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.155-2A>G	RPGR	Pathogenic	X	38182200	38182200	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220673
single nucleotide variant	NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)	RPGR	Pathogenic/Likely pathogenic	X	38176683	38176683	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220674
single nucleotide variant	NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)	RPGR	Likely pathogenic	X	38164016	38164016	C	T	criteria provided, single submitter	ClinGen:CA220676
single nucleotide variant	NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94508323	94508323	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220683,UniProtKB:P78363#VAR_012562,ClinVar:1048126
single nucleotide variant	NM_000350.3(ABCA4):c.4540-2A>G	ABCA4	Pathogenic	1	94490606	94490606	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220686
single nucleotide variant	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Pathogenic/Likely pathogenic	1	94476951	94476951	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220687,OMIM:601691.0030,ClinVar:1048134
single nucleotide variant	NM_000350.3(ABCA4):c.67-2A>G	ABCA4	Pathogenic/Likely pathogenic	1	94578624	94578624	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA345425
single nucleotide variant	NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	EYS	Pathogenic	6	64574212	64574212	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA221547
Duplication	NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)	EYS	Pathogenic	6	64431518	64431519	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA221549
single nucleotide variant	NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)	CNGB1	Pathogenic	16	57984367	57984367	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221645