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.7999G>T (p.Glu2667Ter)	USH2A	Pathogenic	1	216061992	216061992	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter)	USH2A	Pathogenic	1	215933168	215933168	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)	USH2A	Pathogenic	1	215808009	215808009	G	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)	USH2A	Pathogenic/Likely pathogenic	1	216260140	216260146	ACCATTC	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)	USH2A	Pathogenic/Likely pathogenic	1	216380634	216380635	CTG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter)	USH2A	Pathogenic/Likely pathogenic	1	215853634	215853634	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter)	USH2A	Pathogenic	1	216373119	216373119	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	USH2A	Pathogenic/Likely pathogenic	1	216166445	216166445	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)	USH2A	Pathogenic	1	216143998	216143998	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter)	USH2A	Pathogenic	1	216073510	216073510	G	A	criteria provided, single submitter	-