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.949C>A (p.Arg317=)	USH2A	Pathogenic	1	216498841	216498841	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252237,OMIM:608400.0008
single nucleotide variant	NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	USH2A	Pathogenic	1	216498834	216498834	C	T	reviewed by expert panel	ClinGen:CA252231,UniProtKB:O75445#VAR_025764,OMIM:608400.0005
single nucleotide variant	NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	USH2A	Pathogenic/Likely pathogenic	1	216498790	216498790	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396625,UniProtKB:O75445#VAR_025765
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.1055C>T (p.Thr352Ile)	USH2A	Pathogenic/Likely pathogenic	1	216498735	216498735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396612
Deletion	NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)	USH2A	Pathogenic/Likely pathogenic	1	216498678	216498679	AAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA529004316
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
Deletion	NM_206933.4(USH2A):c.1214del (p.Asn405fs)	USH2A	Pathogenic	1	216497624	216497624	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274501
single nucleotide variant	NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)	USH2A	Pathogenic	1	216497611	216497611	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603533
single nucleotide variant	NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys)	USH2A	Likely pathogenic	1	216497611	216497611	C	G	criteria provided, single submitter	ClinGen:CA262075