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.1853G>A (p.Gly618Glu)	ABCA4	Likely pathogenic	1	94528217	94528217	C	T	criteria provided, single submitter	ClinGen:CA226943
single nucleotide variant	NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys)	ABCA4	Likely pathogenic	1	94528167	94528167	G	T	criteria provided, single submitter	ClinGen:CA226948,UniProtKB:P78363#VAR_012526
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
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.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.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.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.298T>C (p.Ser100Pro)	ABCA4	Likely pathogenic	1	94576998	94576998	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227065,UniProtKB:P78363#VAR_012502
single nucleotide variant	NM_000350.3(ABCA4):c.3607+1G>A	ABCA4	Likely pathogenic	1	94505598	94505598	C	T	criteria provided, single submitter	ClinGen:CA227124
single nucleotide variant	NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp)	ABCA4	Likely pathogenic	1	94502811	94502811	T	C	criteria provided, single submitter	ClinGen:CA227130