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
Duplication	NM_001029883.3(PCARE):c.1545dup (p.Ser516fs)	PCARE	Pathogenic	2	29295582	29295583	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795701
single nucleotide variant	NM_001029883.3(PCARE):c.1828C>T (p.Gln610Ter)	PCARE	Pathogenic	2	29295300	29295300	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606216
Deletion	NM_001029883.3(PCARE):c.2298del (p.Arg767fs)	PCARE	Pathogenic/Likely pathogenic	2	29294830	29294830	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001029883.3(PCARE):c.2393G>A (p.Trp798Ter)	PCARE	Likely pathogenic	2	29294735	29294735	C	T	criteria provided, single submitter	ClinGen:CA1592212
single nucleotide variant	NM_001029883.3(PCARE):c.2506G>T (p.Glu836Ter)	PCARE	Pathogenic	2	29294622	29294622	C	A	criteria provided, single submitter	ClinGen:CA10606389
Deletion	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	PCARE	Pathogenic	2	29294360	29294372	GTCCAGGGCTGGCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA251390,OMIM:613425.0005
Insertion	NM_001029883.3(PCARE):c.2920_2921insC (p.Glu974fs)	PCARE	Pathogenic	2	29294207	29294208	T	TG	criteria provided, single submitter	ClinGen:CA658795700
single nucleotide variant	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE	Pathogenic/Likely pathogenic	2	29294126	29294126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1592053
single nucleotide variant	NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)	IFT172	Pathogenic/Likely pathogenic	2	27708298	27708298	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA204566
single nucleotide variant	NM_015662.3(IFT172):c.811C>T (p.Arg271Ter)	IFT172	Pathogenic	2	27702991	27702991	G	A	criteria provided, single submitter	-