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_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)	SPATA7	Pathogenic	14	88903909	88903909	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339895,OMIM:609868.0003
Duplication	NM_005802.5(TOPORS):c.2474dup (p.Tyr825Ter)	TOPORS	Pathogenic	9	32542048	32542049	G	GT	criteria provided, multiple submitters, no conflicts	OMIM:609507.0001
single nucleotide variant	NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)	ARL6	Pathogenic	3	97506848	97506848	C	T	criteria provided, single submitter	ClinGen:CA252067,OMIM:608845.0001
single nucleotide variant	NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)	ARL6	Pathogenic	3	97510641	97510641	G	C	criteria provided, single submitter	ClinGen:CA115313,UniProtKB:Q9H0F7#VAR_027645,OMIM:608845.0002
single nucleotide variant	NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)	ARL6	Pathogenic	3	97487043	97487043	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:Q9H0F7#VAR_027643,OMIM:608845.0003,ClinGen:CA252069
single nucleotide variant	NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)	ARL6	Pathogenic	3	97487043	97487043	C	G	criteria provided, single submitter	ClinGen:CA252073,UniProtKB:Q9H0F7#VAR_027644,OMIM:608845.0005
single nucleotide variant	NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	RDH12	Pathogenic/Likely pathogenic	14	68195926	68195926	A	G	criteria provided, multiple submitters, no conflicts	OMIM:608830.0001,ClinGen:CA252077,UniProtKB:Q96NR8#VAR_020864
Deletion	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	RDH12	Pathogenic	14	68196054	68196058	CGCCCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA339935,OMIM:608830.0002
single nucleotide variant	NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)	RDH12	Pathogenic	14	68193814	68193814	C	T	criteria provided, single submitter	ClinGen:CA252078,OMIM:608830.0003
single nucleotide variant	NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	RDH12	Pathogenic	14	68191267	68191267	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252080,UniProtKB:Q96NR8#VAR_020858,OMIM:608830.0004