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_001354768.3(NRL):c.339C>G (p.Tyr113Ter)	NRL	Pathogenic/Likely pathogenic	14	24551719	24551719	G	C	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_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_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_006269.2(RP1):c.2296C>T (p.Gln766Ter)	RP1	Pathogenic/Likely pathogenic	8	55538738	55538738	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.8830del (p.Val2944fs)	EYS	Pathogenic/Likely pathogenic	6	64431097	64431097	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_201548.5(CERKL):c.239-1G>A	CERKL	Pathogenic/Likely pathogenic	2	182468807	182468807	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)	USH2A	Pathogenic/Likely pathogenic	1	216260140	216260146	ACCATTC	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)	USH2A	Pathogenic/Likely pathogenic	1	216380634	216380635	CTG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)	HGSNAT	Pathogenic/Likely pathogenic	8	43052991	43052991	C	T	criteria provided, multiple submitters, no conflicts	-