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
Duplication	NM_006269.2(RP1):c.5962dup (p.Ile1988fs)	RP1	Pathogenic/Likely pathogenic	8	55542403	55542404	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA4752156
Duplication	NM_006445.4(PRPF8):c.6379dup (p.Tyr2127fs)	PRPF8	Pathogenic	17	1555072	1555073	T	TA	criteria provided, single submitter	ClinGen:CA658798674
Deletion	NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs)	RPGR	Pathogenic	X	38160501	38160505	CAATTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799694
Deletion	NM_017739.4(POMGNT1):c.1335del (p.Met446fs)	POMGNT1	Pathogenic	1	46658058	46658058	TG	T	criteria provided, single submitter	ClinGen:CA658795453
single nucleotide variant	NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter)	HGSNAT	Pathogenic	8	43033252	43033252	C	A	criteria provided, single submitter	ClinGen:CA371116962
single nucleotide variant	NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)	RDH12	Pathogenic/Likely pathogenic	14	68195965	68195965	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390152963
Deletion	NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs)	OFD1	Pathogenic	X	13778702	13778705	GAAGA	G	criteria provided, single submitter	ClinGen:CA658799583
single nucleotide variant	NM_003611.3(OFD1):c.748G>T (p.Glu250Ter)	OFD1	Pathogenic	X	13764992	13764992	G	T	criteria provided, single submitter	ClinGen:CA412338029
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
Deletion	NM_000350.3(ABCA4):c.287del (p.Asn96fs)	ABCA4	Pathogenic	1	94577009	94577009	GT	G	criteria provided, multiple submitters, no conflicts	-