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_206933.4(USH2A):c.1841-2A>G	USH2A	Pathogenic	1	216462754	216462754	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA262097
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.1876C>T (p.Arg626Ter)	USH2A	Pathogenic	1	216462717	216462717	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396371
single nucleotide variant	NM_206933.4(USH2A):c.1972-1G>A	USH2A	Pathogenic/Likely pathogenic	1	216424441	216424441	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007123.6(USH2A):c.1992dup (p.Lys665Ter)	USH2A	Pathogenic	1	216424419	216424420	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA273575
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	-
single nucleotide variant	NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)	USH2A	Pathogenic	1	216424384	216424384	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	USH2A	Likely pathogenic	1	216424331	216424331	C	T	reviewed by expert panel	ClinGen:CA1396311
single nucleotide variant	NM_206933.4(USH2A):c.2167+5G>A	USH2A	Pathogenic/Likely pathogenic	1	216424240	216424240	C	T	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	-