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.1719G>A (p.Met573Ile)	ABCA4	Likely pathogenic	1	94528709	94528709	C	T	criteria provided, single submitter	ClinGen:CA10602447
single nucleotide variant	NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)	ABCA4	Pathogenic	1	94528844	94528844	G	T	criteria provided, single submitter	ClinGen:CA10602448
single nucleotide variant	NM_000350.3(ABCA4):c.1357-2A>G	ABCA4	Pathogenic/Likely pathogenic	1	94543445	94543445	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602449
single nucleotide variant	NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)	ABCA4	Pathogenic	1	94544209	94544209	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602450
single nucleotide variant	NM_000350.3(ABCA4):c.1239+1G>C	ABCA4	Pathogenic	1	94544877	94544877	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA958598
single nucleotide variant	NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)	ABCA4	Pathogenic	1	94546047	94546047	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602451
single nucleotide variant	NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)	ABCA4	Pathogenic	1	94577090	94577090	C	T	criteria provided, single submitter	ClinGen:CA10602454
single nucleotide variant	NM_000350.3(ABCA4):c.160+2T>C	ABCA4	Pathogenic	1	94578527	94578527	A	G	criteria provided, single submitter	ClinGen:CA10602456
single nucleotide variant	NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)	ABCA4	Likely pathogenic	1	94578529	94578529	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602457
single nucleotide variant	NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)	ABCA4	Likely pathogenic	1	94578603	94578603	A	C	criteria provided, single submitter	ClinGen:CA10602458