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
Deletion	NM_206933.2(USH2A):c.(?_4628)_(4987_?)del	USH2A	Pathogenic	1	216260061	216270555	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	USH2A	Pathogenic	1	215814065	215814065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273457
single nucleotide variant	NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)	USH2A	Pathogenic	1	215824029	215824029	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273630
Deletion	NM_206933.4(USH2A):c.13374del (p.Glu4458fs)	USH2A	Pathogenic	1	215847879	215847879	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273285
Deletion	NM_206933.4(USH2A):c.5877del (p.Ser1961fs)	USH2A	Pathogenic/Likely pathogenic	1	216243615	216243615	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273678
Deletion	NM_206933.3(USH2A):c.12295-?_14133+?del	USH2A	Likely pathogenic	1	215844314	215848958	na	na	reviewed by expert panel	-
Deletion	NM_206933.2(USH2A):c.(?_785)_(1840_?)del	USH2A	Pathogenic	1	216465517	216500996	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter)	USH2A	Pathogenic	1	215933088	215933088	A	T	criteria provided, single submitter	ClinGen:CA273579
Deletion	NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)	USH2A	Pathogenic/Likely pathogenic	1	216166370	216166372	ATAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273286
single nucleotide variant	NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter)	USH2A	Pathogenic/Likely pathogenic	1	216173832	216173832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273288