>T (p.Gly222Val)	BEST1	Pathogenic/Likely pathogenic	11	61724887	61724887	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227800,UniProtKB:O76090#VAR_025736
single nucleotide variant	NM_004183.4(BEST1):c.671T>C (p.Leu224Pro)	BEST1	Pathogenic	11	61724893	61724893	T	C	criteria provided, single submitter	ClinGen:CA227803,UniProtKB:O76090#VAR_025737
single nucleotide variant	NM_004183.4(BEST1):c.693T>G (p.Ser231Arg)	BEST1	Likely pathogenic	11	61724915	61724915	T	G	criteria provided, single submitter	ClinGen:CA227805,UniProtKB:O76090#VAR_000855
single nucleotide variant	NM_004183.4(BEST1):c.722C>A (p.Thr241Asn)	BEST1	Pathogenic	11	61725625	61725625	C	A	criteria provided, single submitter	ClinGen:CA227813,UniProtKB:O76090#VAR_025738
single nucleotide variant	NM_004183.4(BEST1):c.727G>A (p.Ala243Thr)	BEST1	Pathogenic	11	61725630	61725630	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227814,UniProtKB:O76090#VAR_025739
single nucleotide variant	NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)	BEST1	Pathogenic/Likely pathogenic	11	61719351	61719351	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227817,UniProtKB:O76090#VAR_000837
single nucleotide variant	NM_004183.4(BEST1):c.74G>A (p.Arg25Gln)	BEST1	Pathogenic	11	61719352	61719352	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227818,UniProtKB:O76090#VAR_000836
single nucleotide variant	NM_004183.4(BEST1):c.85T>C (p.Tyr29His)	BEST1	Pathogenic	11	61719363	61719363	T	C	criteria provided, single submitter	ClinGen:CA227825,UniProtKB:O76090#VAR_017369
single nucleotide variant	NM_004183.4(BEST1):c.877C>A (p.Gln293Lys)	BEST1	Pathogenic	11	61726979	61726979	C	A	criteria provided, single submitter	ClinGen:CA227826,UniProtKB:O76090#VAR_010483
single nucleotide variant	NM_004183.4(BEST1):c.884T>C (p.Ile295Thr)	BEST1	Pathogenic	11	61726986	61726986	T	C	criteria provided, single submitter	ClinGen:CA227832,UniProtKB:O76090#VAR_025743