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_003611.3(OFD1):c.549dup (p.Ala184fs)	OFD1	Pathogenic	X	13764466	13764467	G	GT	criteria provided, single submitter	ClinGen:CA16043178
Deletion	NM_006915.3(RP2):c.593_594del (p.Tyr198fs)	RP2	Pathogenic	X	46713400	46713401	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606608
single nucleotide variant	NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)	RPGR	Pathogenic/Likely pathogenic	X	38156564	38156564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606591
Duplication	NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)	RPGR	Pathogenic	X	38144934	38144935	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603725
Deletion	NM_003611.3(OFD1):c.2656del (p.Gln886fs)	OFD1	Pathogenic	X	13785302	13785302	GC	G	criteria provided, single submitter	ClinGen:CA10603409
single nucleotide variant	NM_003611.3(OFD1):c.72C>A (p.Tyr24Ter)	OFD1	Pathogenic	X	13753426	13753426	C	A	criteria provided, single submitter	ClinGen:CA10603408
single nucleotide variant	NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	OFD1	Pathogenic	X	13785314	13785314	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279372
single nucleotide variant	NM_003611.3(OFD1):c.277G>T (p.Val93Phe)	OFD1	Pathogenic	X	13754762	13754762	G	T	criteria provided, single submitter	ClinGen:CA279491
single nucleotide variant	NM_003611.3(OFD1):c.929T>C (p.Phe310Ser)	OFD1	Likely pathogenic	X	13767646	13767646	T	C	criteria provided, single submitter	ClinGen:CA204783
Indel	NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)	RPGR	Pathogenic/Likely pathogenic	X	38169990	38170004	TTCTCAGGTTCTCCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275388