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_003611.3(OFD1):c.412+1G>T	OFD1	Likely pathogenic	X	13757152	13757152	G	T	criteria provided, single submitter	-
Deletion	NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs)	OFD1	Likely pathogenic	X	13771492	13771496	CAACTT	C	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.12394del (p.Leu4132fs)	USH2A	Pathogenic	1	215848859	215848859	AG	A	criteria provided, single submitter	ClinVar:560515
single nucleotide variant	NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)	USH2A	Pathogenic	1	216073510	216073510	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)	USH2A	Pathogenic	1	216143998	216143998	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	USH2A	Pathogenic/Likely pathogenic	1	216166445	216166445	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)	RPE65	Likely pathogenic	1	68896799	68896799	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000350.3(ABCA4):c.4539+2001G>A	ABCA4	Pathogenic	1	94493000	94493000	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000283.4(PDE6B):c.837del (p.Asp279fs)	PDE6B	Likely pathogenic	4	647766	647766	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)	EYS	Pathogenic/Likely pathogenic	6	65098611	65098611	C	A	criteria provided, multiple submitters, no conflicts	-