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_006915.3(RP2):c.352C>T (p.Arg118Cys)	RP2	Pathogenic	X	46713160	46713160	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413039367
single nucleotide variant	NM_004183.4(BEST1):c.535A>G (p.Asn179Asp)	BEST1	Likely pathogenic	11	61724369	61724369	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_004183.4(BEST1):c.26T>G (p.Val9Gly)	BEST1	Likely pathogenic	11	61719304	61719304	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)	USH2A	Pathogenic/Likely pathogenic	1	216258089	216258089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344858879
single nucleotide variant	NM_004183.4(BEST1):c.37C>G (p.Arg13Gly)	BEST1	Pathogenic/Likely pathogenic	11	61719315	61719315	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA380831194
single nucleotide variant	NM_004183.4(BEST1):c.397A>C (p.Asn133His)	BEST1	Likely pathogenic	11	61723339	61723339	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6040748
Deletion	NM_004183.4(BEST1):c.712del (p.Gln238fs)	BEST1	Pathogenic	11	61724934	61724934	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653799
Deletion	NM_001297.5(CNGB1):c.2867del (p.Ile956fs)	CNGB1	Pathogenic	16	57935457	57935457	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA623113505
single nucleotide variant	NM_000541.5(SAG):c.136+2T>G	SAG	Pathogenic/Likely pathogenic	2	234224783	234224783	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351043938
single nucleotide variant	NM_006017.3(PROM1):c.1578+1G>A	PROM1	Pathogenic/Likely pathogenic	4	16002118	16002118	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA356432932