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_206933.4(USH2A):c.15403del (p.Thr5135fs)	USH2A	Pathogenic	1	215802272	215802272	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8271T>G (p.Tyr2757Ter)	USH2A	Pathogenic	1	216052393	216052393	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter)	USH2A	Pathogenic	1	216424384	216424384	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)	USH2A	Likely pathogenic	1	216011358	216011358	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.9056-2A>G	USH2A	Pathogenic	1	216017840	216017840	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.1391G>A (p.Arg464His)	USH2A	Pathogenic/Likely pathogenic	1	216496975	216496975	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)	USH2A	Pathogenic	1	216370000	216370000	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)	USH2A	Pathogenic/Likely pathogenic	1	216052410	216052410	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)	USH2A	Pathogenic	1	216061902	216061902	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter)	USH2A	Pathogenic	1	216420443	216420443	G	A	criteria provided, multiple submitters, no conflicts	-