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_000350.3(ABCA4):c.4947del (p.Glu1650fs)	ABCA4	Pathogenic	1	94486867	94486867	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227257
single nucleotide variant	NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)	RPGR	Pathogenic/Likely pathogenic	X	38156564	38156564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606591
Deletion	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS	Pathogenic/Likely pathogenic	6	64430632	64430641	ACGATATTTAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3876673
Deletion	NM_006915.3(RP2):c.593_594del (p.Tyr198fs)	RP2	Pathogenic	X	46713400	46713401	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606608
single nucleotide variant	NM_201548.5(CERKL):c.1347T>A (p.Tyr449Ter)	CERKL	Pathogenic	2	182409445	182409445	A	T	criteria provided, single submitter	ClinGen:CA10606979
Deletion	NM_033100.4(CDHR1):c.2246_2253del (p.Arg749fs)	CDHR1	Likely pathogenic	10	85974042	85974049	CCGCACCAT	C	criteria provided, single submitter	ClinGen:CA10607015
Deletion	NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	EYS	Pathogenic/Likely pathogenic	6	64776242	64776242	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10624516,OMIM:612424.0006
single nucleotide variant	NM_001354768.3(NRL):c.91C>T (p.Arg31Ter)	NRL	Pathogenic/Likely pathogenic	14	24551967	24551967	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7122928
single nucleotide variant	NM_001297.5(CNGB1):c.2893-7G>A	CNGB1	Pathogenic	16	57935346	57935346	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8082767
Deletion	NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs)	USH2A	Likely pathogenic	1	215847990	215847996	CAAGGGAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040716