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.2041C>T (p.Arg681Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94526212	94526212	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226973
single nucleotide variant	NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter)	ABCA4	Pathogenic	1	94526154	94526154	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226978
single nucleotide variant	NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)	ABCA4	Pathogenic/Likely pathogenic	1	94577082	94577082	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226983,UniProtKB:P78363#VAR_012500
single nucleotide variant	NM_000350.3(ABCA4):c.2160+1G>C	ABCA4	Pathogenic	1	94526092	94526092	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA226984
single nucleotide variant	NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)	ABCA4	Pathogenic	1	94577073	94577073	A	C	criteria provided, single submitter	ClinGen:CA226985,UniProtKB:P78363#VAR_008402
single nucleotide variant	NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)	ABCA4	Pathogenic/Likely pathogenic	1	94522248	94522248	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226986,UniProtKB:P78363#VAR_012532
single nucleotide variant	NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)	ABCA4	Pathogenic	1	94522245	94522245	C	T	criteria provided, single submitter	ClinGen:CA226988,UniProtKB:P78363#VAR_012534
single nucleotide variant	NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)	ABCA4	Pathogenic/Likely pathogenic	1	94522239	94522239	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226990,UniProtKB:P78363#VAR_012535
Deletion	NM_000350.3(ABCA4):c.2385_2400del (p.Ser795fs)	ABCA4	Pathogenic	1	94520854	94520869	CCACCGGAGACAGTAAG	C	criteria provided, single submitter	ClinGen:CA226997
single nucleotide variant	NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro)	ABCA4	Likely pathogenic	1	94520864	94520864	A	G	criteria provided, single submitter	ClinGen:CA226998,UniProtKB:P78363#VAR_012536