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.1972-1G>A	USH2A	Pathogenic/Likely pathogenic	1	216424441	216424441	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.4081+2T>C	USH2A	Likely pathogenic	1	216371655	216371655	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)	USH2A	Pathogenic	1	216419939	216419939	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.2168-1G>C	USH2A	Pathogenic	1	216420569	216420569	C	G	criteria provided, multiple submitters, no conflicts	-
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.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.1859G>T (p.Cys620Phe)	USH2A	Likely pathogenic	1	216462734	216462734	C	A	reviewed by expert panel	-
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.651+1G>A	USH2A	Likely pathogenic	1	216591855	216591855	C	T	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	-