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_001142800.2(EYS):c.9400del (p.Val3134fs)	EYS	Pathogenic/Likely pathogenic	6	64430527	64430527	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604476
Deletion	NM_000350.3(ABCA4):c.6729+5_6729+19del	ABCA4	Pathogenic/Likely pathogenic	1	94463398	94463412	GTGCCCCAGGGCCAAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA501163
single nucleotide variant	NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)	USH2A	Pathogenic	1	215824102	215824102	C	T	criteria provided, single submitter	ClinGen:CA10604605
single nucleotide variant	NM_206933.4(USH2A):c.9390G>A (p.Trp3130Ter)	USH2A	Pathogenic	1	215990519	215990519	C	T	criteria provided, single submitter	ClinGen:CA10604657
Deletion	NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer)	RPE65	Pathogenic	1	68912488	68912489	CAA	C	criteria provided, single submitter	ClinGen:CA10604707
single nucleotide variant	NM_206933.4(USH2A):c.908G>A (p.Arg303His)	USH2A	Pathogenic/Likely pathogenic	1	216498882	216498882	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396646
Deletion	NM_000350.3(ABCA4):c.3139del (p.Glu1047fs)	ABCA4	Pathogenic	1	94508943	94508943	TC	T	criteria provided, single submitter	ClinGen:CA10604841
single nucleotide variant	NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	BBS2	Pathogenic/Likely pathogenic	16	56530925	56530925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8065604
single nucleotide variant	NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)	CRB1	Pathogenic	1	197390140	197390140	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605094
Deletion	NM_206933.4(USH2A):c.1679del (p.Pro560fs)	USH2A	Pathogenic	1	216465678	216465678	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1396426