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.5936C>T (p.Thr1979Ile)	ABCA4	Pathogenic/Likely pathogenic	1	94473259	94473259	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227358
single nucleotide variant	NM_000350.3(ABCA4):c.6005+1G>T	ABCA4	Pathogenic/Likely pathogenic	1	94473189	94473189	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227363
single nucleotide variant	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4	Pathogenic/Likely pathogenic	1	94471055	94471055	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227366,UniProtKB:P78363#VAR_008480,ClinVar:236068
single nucleotide variant	NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	ABCA4	Pathogenic	1	94471032	94471032	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227368,UniProtKB:P78363#VAR_008495
single nucleotide variant	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4	Pathogenic	1	94471026	94471026	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227369
single nucleotide variant	NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94467530	94467530	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227371
single nucleotide variant	NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	ABCA4	Pathogenic	1	94467517	94467517	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227373,UniProtKB:P78363#VAR_012607
single nucleotide variant	NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly)	ABCA4	Pathogenic/Likely pathogenic	1	94467467	94467467	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227379,UniProtKB:P78363#VAR_012609
single nucleotide variant	NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	ABCA4	Pathogenic/Likely pathogenic	1	94467467	94467467	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227380,UniProtKB:P78363#VAR_008482
single nucleotide variant	NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94466628	94466628	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227388,UniProtKB:P78363#VAR_008484