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.715G>A (p.Val239Met)	BEST1	Likely pathogenic	11	61725618	61725618	G	A	criteria provided, single submitter	ClinGen:CA115730,UniProtKB:O76090#VAR_058276,OMIM:607854.0020
single nucleotide variant	NM_004183.4(BEST1):c.614T>C (p.Ile205Thr)	BEST1	Pathogenic	11	61724448	61724448	T	C	criteria provided, single submitter	ClinGen:CA252411,UniProtKB:O76090#VAR_063170,OMIM:607854.0022
single nucleotide variant	NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)	BEST1	Pathogenic/Likely pathogenic	11	61724902	61724902	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA115733,UniProtKB:O76090#VAR_000853,OMIM:607854.0024
single nucleotide variant	NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser)	PRPF3	Pathogenic	1	150316688	150316688	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252737,UniProtKB:O43395#VAR_046735,OMIM:607301.0002
single nucleotide variant	NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg)	PRPF8	Pathogenic	17	1554178	1554178	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252740,UniProtKB:Q6P2Q9#VAR_022629,OMIM:607300.0001
single nucleotide variant	NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)	PRPF8	Pathogenic/Likely pathogenic	17	1554178	1554178	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252741,UniProtKB:Q6P2Q9#VAR_022628,OMIM:607300.0002
single nucleotide variant	NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys)	PRPF8	Pathogenic	17	1554175	1554175	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252742,UniProtKB:Q6P2Q9#VAR_022631,OMIM:607300.0003
single nucleotide variant	NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr)	PRPF8	Likely pathogenic	17	1554203	1554203	G	T	criteria provided, single submitter	ClinGen:CA252743,UniProtKB:Q6P2Q9#VAR_022626,OMIM:607300.0004
single nucleotide variant	NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu)	PRPF8	Pathogenic/Likely pathogenic	17	1554192	1554192	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252744,UniProtKB:Q6P2Q9#VAR_022627,OMIM:607300.0005
single nucleotide variant	NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter)	IMPG2	Pathogenic	3	100962459	100962459	G	A	criteria provided, single submitter	ClinGen:CA252813,OMIM:607056.0003