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.1659C>G (p.Phe553Leu)	ABCA4	Pathogenic	1	94528769	94528769	G	C	criteria provided, single submitter	ClinGen:CA226916
single nucleotide variant	NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94528713	94528713	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226919,UniProtKB:P78363#VAR_008416
single nucleotide variant	NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)	ABCA4	Likely pathogenic	1	94528281	94528281	G	A	criteria provided, single submitter	ClinGen:CA226926
single nucleotide variant	NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr)	ABCA4	Likely pathogenic	1	94577118	94577118	C	T	criteria provided, single submitter	ClinGen:CA226928,UniProtKB:P78363#VAR_012497
single nucleotide variant	NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	ABCA4	Pathogenic/Likely pathogenic	1	94577117	94577117	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226931,UniProtKB:P78363#VAR_008492
single nucleotide variant	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4	Pathogenic/Likely pathogenic	1	94528266	94528266	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226932,UniProtKB:P78363#VAR_008418
single nucleotide variant	NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)	ABCA4	Pathogenic/Likely pathogenic	1	94528265	94528265	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226933,UniProtKB:P78363#VAR_012523
single nucleotide variant	NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu)	ABCA4	Likely pathogenic	1	94528248	94528248	A	G	criteria provided, single submitter	ClinGen:CA226938
single nucleotide variant	NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)	ABCA4	Likely pathogenic	1	94528217	94528217	C	T	criteria provided, single submitter	ClinGen:CA226943
single nucleotide variant	NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys)	ABCA4	Likely pathogenic	1	94528167	94528167	G	T	criteria provided, single submitter	ClinGen:CA226948,UniProtKB:P78363#VAR_012526