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.3292C>T (p.Arg1098Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94508353	94508353	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA957993
single nucleotide variant	NM_000350.3(ABCA4):c.3289A>T (p.Arg1097Ter)	ABCA4	Pathogenic	1	94508356	94508356	T	A	criteria provided, multiple submitters, no conflicts	ClinVar:236091
Deletion	NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)	ABCA4	Pathogenic	1	94508989	94508989	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602439
single nucleotide variant	NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	ABCA4	Pathogenic	1	94512499	94512499	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA958124,UniProtKB:P78363#VAR_008430
single nucleotide variant	NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)	ABCA4	Pathogenic	1	94514475	94514475	C	A	criteria provided, single submitter	ClinGen:CA10602442
single nucleotide variant	NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)	ABCA4	Likely pathogenic	1	94517233	94517233	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA958220
single nucleotide variant	NM_000350.3(ABCA4):c.2160+1G>T	ABCA4	Pathogenic/Likely pathogenic	1	94526092	94526092	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602443
single nucleotide variant	NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)	ABCA4	Likely pathogenic	1	94528152	94528152	G	C	criteria provided, single submitter	ClinGen:CA10602444
single nucleotide variant	NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)	ABCA4	Likely pathogenic	1	94528179	94528179	C	T	criteria provided, single submitter	ClinGen:CA10602445
single nucleotide variant	NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)	ABCA4	Pathogenic/Likely pathogenic	1	94528248	94528248	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA958417,UniProtKB:P78363#VAR_008419