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.8835G>A (p.Trp2945Ter)	USH2A	Likely pathogenic	1	216040359	216040359	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)	USH2A	Pathogenic/Likely pathogenic	1	216595636	216595636	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.5572+1G>A	USH2A	Pathogenic/Likely pathogenic	1	216251430	216251430	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.8240del (p.Pro2747fs)	USH2A	Pathogenic/Likely pathogenic	1	216052424	216052424	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.5278del (p.Asp1760fs)	USH2A	Pathogenic/Likely pathogenic	1	216256818	216256818	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.5083del (p.Ser1695fs)	USH2A	Pathogenic/Likely pathogenic	1	216258124	216258124	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter)	USH2A	Pathogenic/Likely pathogenic	1	216073443	216073443	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_206933.4(USH2A):c.4818dup (p.Trp1607fs)	USH2A	Pathogenic/Likely pathogenic	1	216262421	216262422	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)	USH2A	Pathogenic	1	215990440	215990440	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.8846-1G>T	USH2A	Likely pathogenic	1	216019376	216019376	C	A	criteria provided, multiple submitters, no conflicts	-