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_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	POMGNT1	Pathogenic	1	46660525	46660525	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA263981
single nucleotide variant	NM_017739.4(POMGNT1):c.879+5G>T	POMGNT1	Likely pathogenic	1	46659941	46659941	C	A	criteria provided, single submitter	ClinGen:CA263991
single nucleotide variant	NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	POMGNT1	Pathogenic	1	46659546	46659546	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223256
Duplication	NM_017739.4(POMGNT1):c.982dup (p.Val328fs)	POMGNT1	Likely pathogenic	1	46659279	46659280	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA263992
single nucleotide variant	NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)	ARL6	Likely pathogenic	3	97503816	97503816	T	C	criteria provided, single submitter	ClinGen:CA280042
single nucleotide variant	NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	CRB1	Pathogenic	1	197390871	197390871	C	T	criteria provided, single submitter	ClinGen:CA1311998
Deletion	NM_201548.5(CERKL):c.420del (p.Ile141fs)	CERKL	Likely pathogenic	2	182468625	182468625	TA	T	criteria provided, single submitter	ClinGen:CA266216,OMIM:608381.0002
single nucleotide variant	NM_201548.5(CERKL):c.598A>T (p.Lys200Ter)	CERKL	Pathogenic	2	182438495	182438495	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266217,OMIM:608381.0003
Deletion	NM_201548.5(CERKL):c.780del (p.Pro261fs)	CERKL	Pathogenic	2	182423333	182423333	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA266219,OMIM:608381.0004
Deletion	NM_000283.4(PDE6B):c.1540del (p.Leu514fs)	PDE6B	Pathogenic/Likely pathogenic	4	654328	654328	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220604