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
Indel	NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs)	USH2A	Likely pathogenic	1	215916663	215916664	CG	AAA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)	USH2A	Pathogenic	1	215848045	215848046	GCC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.9055+1G>A	USH2A	Likely pathogenic	1	216019165	216019165	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter)	USH2A	Likely pathogenic	1	215848159	215848159	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8682-2A>C	USH2A	Likely pathogenic	1	216040514	216040514	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)	USH2A	Likely pathogenic	1	215901607	215901607	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_206933.4(USH2A):c.11815dup (p.Glu3939fs)	USH2A	Likely pathogenic	1	215901622	215901623	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)	USH2A	Pathogenic/Likely pathogenic	1	216052107	216052107	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.11712-2A>G	USH2A	Likely pathogenic	1	215901728	215901728	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)	USH2A	Pathogenic	1	216061912	216061912	C	T	criteria provided, multiple submitters, no conflicts	-