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.3141+1G>T	IFT140	Pathogenic	16	1574552	1574552	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7813303
single nucleotide variant	NM_014714.4(IFT140):c.2577+25G>A	IFT140	Pathogenic/Likely pathogenic	16	1576595	1576595	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798460
single nucleotide variant	NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu)	IFT140	Pathogenic	16	1612008	1612008	G	A	criteria provided, single submitter	ClinGen:CA394203209
single nucleotide variant	NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro)	IFT140	Pathogenic	16	1634258	1634258	A	G	criteria provided, single submitter	ClinGen:CA394214506
single nucleotide variant	NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)	IFT140	Pathogenic/Likely pathogenic	16	1642505	1642505	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394220715
single nucleotide variant	NM_201548.5(CERKL):c.677+3A>G	CERKL	Likely pathogenic	2	182430782	182430782	T	C	criteria provided, single submitter	ClinGen:CA658796090
single nucleotide variant	NM_201548.5(CERKL):c.481+2T>G	CERKL	Pathogenic/Likely pathogenic	2	182468562	182468562	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA2010833
single nucleotide variant	NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	RHO	Pathogenic	3	129251570	129251570	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA354470820
Indel	NM_206933.4(USH2A):c.15267_15275delinsC (p.Leu5089fs)	USH2A	Likely pathogenic	1	215807823	215807831	TAAACATTC	G	criteria provided, single submitter	ClinGen:CA658795591
single nucleotide variant	NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)	PRPH2	Pathogenic	6	42672319	42672319	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA364135722