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.4397-1G>A	USH2A	Likely pathogenic	1	216348825	216348825	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.9258+1G>T	USH2A	Pathogenic/Likely pathogenic	1	216017635	216017635	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)	USH2A	Pathogenic/Likely pathogenic	1	216369952	216369953	G	GTCATA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.3891del (p.Gln1298fs)	USH2A	Likely pathogenic	1	216371847	216371847	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.10388-2A>G	USH2A	Pathogenic/Likely pathogenic	1	215956279	215956279	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)	USH2A	Pathogenic/Likely pathogenic	1	215853517	215853517	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)	USH2A	Pathogenic/Likely pathogenic	1	215853553	215853553	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_206933.4(USH2A):c.3680dup (p.Cys1228fs)	USH2A	Likely pathogenic	1	216373099	216373100	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)	USH2A	Pathogenic	1	216040360	216040360	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.8682-1G>A	USH2A	Likely pathogenic	1	216040513	216040513	C	T	criteria provided, single submitter	-