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.3589del (p.Ser1197fs)	USH2A	Pathogenic/Likely pathogenic	1	216373191	216373191	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.3317-1G>A	USH2A	Likely pathogenic	1	216373464	216373464	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.11389+1del	USH2A	Pathogenic/Likely pathogenic	1	215931936	215931936	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter)	USH2A	Pathogenic/Likely pathogenic	1	215931998	215931998	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.8558+1G>T	USH2A	Pathogenic/Likely pathogenic	1	216052105	216052105	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.2168-2A>G	USH2A	Pathogenic/Likely pathogenic	1	216420570	216420570	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)	USH2A	Pathogenic/Likely pathogenic	1	216465633	216465633	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.7620del (p.Leu2541fs)	USH2A	Pathogenic/Likely pathogenic	1	216062371	216062371	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.7595-1G>A	USH2A	Likely pathogenic	1	216062397	216062397	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)	USH2A	Pathogenic/Likely pathogenic	1	216017775	216017775	C	T	criteria provided, multiple submitters, no conflicts	-