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.2915C>A (p.Thr972Asn)	ABCA4	Pathogenic/Likely pathogenic	1	94512478	94512478	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227051,UniProtKB:P78363#VAR_012548
single nucleotide variant	NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)	ABCA4	Pathogenic/Likely pathogenic	1	94512481	94512481	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227050,UniProtKB:P78363#VAR_012547
single nucleotide variant	NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp)	ABCA4	Likely pathogenic	1	94512500	94512500	T	C	criteria provided, single submitter	ClinGen:CA227048
single nucleotide variant	NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile)	ABCA4	Likely pathogenic	1	94512517	94512517	G	A	criteria provided, single submitter	ClinGen:CA227044,UniProtKB:P78363#VAR_012546
single nucleotide variant	NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)	ABCA4	Likely pathogenic	1	94512523	94512523	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227043,UniProtKB:P78363#VAR_008429
single nucleotide variant	NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	ABCA4	Pathogenic/Likely pathogenic	1	94577010	94577010	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA227042,UniProtKB:P78363#VAR_008403
single nucleotide variant	NM_000350.3(ABCA4):c.286A>C (p.Asn96His)	ABCA4	Pathogenic/Likely pathogenic	1	94577010	94577010	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227041,UniProtKB:P78363#VAR_008404
single nucleotide variant	NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala)	ABCA4	Likely pathogenic	1	94512589	94512589	A	G	criteria provided, single submitter	ClinGen:CA227032,UniProtKB:P78363#VAR_012544
single nucleotide variant	NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu)	ABCA4	Pathogenic	1	94517225	94517225	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227018,UniProtKB:P78363#VAR_012541
single nucleotide variant	NM_000350.3(ABCA4):c.2587+1G>A	ABCA4	Pathogenic	1	94520666	94520666	C	T	criteria provided, single submitter	ClinGen:CA227017