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_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter)	ABCA4	Pathogenic	1	94495034	94495034	G	T	criteria provided, single submitter	ClinGen:CA227199
Duplication	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4	Pathogenic	1	94495002	94495003	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA227205
single nucleotide variant	NM_000350.3(ABCA4):c.4539+1G>T	ABCA4	Pathogenic	1	94495000	94495000	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227207,OMIM:601691.0009
single nucleotide variant	NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94568687	94568687	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227213
single nucleotide variant	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	ABCA4	Pathogenic/Likely pathogenic	1	94490567	94490567	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227218,UniProtKB:P78363#VAR_008456
single nucleotide variant	NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	ABCA4	Pathogenic/Likely pathogenic	1	94490550	94490550	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227219,UniProtKB:P78363#VAR_008457
single nucleotide variant	NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)	ABCA4	Pathogenic	1	94586557	94586557	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227220
single nucleotide variant	NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)	ABCA4	Likely pathogenic	1	94487427	94487427	A	G	criteria provided, single submitter	ClinGen:CA227233
single nucleotide variant	NM_000350.3(ABCA4):c.4773+1G>T	ABCA4	Pathogenic	1	94487401	94487401	C	A	criteria provided, single submitter	ClinGen:CA227235
single nucleotide variant	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4	Pathogenic/Likely pathogenic	1	94487251	94487251	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227239,UniProtKB:P78363#VAR_012581