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.1228G>T (p.Glu410Ter)	USH2A	Pathogenic	1	216497610	216497610	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	USH2A	Pathogenic	1	216497582	216497582	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252239,UniProtKB:O75445#VAR_025767,OMIM:608400.0009
single nucleotide variant	NM_206933.4(USH2A):c.1391G>A (p.Arg464His)	USH2A	Pathogenic/Likely pathogenic	1	216496975	216496975	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.1558del (p.Cys520fs)	USH2A	Pathogenic/Likely pathogenic	1	216495311	216495311	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581647
single nucleotide variant	NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	USH2A	Pathogenic	1	216495263	216495263	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA262095,UniProtKB:O75445#VAR_025769
Deletion	NM_206933.2(USH2A):c.1644+10004_1972-12164del	USH2A	Likely pathogenic	1	216436604	216485221	na	na	criteria provided, single submitter	-
Deletion	NM_206933.2(USH2A):c.(?_1645)_(1840_?)del	USH2A	Pathogenic	1	216465517	216465712	na	na	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.1679del (p.Pro560fs)	USH2A	Pathogenic	1	216465678	216465678	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396426
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.1803del (p.Gly602fs)	USH2A	Pathogenic	1	216465554	216465554	CT	C	criteria provided, single submitter	ClinGen:CA658795193