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.6449G>A (p.Cys2150Tyr)	ABCA4	Pathogenic/Likely pathogenic	1	94466422	94466422	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227408,UniProtKB:P78363#VAR_008489
single nucleotide variant	NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu)	ABCA4	Likely pathogenic	1	94466425	94466425	C	A	criteria provided, single submitter	ClinGen:CA227406,UniProtKB:P78363#VAR_012612
single nucleotide variant	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4	Pathogenic	1	94466426	94466426	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227404
single nucleotide variant	NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp)	ABCA4	Likely pathogenic	1	94466434	94466434	C	T	criteria provided, single submitter	ClinGen:CA227403,UniProtKB:P78363#VAR_012611
single nucleotide variant	NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)	ABCA4	Pathogenic	1	94466456	94466456	G	A	criteria provided, single submitter	ClinGen:CA227402,UniProtKB:P78363#VAR_008488
single nucleotide variant	NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	ABCA4	Pathogenic/Likely pathogenic	1	94466480	94466480	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227401,UniProtKB:P78363#VAR_008487
single nucleotide variant	NM_000350.3(ABCA4):c.6386+2C>G	ABCA4	Pathogenic	1	94466556	94466556	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227400
single nucleotide variant	NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)	ABCA4	Pathogenic	1	94466561	94466561	T	C	criteria provided, single submitter	ClinGen:CA227399,UniProtKB:P78363#VAR_008486
single nucleotide variant	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Pathogenic/Likely pathogenic	1	94466602	94466602	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227396
single nucleotide variant	NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)	ABCA4	Pathogenic	1	94466615	94466615	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227392