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_006269.2(RP1):c.1186C>T (p.Arg396Ter)	RP1	Pathogenic/Likely pathogenic	8	55537628	55537628	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270091
Deletion	NM_006343.3(MERTK):c.225del (p.Gly76fs)	MERTK	Pathogenic	2	112686860	112686860	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA270100
single nucleotide variant	NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)	SNRNP200	Pathogenic/Likely pathogenic	2	96958828	96958828	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270107,UniProtKB:O75643#VAR_065588
single nucleotide variant	NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter)	PRPF31	Pathogenic	19	54627215	54627215	C	G	criteria provided, single submitter	ClinGen:CA270116
single nucleotide variant	NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	IMPG2	Pathogenic/Likely pathogenic	3	100949961	100949961	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270121
Deletion	NM_152443.3(RDH12):c.778del (p.Glu260fs)	RDH12	Pathogenic	14	68196025	68196025	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA270128,OMIM:608830.0015
single nucleotide variant	NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter)	RP1L1	Pathogenic	8	10469636	10469636	G	A	criteria provided, single submitter	ClinGen:CA270129
single nucleotide variant	NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	CRB1	Pathogenic	1	197390534	197390534	C	T	criteria provided, multiple submitters, no conflicts	ClinVar:982532,ClinGen:CA170083
single nucleotide variant	NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	USH2A	Pathogenic/Likely pathogenic	1	215933077	215933077	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270135,UniProtKB:O75445#VAR_072036
single nucleotide variant	NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	USH2A	Pathogenic/Likely pathogenic	1	215848243	215848243	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270139,UniProtKB:O75445#VAR_054612