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.895del (p.Gln299fs)	USH2A	Pathogenic	1	216498895	216498895	TG	T	criteria provided, single submitter	ClinGen:CA529004272
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.820C>T (p.Arg274Ter)	USH2A	Pathogenic	1	216500961	216500961	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262118
single nucleotide variant	NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)	USH2A	Pathogenic	1	216500961	216500961	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396686
single nucleotide variant	NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)	USH2A	Pathogenic/Likely pathogenic	1	216500979	216500979	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA143613,UniProtKB:O75445#VAR_054557
Deletion	NM_206933.2(USH2A):c.(?_785)_(1840_?)del	USH2A	Pathogenic	1	216465517	216500996	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_216292165)_(216327664_?)del	USH2A	Pathogenic	1	216465507	216501006	na	na	criteria provided, single submitter	-
Deletion	NC_000001.10:g.216144119_216591855del447737	USH2A	Pathogenic	1	216144119	216591855	na	na	criteria provided, single submitter	-
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.632G>A (p.Trp211Ter)	USH2A	Pathogenic	1	216591875	216591875	C	T	criteria provided, single submitter	ClinGen:CA273632