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
Duplication	NM_206933.4(USH2A):c.11290dup (p.Ile3764fs)	USH2A	Likely pathogenic	1	215932035	215932036	A	AT	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.13985del (p.Gln4662fs)	USH2A	Pathogenic/Likely pathogenic	1	215844462	215844462	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.13811+1G>A	USH2A	Pathogenic/Likely pathogenic	1	215847441	215847441	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.13700del (p.Leu4567fs)	USH2A	Pathogenic	1	215847553	215847553	GA	G	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer)	USH2A	Likely pathogenic	1	215847697	215847697	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.11048-2A>G	USH2A	Pathogenic/Likely pathogenic	1	215933187	215933187	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.15380del (p.Pro5127fs)	USH2A	Pathogenic/Likely pathogenic	1	215802295	215802295	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.10388-1G>A	USH2A	Pathogenic	1	215956278	215956278	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)	USH2A	Pathogenic/Likely pathogenic	1	215812532	215812532	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs)	USH2A	Likely pathogenic	1	215848390	215848394	TGGTGG	T	criteria provided, single submitter	-