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.7493del (p.Ser2498fs)	USH2A	Pathogenic/Likely pathogenic	1	216073518	216073518	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs)	USH2A	Pathogenic/Likely pathogenic	1	215916633	215916636	TTGAG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)	USH2A	Pathogenic/Likely pathogenic	1	216138812	216138812	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)	USH2A	Pathogenic/Likely pathogenic	1	215955488	215955488	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_206933.4(USH2A):c.6868dup (p.Ser2290fs)	USH2A	Likely pathogenic	1	216144055	216144056	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.14791+2T>A	USH2A	Pathogenic/Likely pathogenic	1	215820862	215820862	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.10179del (p.Met3393fs)	USH2A	Likely pathogenic	1	215963404	215963404	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.11231+1G>A	USH2A	Likely pathogenic	1	215933001	215933001	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.6805+1G>T	USH2A	Pathogenic/Likely pathogenic	1	216166361	216166361	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.6326-2A>G	USH2A	Likely pathogenic	1	216173906	216173906	T	C	criteria provided, multiple submitters, no conflicts	-