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.4318T>G (p.Phe1440Val)	ABCA4	Likely pathogenic	1	94496018	94496018	A	C	criteria provided, single submitter	ClinGen:CA227183,UniProtKB:P78363#VAR_012573
single nucleotide variant	NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)	ABCA4	Pathogenic	1	94496020	94496020	C	T	criteria provided, single submitter	ClinGen:CA227182,UniProtKB:P78363#VAR_008450
single nucleotide variant	NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)	ABCA4	Pathogenic/Likely pathogenic	1	94574147	94574147	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227179
single nucleotide variant	NM_000350.3(ABCA4):c.4253+5G>T	ABCA4	Pathogenic	1	94496547	94496547	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227174
single nucleotide variant	NM_000350.3(ABCA4):c.4253+4C>T	ABCA4	Pathogenic/Likely pathogenic	1	94496548	94496548	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227173
single nucleotide variant	NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	ABCA4	Pathogenic	1	94496571	94496571	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227169
single nucleotide variant	NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu)	ABCA4	Pathogenic	1	94496582	94496582	C	A	criteria provided, single submitter	ClinGen:CA227167,UniProtKB:P78363#VAR_008445
single nucleotide variant	NM_000350.3(ABCA4):c.4216C>T (p.His1406Tyr)	ABCA4	Pathogenic	1	94496589	94496589	G	A	criteria provided, single submitter	ClinGen:CA227165,UniProtKB:P78363#VAR_008444
single nucleotide variant	NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)	ABCA4	Pathogenic/Likely pathogenic	1	94496610	94496610	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227162,UniProtKB:P78363#VAR_012571
single nucleotide variant	NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro)	ABCA4	Pathogenic	1	94496642	94496642	A	G	criteria provided, single submitter	ClinGen:CA227159,UniProtKB:P78363#VAR_012570