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_031885.5(BBS2):c.1062C>G (p.Asn354Lys)	BBS2	Pathogenic/Likely pathogenic	16	56536247	56536247	G	C	criteria provided, multiple submitters, no conflicts	-
copy number loss	GRCh37/hg19 Xp11.4(chrX:38144822-38164037)	RPGR	Pathogenic	X	38144822	38164037	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)	PDE6B	Pathogenic/Likely pathogenic	4	656007	656007	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)	EYS	Pathogenic/Likely pathogenic	6	64436534	64436534	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004183.4(BEST1):c.1415del (p.Leu472fs)	BEST1	Pathogenic/Likely pathogenic	11	61730041	61730041	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)	SPATA7	Pathogenic/Likely pathogenic	14	88899497	88899498	ATC	A	criteria provided, multiple submitters, no conflicts	OMIM:609868.0010
Deletion	NM_031885.5(BBS2):c.402del (p.Ala136fs)	BBS2	Pathogenic/Likely pathogenic	16	56545140	56545140	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1526A>G (p.Asn509Ser)	POMGNT1	Likely pathogenic	1	46657783	46657783	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro)	CLRN1	Pathogenic	3	150659479	150659479	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94485162	94485162	C	T	criteria provided, multiple submitters, no conflicts	-