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_031885.5(BBS2):c.472del	BBS2	Pathogenic/Likely pathogenic	16	56544833	56544833	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116934,OMIM:606151.0012
single nucleotide variant	NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)	BBS2	Pathogenic	16	56540103	56540103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116935,OMIM:606151.0016
single nucleotide variant	NM_006343.3(MERTK):c.1605-2A>G	MERTK	Pathogenic	2	112758776	112758776	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA253473,OMIM:604705.0002
single nucleotide variant	NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)	MERTK	Pathogenic	2	112766043	112766043	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253474,OMIM:604705.0003
single nucleotide variant	NM_006343.3(MERTK):c.2189+1G>T	MERTK	Pathogenic	2	112777100	112777100	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253476,OMIM:604705.0004
single nucleotide variant	NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	NR2E3	Pathogenic	15	72103930	72103930	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA117571,UniProtKB:Q9Y5X4#VAR_009267,OMIM:604485.0002
single nucleotide variant	NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	NR2E3	Pathogenic/Likely pathogenic	15	72105913	72105913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117575,UniProtKB:Q9Y5X4#VAR_010034,OMIM:604485.0005
single nucleotide variant	NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	NR2E3	Pathogenic/Likely pathogenic	15	72103870	72103870	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253522,UniProtKB:Q9Y5X4#VAR_037026,OMIM:604485.0006
single nucleotide variant	NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	PROM1	Pathogenic	4	16014922	16014922	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117645,UniProtKB:O43490#VAR_057961,OMIM:604365.0003
single nucleotide variant	NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	CRB1	Pathogenic	1	197404115	197404115	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228031,UniProtKB:P82279#VAR_011646,OMIM:604210.0002