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_003611.3(OFD1):c.1543-2A>C	OFD1	Pathogenic	X	13776454	13776454	A	C	criteria provided, single submitter	ClinGen:CA222226
Duplication	NM_003611.3(OFD1):c.458_459dup (p.Lys154fs)	OFD1	Pathogenic	X	13762578	13762579	G	GCT	criteria provided, single submitter	ClinGen:CA222227
single nucleotide variant	NM_006269.2(RP1):c.5019T>G (p.Tyr1673Ter)	RP1	Pathogenic	8	55541461	55541461	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA267205
Deletion	NM_006915.3(RP2):c.631del (p.Arg211fs)	RP2	Pathogenic	X	46713439	46713439	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222984
single nucleotide variant	NM_015629.4(PRPF31):c.615C>A (p.Tyr205Ter)	PRPF31	Pathogenic	19	54627215	54627215	C	A	criteria provided, single submitter	ClinGen:CA223231
single nucleotide variant	NM_152419.3(HGSNAT):c.1250+1G>A	HGSNAT	Pathogenic/Likely pathogenic	8	43046739	43046739	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224186
single nucleotide variant	NM_152419.3(HGSNAT):c.1464+1G>A	HGSNAT	Pathogenic/Likely pathogenic	8	43048987	43048987	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224187
single nucleotide variant	NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)	USH2A	Pathogenic	1	216144062	216144062	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224398
single nucleotide variant	NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)	IFT172	Pathogenic	2	27667370	27667370	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA149722,UniProtKB:Q9UG01#VAR_070961,OMIM:607386.0001
single nucleotide variant	NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	IFT172	Pathogenic/Likely pathogenic	2	27670411	27670411	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA149724,UniProtKB:Q9UG01#VAR_070960,OMIM:607386.0003