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_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro)	ABCA4	Likely pathogenic	1	94497413	94497413	A	G	criteria provided, single submitter	ClinGen:CA16617204
single nucleotide variant	NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr)	ABCA4	Pathogenic/Likely pathogenic	1	94506898	94506898	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617206
single nucleotide variant	NM_000350.3(ABCA4):c.3051-16T>A	ABCA4	Likely pathogenic	1	94509047	94509047	A	T	criteria provided, single submitter	ClinGen:CA16617208
single nucleotide variant	NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro)	ABCA4	Likely pathogenic	1	94522290	94522290	A	G	criteria provided, single submitter	ClinGen:CA16617209
single nucleotide variant	NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly)	ABCA4	Likely pathogenic	1	94522357	94522357	T	C	criteria provided, single submitter	ClinGen:CA16617210
single nucleotide variant	NM_000350.3(ABCA4):c.1958G>A (p.Arg653His)	ABCA4	Pathogenic/Likely pathogenic	1	94526295	94526295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA958377
single nucleotide variant	NM_000350.3(ABCA4):c.478G>T (p.Glu160Ter)	ABCA4	Pathogenic	1	94568663	94568663	C	A	criteria provided, single submitter	ClinGen:CA16617212
single nucleotide variant	NM_000350.3(ABCA4):c.160+5G>C	ABCA4	Likely pathogenic	1	94578524	94578524	C	G	criteria provided, single submitter	ClinGen:CA16617213
Duplication	NM_015662.3(IFT172):c.4290dup (p.Ile1431fs)	IFT172	Likely pathogenic	2	27672181	27672182	T	TG	criteria provided, single submitter	ClinGen:CA16617526
Deletion	NM_000539.3(RHO):c.946del (p.Cys316fs)	RHO	Likely pathogenic	3	129252460	129252460	CT	C	criteria provided, single submitter	ClinGen:CA16617826