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.214G>A (p.Gly72Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94577082	94577082	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226983,UniProtKB:P78363#VAR_012500
single nucleotide variant	NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter)	ABCA4	Pathogenic	1	94526154	94526154	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226978
single nucleotide variant	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94526212	94526212	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226973
single nucleotide variant	NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94577093	94577093	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226971,UniProtKB:P78363#VAR_012499
Deletion	NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)	ABCA4	Pathogenic/Likely pathogenic	1	94526247	94526248	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226970
single nucleotide variant	NM_000350.3(ABCA4):c.1A>G (p.Met1Val)	ABCA4	Pathogenic/Likely pathogenic	1	94586601	94586601	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226968,ClinVar:236068
single nucleotide variant	NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94526296	94526296	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226965,UniProtKB:P78363#VAR_012529
single nucleotide variant	NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	ABCA4	Pathogenic/Likely pathogenic	1	94577102	94577102	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226964,UniProtKB:P78363#VAR_008401
single nucleotide variant	NM_000350.3(ABCA4):c.1937+1G>A	ABCA4	Pathogenic	1	94528132	94528132	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226961
single nucleotide variant	NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)	ABCA4	Pathogenic	1	94528137	94528137	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226960,UniProtKB:P78363#VAR_008421