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_014714.4(IFT140):c.1451C>T (p.Thr484Met)	IFT140	Pathogenic/Likely pathogenic	16	1630833	1630833	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7814278,OMIM:614620.0013
single nucleotide variant	NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter)	IFT140	Pathogenic	16	1608057	1608057	G	A	criteria provided, single submitter	ClinGen:CA394200793,OMIM:614620.0016
Duplication	NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)	IFT172	Pathogenic/Likely pathogenic	2	27682266	27682267	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA1580199
single nucleotide variant	NM_016247.4(IMPG2):c.1565C>G (p.Ser522Ter)	IMPG2	Likely pathogenic	3	100963610	100963610	G	C	criteria provided, single submitter	ClinGen:CA353860592
Deletion	NM_182916.3(TRNT1):c.373del (p.Leu125fs)	TRNT1	Pathogenic/Likely pathogenic	3	3182224	3182224	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657264
single nucleotide variant	NM_000283.4(PDE6B):c.1280G>A (p.Trp427Ter)	PDE6B	Pathogenic	4	651162	651162	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA355913773
single nucleotide variant	NM_000283.4(PDE6B):c.1468-2A>G	PDE6B	Likely pathogenic	4	654254	654254	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2794553
single nucleotide variant	NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter)	TULP1	Pathogenic/Likely pathogenic	6	35473606	35473606	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA363779845
single nucleotide variant	NM_178857.6(RP1L1):c.5308C>T (p.Gln1770Ter)	RP1L1	Likely pathogenic	8	10466300	10466300	G	A	criteria provided, single submitter	ClinGen:CA171940955
single nucleotide variant	NM_006445.4(PRPF8):c.5353G>A (p.Val1785Ile)	PRPF8	Likely pathogenic	17	1561843	1561843	C	T	criteria provided, single submitter	ClinGen:CA397572647