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.2168-1G>C	USH2A	Pathogenic	1	216420569	216420569	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	USH2A	Pathogenic	1	216420527	216420527	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252242,OMIM:608400.0011
single nucleotide variant	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A	Pathogenic	1	216420460	216420460	C	A	reviewed by expert panel	ClinGen:CA252233,UniProtKB:O75445#VAR_025775,OMIM:608400.0006
single nucleotide variant	NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)	USH2A	Pathogenic	1	216420443	216420443	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A	Pathogenic	1	216420437	216420437	TC	T	criteria provided, multiple submitters, no conflicts	OMIM:608400.0001,ClinGen:CA252226,ClinVar:560516
single nucleotide variant	NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)	USH2A	Pathogenic/Likely pathogenic	1	216420432	216420432	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588282
single nucleotide variant	NM_206933.4(USH2A):c.2384G>A (p.Cys795Tyr)	USH2A	Likely pathogenic	1	216420352	216420352	C	T	criteria provided, single submitter	ClinGen:CA1396239
single nucleotide variant	NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)	USH2A	Pathogenic	1	216420195	216420195	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273290
single nucleotide variant	NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	USH2A	Pathogenic	1	216420126	216420126	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)	USH2A	Pathogenic/Likely pathogenic	1	216420120	216420120	CT	C	criteria provided, multiple submitters, no conflicts	-