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.5288T>C (p.Leu1763Pro)	ABCA4	Likely pathogenic	1	94481319	94481319	A	G	criteria provided, single submitter	ClinGen:CA227295,UniProtKB:P78363#VAR_012592
single nucleotide variant	NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94480243	94480243	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227298
single nucleotide variant	NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94480222	94480222	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227303
single nucleotide variant	NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	ABCA4	Pathogenic/Likely pathogenic	1	94480178	94480178	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227304,UniProtKB:P78363#VAR_008466,ClinVar:236131
single nucleotide variant	NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp)	ABCA4	Likely pathogenic	1	94480164	94480164	T	C	criteria provided, single submitter	ClinGen:CA227305,UniProtKB:P78363#VAR_012595
single nucleotide variant	NM_000350.3(ABCA4):c.5460+1G>A	ABCA4	Pathogenic	1	94480098	94480098	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227308
single nucleotide variant	NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)	ABCA4	Pathogenic/Likely pathogenic	1	94476890	94476890	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227313,ClinVar:635154
single nucleotide variant	NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr)	ABCA4	Pathogenic/Likely pathogenic	1	94476890	94476890	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227315,UniProtKB:P78363#VAR_008468
single nucleotide variant	NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)	ABCA4	Pathogenic/Likely pathogenic	1	94476875	94476875	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227316,UniProtKB:P78363#VAR_008469
single nucleotide variant	NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)	ABCA4	Pathogenic/Likely pathogenic	1	94476865	94476865	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227317,UniProtKB:P78363#VAR_008494