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_000350.3(ABCA4):c.4254-1G>C	ABCA4	Pathogenic/Likely pathogenic	1	94496083	94496083	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602431
single nucleotide variant	NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)	ABCA4	Likely pathogenic	1	94495989	94495989	C	A	criteria provided, single submitter	ClinGen:CA10602430
single nucleotide variant	NM_000350.3(ABCA4):c.4352+1G>A	ABCA4	Pathogenic/Likely pathogenic	1	94495983	94495983	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA957648
single nucleotide variant	NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)	ABCA4	Pathogenic	1	94495186	94495186	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602429
single nucleotide variant	NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94495021	94495021	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA957590
Deletion	NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)	ABCA4	Pathogenic	1	94488969	94488969	CT	C	criteria provided, single submitter	ClinGen:CA10602426
single nucleotide variant	NM_000350.3(ABCA4):c.4773+3A>G	ABCA4	Pathogenic	1	94487399	94487399	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA957487
single nucleotide variant	NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	ABCA4	Likely pathogenic	1	94486835	94486835	G	A	criteria provided, single submitter	ClinGen:CA10602425
single nucleotide variant	NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)	ABCA4	Pathogenic/Likely pathogenic	1	94485197	94485197	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA957371
single nucleotide variant	NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94485145	94485145	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602423