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.1036A>C (p.Asn346His)	USH2A	Pathogenic	1	216498754	216498754	T	G	reviewed by expert panel	ClinGen:CA262054,UniProtKB:O75445#VAR_025766
single nucleotide variant	NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)	USH2A	Pathogenic/Likely pathogenic	1	215956215	215956215	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262056
single nucleotide variant	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A	Pathogenic/Likely pathogenic	1	215956104	215956104	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA262058,UniProtKB:O75445#VAR_054603
single nucleotide variant	NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	USH2A	Pathogenic/Likely pathogenic	1	215955412	215955412	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262060,UniProtKB:O75445#VAR_054604
single nucleotide variant	NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)	USH2A	Pathogenic/Likely pathogenic	1	215955400	215955400	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262062
single nucleotide variant	NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)	USH2A	Pathogenic/Likely pathogenic	1	215953365	215953365	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262064
single nucleotide variant	NM_206933.4(USH2A):c.11231+1G>T	USH2A	Likely pathogenic	1	215933001	215933001	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262067
Deletion	NM_206933.4(USH2A):c.11411del (p.Pro3804fs)	USH2A	Pathogenic	1	215916656	215916656	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA262068
single nucleotide variant	NM_206933.4(USH2A):c.1143+1G>A	USH2A	Pathogenic	1	216498646	216498646	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262069
single nucleotide variant	NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)	USH2A	Pathogenic/Likely pathogenic	1	215901484	215901484	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA262070