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.6077T>C (p.Leu2026Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94471067	94471067	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602410
single nucleotide variant	NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)	ABCA4	Likely pathogenic	1	94473253	94473253	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602412
single nucleotide variant	NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)	ABCA4	Likely pathogenic	1	94473286	94473286	A	G	criteria provided, single submitter	ClinGen:CA10602413
single nucleotide variant	NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94473808	94473808	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA957094
single nucleotide variant	NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94474314	94474314	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602414
single nucleotide variant	NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)	ABCA4	Likely pathogenic	1	94476414	94476414	C	T	criteria provided, single submitter	ClinGen:CA10602415
single nucleotide variant	NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)	ABCA4	Likely pathogenic	1	94476844	94476844	G	T	criteria provided, single submitter	ClinGen:CA10602416
single nucleotide variant	NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94476889	94476889	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602417
single nucleotide variant	NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)	ABCA4	Likely pathogenic	1	94476890	94476890	G	T	criteria provided, single submitter	ClinGen:CA10602418
single nucleotide variant	NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu)	ABCA4	Likely pathogenic	1	94480196	94480196	G	A	criteria provided, single submitter	ClinGen:CA10602419