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.3335C>A (p.Thr1112Asn)	ABCA4	Pathogenic	1	94506952	94506952	G	T	criteria provided, single submitter	UniProtKB:P78363#VAR_008437,ClinGen:CA227112
single nucleotide variant	NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)	ABCA4	Pathogenic/Likely pathogenic	1	94508322	94508322	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227110,UniProtKB:P78363#VAR_012564
single nucleotide variant	NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)	ABCA4	Pathogenic	1	94508322	94508322	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227109,UniProtKB:P78363#VAR_012563
single nucleotide variant	NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)	ABCA4	Pathogenic	1	94508342	94508342	C	T	criteria provided, single submitter	ClinGen:CA227107
single nucleotide variant	NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94586570	94586570	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227106,UniProtKB:P78363#VAR_012493
single nucleotide variant	NM_000350.3(ABCA4):c.3295T>C (p.Ser1099Pro)	ABCA4	Pathogenic	1	94508350	94508350	A	G	criteria provided, single submitter	ClinGen:CA227104
single nucleotide variant	NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)	ABCA4	Pathogenic/Likely pathogenic	1	94508384	94508384	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227098,UniProtKB:P78363#VAR_012559
single nucleotide variant	NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	ABCA4	Pathogenic	1	94508386	94508386	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227097,UniProtKB:P78363#VAR_008436
single nucleotide variant	NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)	ABCA4	Pathogenic	1	94508433	94508433	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227093,UniProtKB:P78363#VAR_008434
single nucleotide variant	NM_000350.3(ABCA4):c.3191-2A>G	ABCA4	Pathogenic	1	94508456	94508456	T	C	criteria provided, single submitter	ClinGen:CA227090