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_001367823.1(ARHGEF18):c.2560C>T (p.Arg854Ter)	ARHGEF18	Pathogenic	19	7527145	7527145	C	T	criteria provided, single submitter	ClinGen:CA16616862,OMIM:616432.0002
single nucleotide variant	NM_001367823.1(ARHGEF18):c.3196G>T (p.Glu1066Ter)	ARHGEF18	Pathogenic	19	7532286	7532286	G	T	criteria provided, single submitter	ClinGen:CA16616864,OMIM:616432.0003
single nucleotide variant	NM_000539.3(RHO):c.491C>T (p.Ala164Val)	RHO	Pathogenic/Likely pathogenic	3	129249848	129249848	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616904
Deletion	NM_022367.4(SEMA4A):c.1000del (p.Arg334fs)	SEMA4A	Likely pathogenic	1	156132751	156132751	CA	C	criteria provided, single submitter	ClinGen:CA1155245
Insertion	NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)	USH2A	Pathogenic/Likely pathogenic	1	215853632	215853633	T	TAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609675
single nucleotide variant	NM_206933.4(USH2A):c.10741-1G>T	USH2A	Pathogenic	1	215953384	215953384	C	A	criteria provided, single submitter	ClinGen:CA16617054
single nucleotide variant	NM_206933.4(USH2A):c.10571C>A (p.Pro3524His)	USH2A	Likely pathogenic	1	215956094	215956094	G	T	criteria provided, single submitter	ClinGen:CA16617055
single nucleotide variant	NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)	USH2A	Pathogenic	1	216061824	216061824	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1394674
single nucleotide variant	NM_206933.4(USH2A):c.7595-2A>G	USH2A	Likely pathogenic	1	216062398	216062398	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617057
Indel	NM_206933.4(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs)	USH2A	Likely pathogenic	1	216246601	216246601	C	ATGCCAACTTAA	criteria provided, single submitter	ClinGen:CA16617058