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_003322.6(TULP1):c.1145T>C (p.Phe382Ser)	TULP1	Pathogenic	6	35471593	35471593	A	G	criteria provided, single submitter	ClinGen:CA254156,UniProtKB:O00294#VAR_037584,OMIM:602280.0006
single nucleotide variant	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4	Pathogenic/Likely pathogenic	1	94471065	94471065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119129,UniProtKB:P78363#VAR_008478,OMIM:601691.0004
single nucleotide variant	NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	ABCA4	Pathogenic/Likely pathogenic	1	94508976	94508976	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227082,UniProtKB:P78363#VAR_008432,OMIM:601691.0012
single nucleotide variant	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4	Pathogenic/Likely pathogenic	1	94508969	94508969	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119135,UniProtKB:P78363#VAR_008433,OMIM:601691.0016,OMIM:601691.0023,ClinVar:7901
single nucleotide variant	NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94564484	94564484	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA203216,UniProtKB:P78363#VAR_008406,OMIM:601691.0020
single nucleotide variant	NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	ABCA4	Pathogenic/Likely pathogenic	1	94586550	94586550	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227296,UniProtKB:P78363#VAR_008398,OMIM:601691.0021,ClinVar:1048166
single nucleotide variant	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94528806	94528806	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226911,UniProtKB:P78363#VAR_008415,OMIM:601691.0023,ClinVar:7901
single nucleotide variant	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4	Pathogenic/Likely pathogenic	1	94496666	94496666	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129033,UniProtKB:P78363#VAR_008443,OMIM:601691.0026
Deletion	NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	ABCA4	Pathogenic	1	94512505	94512505	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA119138,OMIM:601691.0027
single nucleotide variant	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94471056	94471056	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119140,OMIM:601691.0029