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_001034853.2(RPGR):c.2641G>T (p.Glu881Ter)	RPGR	Likely pathogenic	X	38145611	38145611	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)	USH2A	Pathogenic	1	216061902	216061902	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)	RPGR	Pathogenic	X	38145746	38145747	TCC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)	RPGR	Pathogenic	X	38145807	38145810	CCTCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004183.4(BEST1):c.915T>G (p.Phe305Leu)	BEST1	Likely pathogenic	11	61727017	61727017	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)	PRPH2	Pathogenic/Likely pathogenic	6	42672347	42672347	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)	RDH12	Pathogenic/Likely pathogenic	14	68193755	68193755	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006017.3(PROM1):c.1301+2T>C	PROM1	Pathogenic/Likely pathogenic	4	16010570	16010570	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys)	BEST1	Likely pathogenic	11	61719364	61719364	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter)	NRL	Pathogenic/Likely pathogenic	14	24551719	24551719	G	C	criteria provided, multiple submitters, no conflicts	-