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.768G>T (p.Val256=)	ABCA4	Pathogenic/Likely pathogenic	1	94564350	94564350	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227458
single nucleotide variant	NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro)	ABCA4	Pathogenic/Likely pathogenic	1	94564387	94564387	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227451,UniProtKB:P78363#VAR_012510
single nucleotide variant	NM_000350.3(ABCA4):c.71G>A (p.Arg24His)	ABCA4	Pathogenic/Likely pathogenic	1	94578618	94578618	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227449,UniProtKB:P78363#VAR_008399
single nucleotide variant	NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)	ABCA4	Pathogenic	1	94463460	94463460	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA227432,UniProtKB:P78363#VAR_012615
Deletion	NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	ABCA4	Pathogenic	1	94564440	94564452	AGCGCACCGTCTTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227428
single nucleotide variant	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4	Pathogenic/Likely pathogenic	1	94463488	94463488	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227425
single nucleotide variant	NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)	ABCA4	Pathogenic	1	94463537	94463537	G	T	criteria provided, single submitter	ClinGen:CA227422
single nucleotide variant	NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	ABCA4	Pathogenic/Likely pathogenic	1	94564460	94564460	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA227420,UniProtKB:P78363#VAR_012508
single nucleotide variant	NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	ABCA4	Pathogenic	1	94463583	94463583	A	G	criteria provided, single submitter	ClinGen:CA227415
Deletion	NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del)	ABCA4	Pathogenic	1	94463566	94463601	GGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCA	G	criteria provided, single submitter	ClinGen:CA227413