網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1917C>A (p.Tyr639Ter)	ABCA4	Pathogenic	1	94528153	94528153	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226952
single nucleotide variant	NM_000350.3(ABCA4):c.1908G>T (p.Gln636His)	ABCA4	Pathogenic	1	94528162	94528162	C	A	criteria provided, single submitter	ClinGen:CA226951,UniProtKB:P78363#VAR_012527
single nucleotide variant	NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94528167	94528167	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226949
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.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.1822T>C (p.Phe608Leu)	ABCA4	Likely pathogenic	1	94528248	94528248	A	G	criteria provided, single submitter	ClinGen:CA226938
single nucleotide variant	NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)	ABCA4	Pathogenic/Likely pathogenic	1	94528265	94528265	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226933,UniProtKB:P78363#VAR_012523
single nucleotide variant	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4	Pathogenic/Likely pathogenic	1	94528266	94528266	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226932,UniProtKB:P78363#VAR_008418
single nucleotide variant	NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	ABCA4	Pathogenic/Likely pathogenic	1	94577117	94577117	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226931,UniProtKB:P78363#VAR_008492
single nucleotide variant	NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr)	ABCA4	Likely pathogenic	1	94577118	94577118	C	T	criteria provided, single submitter	ClinGen:CA226928,UniProtKB:P78363#VAR_012497