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.122G>A (p.Trp41Ter)	ABCA4	Pathogenic	1	94578567	94578567	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226874
single nucleotide variant	NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter)	ABCA4	Pathogenic	1	94544185	94544185	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226882
single nucleotide variant	NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94544167	94544167	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226886,UniProtKB:P78363#VAR_008412
Deletion	NM_000350.3(ABCA4):c.1344del (p.Met448fs)	ABCA4	Pathogenic	1	94544158	94544158	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226888
Deletion	NM_000350.3(ABCA4):c.1390_1391del (p.Leu464fs)	ABCA4	Pathogenic	1	94543409	94543410	CAA	C	criteria provided, single submitter	ClinGen:CA226891
single nucleotide variant	NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94528819	94528819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226904,UniProtKB:P78363#VAR_012519
single nucleotide variant	NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)	ABCA4	Pathogenic/Likely pathogenic	1	94577135	94577135	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226908,UniProtKB:P78363#VAR_008400
single nucleotide variant	NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94528780	94528780	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226915,UniProtKB:P78363#VAR_012521
single nucleotide variant	NM_000350.3(ABCA4):c.1659C>G (p.Phe553Leu)	ABCA4	Pathogenic	1	94528769	94528769	G	C	criteria provided, single submitter	ClinGen:CA226916
single nucleotide variant	NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94528713	94528713	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226919,UniProtKB:P78363#VAR_008416