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.6675dup (p.Cys2226fs)	USH2A	Likely pathogenic	1	216166491	216166492	A	AC	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.8391del (p.Gly2799fs)	USH2A	Likely pathogenic	1	216052273	216052273	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.7595-1G>T	USH2A	Likely pathogenic	1	216062397	216062397	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.4988-2A>G	USH2A	Likely pathogenic	1	216258221	216258221	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.4886-1G>A	USH2A	Likely pathogenic	1	216260163	216260163	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter)	USH2A	Pathogenic/Likely pathogenic	1	216262419	216262419	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)	USH2A	Pathogenic	1	216371818	216371818	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)	USH2A	Pathogenic	1	216371855	216371855	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_206933.4(USH2A):c.7531del (p.Val2511fs)	USH2A	Likely pathogenic	1	216073480	216073480	AC	A	criteria provided, single submitter	-
Duplication	NM_206933.4(USH2A):c.7130dup (p.Asn2377fs)	USH2A	Likely pathogenic	1	216108127	216108128	G	GT	criteria provided, single submitter	-