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
single nucleotide variant	NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter)	IMPG2	Pathogenic	3	100947720	100947720	C	A	criteria provided, single submitter	ClinGen:CA10581658
Deletion	NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer)	IMPG2	Pathogenic	3	100962762	100962763	GCA	G	criteria provided, single submitter	ClinGen:CA10581659
Duplication	NM_016247.4(IMPG2):c.68dup (p.Asp23fs)	IMPG2	Pathogenic	3	101039148	101039149	G	GT	criteria provided, single submitter	ClinGen:CA2519574
single nucleotide variant	NM_006017.3(PROM1):c.1579-1G>C	PROM1	Pathogenic	4	16000112	16000112	C	G	criteria provided, single submitter	ClinGen:CA2866714
single nucleotide variant	NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)	CNGA1	Pathogenic/Likely pathogenic	4	47938971	47938971	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2911061
single nucleotide variant	NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)	EYS	Pathogenic	6	65016917	65016917	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581668
Deletion	NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)	EYS	Pathogenic	6	65612025	65612026	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581669
single nucleotide variant	NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	EYS	Pathogenic/Likely pathogenic	6	66112400	66112400	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3877854
single nucleotide variant	NM_006269.2(RP1):c.121T>C (p.Tyr41His)	RP1	Likely pathogenic	8	55533647	55533647	T	C	criteria provided, single submitter	ClinGen:CA4751085
single nucleotide variant	NM_006269.2(RP1):c.539T>G (p.Phe180Cys)	RP1	Pathogenic	8	55534065	55534065	T	G	criteria provided, single submitter	ClinGen:CA4751195