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.2893A>G (p.Asn965Asp)	ABCA4	Likely pathogenic	1	94512500	94512500	T	C	criteria provided, single submitter	ClinGen:CA227048
single nucleotide variant	NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)	ABCA4	Pathogenic/Likely pathogenic	1	94512481	94512481	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227050,UniProtKB:P78363#VAR_012547
single nucleotide variant	NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	ABCA4	Pathogenic/Likely pathogenic	1	94512478	94512478	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227051,UniProtKB:P78363#VAR_012548
Duplication	NM_000350.3(ABCA4):c.296dup (p.Asn99fs)	ABCA4	Pathogenic	1	94576999	94577000	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA227060
single nucleotide variant	NM_000350.3(ABCA4):c.2971G>T (p.Gly991Ter)	ABCA4	Pathogenic	1	94510248	94510248	C	A	criteria provided, single submitter	ClinGen:CA227062
single nucleotide variant	NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro)	ABCA4	Likely pathogenic	1	94576998	94576998	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227065,UniProtKB:P78363#VAR_012502
single nucleotide variant	NM_000350.3(ABCA4):c.302+1G>A	ABCA4	Pathogenic/Likely pathogenic	1	94576993	94576993	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227068
single nucleotide variant	NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94510178	94510178	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227072,UniProtKB:P78363#VAR_012552
single nucleotide variant	NM_000350.3(ABCA4):c.3050+5G>A	ABCA4	Pathogenic	1	94510164	94510164	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227073
single nucleotide variant	NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)	ABCA4	Pathogenic	1	94509027	94509027	T	C	criteria provided, single submitter	ClinGen:CA227075,UniProtKB:P78363#VAR_012553