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.6708_6717del (p.Asp2237fs)	USH2A	Likely pathogenic	1	216166450	216166459	TGTCCTCGTCA	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.2994-2A>G	USH2A	Likely pathogenic	1	216390894	216390894	T	C	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.6672dup (p.Gly2225fs)	USH2A	Pathogenic/Likely pathogenic	1	216166494	216166495	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	USH2A	Pathogenic	1	216420126	216420126	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs)	USH2A	Likely pathogenic	1	216243608	216243609	CTT	C	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs)	USH2A	Likely pathogenic	1	216251492	216251504	AAACTGGTGAATTC	A	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)	USH2A	Pathogenic/Likely pathogenic	1	216258040	216258040	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)	USH2A	Pathogenic/Likely pathogenic	1	216420120	216420120	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)	USH2A	Pathogenic/Likely pathogenic	1	216369972	216369972	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.4082-2A>G	USH2A	Likely pathogenic	1	216370066	216370066	T	C	criteria provided, single submitter	-