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.4539+1G>T	ABCA4	Pathogenic	1	94495000	94495000	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227207,OMIM:601691.0009
Duplication	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4	Pathogenic	1	94495002	94495003	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA227205
single nucleotide variant	NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter)	ABCA4	Pathogenic	1	94495034	94495034	G	T	criteria provided, single submitter	ClinGen:CA227199
single nucleotide variant	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4	Pathogenic	1	94495071	94495071	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227198,UniProtKB:P78363#VAR_008454
single nucleotide variant	NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)	ABCA4	Pathogenic/Likely pathogenic	1	94495077	94495077	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227195,UniProtKB:P78363#VAR_012575
single nucleotide variant	NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)	ABCA4	Pathogenic/Likely pathogenic	1	94495077	94495077	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227194,UniProtKB:P78363#VAR_012576
single nucleotide variant	NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94495078	94495078	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227193,UniProtKB:P78363#VAR_008453
single nucleotide variant	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	ABCA4	Pathogenic/Likely pathogenic	1	94495083	94495083	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227192,UniProtKB:P78363#VAR_008452
single nucleotide variant	NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	ABCA4	Pathogenic	1	94495104	94495104	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227190
single nucleotide variant	NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	ABCA4	Pathogenic/Likely pathogenic	1	94496008	94496008	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227185,UniProtKB:P78363#VAR_012574