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
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.187C>T (p.Arg63Ter)	USH2A	Pathogenic	1	216595492	216595492	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.449T>A (p.Leu150Ter)	USH2A	Pathogenic/Likely pathogenic	1	216595230	216595230	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.302del (p.Phe101fs)	USH2A	Likely pathogenic	1	216595377	216595377	GA	G	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)	USH2A	Pathogenic	1	216595439	216595440	G	GGTAC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.387del (p.Phe129fs)	USH2A	Pathogenic/Likely pathogenic	1	216595292	216595292	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.651+1G>A	USH2A	Likely pathogenic	1	216591855	216591855	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)	USH2A	Pathogenic/Likely pathogenic	1	216500953	216500953	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)	USH2A	Likely pathogenic	1	216462734	216462734	C	A	reviewed by expert panel	-
single nucleotide variant	NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)	USH2A	Pathogenic	1	216424389	216424389	G	A	criteria provided, multiple submitters, no conflicts	-