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.14131C>T (p.Gln4711Ter)	USH2A	Pathogenic	1	215844316	215844316	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs)	USH2A	Likely pathogenic	1	215812506	215812512	GTAGAGGT	G	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.11703del (p.Phe3901fs)	USH2A	Likely pathogenic	1	215914725	215914725	TA	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer)	USH2A	Pathogenic/Likely pathogenic	1	215844549	215844549	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)	USH2A	Pathogenic/Likely pathogenic	1	215844625	215844625	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter)	USH2A	Likely pathogenic	1	215990456	215990456	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.13811+2T>C	USH2A	Likely pathogenic	1	215847440	215847440	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)	USH2A	Pathogenic	1	216011434	216011434	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.14969-1G>A	USH2A	Likely pathogenic	1	215812581	215812581	C	T	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.9191del (p.Thr3064fs)	USH2A	Likely pathogenic	1	216017703	216017703	AG	A	criteria provided, single submitter	-