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_206933.2(USH2A):c.(?_7301)_(8223_?)del	USH2A	Pathogenic	1	216061768	216074247	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.13711G>T (p.Glu4571Ter)	USH2A	Pathogenic	1	215847542	215847542	C	A	criteria provided, single submitter	ClinGen:CA10576375
single nucleotide variant	NM_206933.4(USH2A):c.9570+1G>A	USH2A	Pathogenic	1	215990338	215990338	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1394291
single nucleotide variant	NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)	USH2A	Pathogenic/Likely pathogenic	1	216040454	216040454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1394520
single nucleotide variant	NM_206933.4(USH2A):c.8681+1G>A	USH2A	Pathogenic/Likely pathogenic	1	216051099	216051099	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576378
Deletion	NM_206933.4(USH2A):c.6639del (p.Lys2213fs)	USH2A	Pathogenic	1	216172247	216172247	AT	A	criteria provided, single submitter	ClinGen:CA10576381
single nucleotide variant	NM_206933.4(USH2A):c.5776+1G>A	USH2A	Pathogenic	1	216246438	216246438	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576384
single nucleotide variant	NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)	USH2A	Pathogenic/Likely pathogenic	1	216498790	216498790	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396625,UniProtKB:O75445#VAR_025765
single nucleotide variant	NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter)	PDE6B	Pathogenic	4	619706	619706	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576636
Deletion	NM_182916.3(TRNT1):c.128_130del (p.Glu43del)	TRNT1	Likely pathogenic	3	3170850	3170852	CAGA	C	criteria provided, single submitter	ClinGen:CA2228520,OMIM:612907.0008