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_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	BBS2	Pathogenic/Likely pathogenic	16	56534926	56534926	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8065780
single nucleotide variant	NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)	USH2A	Pathogenic/Likely pathogenic	1	215848562	215848562	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042307
single nucleotide variant	NM_206933.4(USH2A):c.486-14G>A	USH2A	Pathogenic/Likely pathogenic	1	216592035	216592035	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396771
single nucleotide variant	NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94526265	94526265	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042332
Deletion	NM_000329.3(RPE65):c.893del (p.Lys298fs)	RPE65	Pathogenic	1	68904730	68904730	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226586
Duplication	NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	ABCA4	Pathogenic/Likely pathogenic	1	94508433	94508434	G	GAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA958005
single nucleotide variant	NM_000350.3(ABCA4):c.3682G>T (p.Glu1228Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94502832	94502832	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042373
single nucleotide variant	NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)	ABCA4	Pathogenic	1	94528236	94528236	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042375
single nucleotide variant	NM_000350.3(ABCA4):c.6816+1G>A	ABCA4	Pathogenic	1	94461664	94461664	C	T	criteria provided, single submitter	ClinGen:CA16042403
single nucleotide variant	NM_000350.3(ABCA4):c.3403C>T (p.Gln1135Ter)	ABCA4	Pathogenic	1	94506884	94506884	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042404