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
Deletion	NM_001242957.3(MAK):c.170_171del (p.Leu57fs)	MAK	Pathogenic	6	10818190	10818191	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605494
single nucleotide variant	NM_016247.4(IMPG2):c.829-1G>T	IMPG2	Pathogenic/Likely pathogenic	3	100988418	100988418	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2519355
single nucleotide variant	NM_001297.5(CNGB1):c.2128C>T (p.Gln710Ter)	CNGB1	Pathogenic	16	57951210	57951210	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605660
Indel	NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)	CRB1	Pathogenic	1	197313557	197313558	GC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605691
single nucleotide variant	NM_001029883.3(PCARE):c.1828C>T (p.Gln610Ter)	PCARE	Pathogenic	2	29295300	29295300	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606216
Deletion	NM_206933.4(USH2A):c.3086del (p.Gly1029fs)	USH2A	Pathogenic	1	216390800	216390800	GC	G	criteria provided, single submitter	ClinGen:CA10606297
single nucleotide variant	NM_001029883.3(PCARE):c.2506G>T (p.Glu836Ter)	PCARE	Pathogenic	2	29294622	29294622	C	A	criteria provided, single submitter	ClinGen:CA10606389
single nucleotide variant	NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	ABCA4	Pathogenic	1	94509026	94509026	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA958052,UniProtKB:P78363#VAR_012554
Deletion	NM_000350.3(ABCA4):c.564del (p.Glu189fs)	ABCA4	Pathogenic/Likely pathogenic	1	94568577	94568577	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606407
Deletion	NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)	EYS	Pathogenic/Likely pathogenic	6	64430740	64430741	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606408