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.880C>T (p.Gln294Ter)	ABCA4	Pathogenic	1	94546253	94546253	G	A	criteria provided, single submitter	ClinGen:CA203573
single nucleotide variant	NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94476853	94476853	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA244968
single nucleotide variant	NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter)	ABCA4	Pathogenic	1	94495111	94495111	G	A	criteria provided, single submitter	ClinGen:CA346872
single nucleotide variant	NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)	ABCA4	Pathogenic	1	94544249	94544249	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA239111
Deletion	NM_000350.3(ABCA4):c.2927del (p.Leu976fs)	ABCA4	Pathogenic	1	94510292	94510292	CA	C	criteria provided, single submitter	ClinGen:CA279296
single nucleotide variant	NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)	ABCA4	Likely pathogenic	1	94564355	94564355	G	A	criteria provided, single submitter	ClinGen:CA170081
single nucleotide variant	NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	ABCA4	Pathogenic/Likely pathogenic	1	94471025	94471025	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA232815
single nucleotide variant	NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)	ABCA4	Pathogenic	1	94546150	94546150	T	A	criteria provided, single submitter	ClinGen:CA227477,UniProtKB:P78363#VAR_012513
single nucleotide variant	NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)	ABCA4	Pathogenic	1	94546151	94546151	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227475
single nucleotide variant	NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94546207	94546207	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227468,UniProtKB:P78363#VAR_012512