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
Deletion	NM_006915.3(RP2):c.392del (p.Cys131fs)	RP2	Likely pathogenic	X	46713200	46713200	TG	T	criteria provided, single submitter	ClinGen:CA16621891
single nucleotide variant	NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)	CRB1	Pathogenic/Likely pathogenic	1	197396956	197396956	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344037829
single nucleotide variant	NM_206933.4(USH2A):c.5776+2T>C	USH2A	Pathogenic	1	216246437	216246437	A	G	criteria provided, single submitter	ClinGen:CA37437179
single nucleotide variant	NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)	ABCA4	Pathogenic/Likely pathogenic	1	94486941	94486941	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341283189
Deletion	NM_152419.3(HGSNAT):c.739del (p.Arg247fs)	HGSNAT	Pathogenic	8	43025833	43025833	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293874
single nucleotide variant	NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	CRB1	Pathogenic	1	197398744	197398744	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344041407
single nucleotide variant	NM_206933.4(USH2A):c.11389+3A>T	USH2A	Pathogenic/Likely pathogenic	1	215931934	215931934	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1393757
single nucleotide variant	NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	RPE65	Pathogenic/Likely pathogenic	1	68896965	68896965	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340742354
single nucleotide variant	NM_006915.3(RP2):c.102G>A (p.Lys34=)	RP2	Likely pathogenic	X	46696637	46696637	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA516252066
single nucleotide variant	NM_004183.4(BEST1):c.400C>G (p.Leu134Val)	BEST1	Pathogenic/Likely pathogenic	11	61723342	61723342	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6040750