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.4347G>T (p.Trp1449Cys)	ABCA4	Likely pathogenic	1	94495989	94495989	C	A	criteria provided, single submitter	ClinGen:CA10602430
single nucleotide variant	NM_000350.3(ABCA4):c.4254-1G>C	ABCA4	Pathogenic/Likely pathogenic	1	94496083	94496083	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602431
single nucleotide variant	NM_000350.3(ABCA4):c.4253+5G>A	ABCA4	Pathogenic	1	94496547	94496547	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602432
single nucleotide variant	NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94496610	94496610	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA957690
single nucleotide variant	NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)	ABCA4	Pathogenic	1	94497591	94497591	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA957778
single nucleotide variant	NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)	ABCA4	Likely pathogenic	1	94502343	94502343	A	G	criteria provided, single submitter	ClinGen:CA10602434
single nucleotide variant	NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=)	ABCA4	Pathogenic	1	94502701	94502701	C	T	criteria provided, single submitter	ClinGen:CA10602435
Duplication	NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)	ABCA4	Pathogenic	1	94505673	94505674	C	CTGCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602436
single nucleotide variant	NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	ABCA4	Pathogenic/Likely pathogenic	1	94506805	94506805	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA957928
single nucleotide variant	NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94506910	94506910	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602437