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_004183.4(BEST1):c.888C>A (p.Asn296Lys)	BEST1	Likely pathogenic	11	61726990	61726990	C	A	criteria provided, single submitter	-
Deletion	NM_206933.4(USH2A):c.15353del (p.Asn5118fs)	USH2A	Likely pathogenic	1	215802322	215802322	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)	ABCA4	Likely pathogenic	1	94467464	94467464	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_006343.3(MERTK):c.2059C>T (p.Arg687Ter)	MERTK	Likely pathogenic	2	112767623	112767623	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004183.4(BEST1):c.874G>C (p.Glu292Gln)	BEST1	Likely pathogenic	11	61726976	61726976	G	C	criteria provided, single submitter	ClinGen:CA380843621
Indel	NM_206933.4(USH2A):c.15267_15275delinsC (p.Leu5089fs)	USH2A	Likely pathogenic	1	215807823	215807831	TAAACATTC	G	criteria provided, single submitter	ClinGen:CA658795591
single nucleotide variant	NM_201548.5(CERKL):c.677+3A>G	CERKL	Likely pathogenic	2	182430782	182430782	T	C	criteria provided, single submitter	ClinGen:CA658796090
single nucleotide variant	NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)	RPE65	Likely pathogenic	1	68906623	68906623	C	T	criteria provided, single submitter	ClinGen:CA340747108
single nucleotide variant	NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro)	CRB1	Likely pathogenic	1	197396844	197396844	T	C	criteria provided, single submitter	ClinGen:CA344037110
single nucleotide variant	NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)	BEST1	Likely pathogenic	11	61724906	61724906	C	G	criteria provided, single submitter	ClinGen:CA380838768