網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)	ABCA4	Pathogenic	1	94497393	94497393	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)	ABCA4	Likely pathogenic	1	94512498	94512498	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)	PROM1	Pathogenic/Likely pathogenic	4	15989306	15989306	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000283.4(PDE6B):c.1670A>G (p.His557Arg)	PDE6B	Likely pathogenic	4	655978	655978	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)	PRPH2	Likely pathogenic	6	42672279	42672279	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)	BEST1	Likely pathogenic	11	61719373	61719373	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000350.3(ABCA4):c.1240-8G>A	ABCA4	Likely pathogenic	1	94544270	94544270	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_206933.4(USH2A):c.8271T>G (p.Tyr2757Ter)	USH2A	Pathogenic	1	216052393	216052393	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)	HGSNAT	Pathogenic	8	43037323	43037323	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_174878.3(CLRN1):c.433+1G>A	CLRN1	Pathogenic	3	150659368	150659368	C	T	criteria provided, multiple submitters, no conflicts	-