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_152443.3(RDH12):c.184C>T (p.Arg62Ter)	RDH12	Pathogenic	14	68191305	68191305	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252081,OMIM:608830.0005
single nucleotide variant	NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)	RDH12	Pathogenic	14	68192803	68192803	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252083,OMIM:608830.0006
single nucleotide variant	NM_152443.3(RDH12):c.451C>G (p.His151Asp)	RDH12	Pathogenic	14	68193700	68193700	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252087,UniProtKB:Q96NR8#VAR_020861,OMIM:608830.0009
single nucleotide variant	NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	RDH12	Pathogenic/Likely pathogenic	14	68191923	68191923	C	A	criteria provided, multiple submitters, no conflicts	UniProtKB:Q96NR8#VAR_020860,OMIM:608830.0010,ClinGen:CA252088
single nucleotide variant	NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)	RDH12	Likely pathogenic	14	68191273	68191273	T	A	criteria provided, single submitter	ClinGen:CA252090,UniProtKB:Q96NR8#VAR_020859,OMIM:608830.0012
single nucleotide variant	NM_152443.3(RDH12):c.658+1G>A	RDH12	Pathogenic	14	68193908	68193908	G	A	criteria provided, single submitter	ClinGen:CA252091,OMIM:608830.0013
single nucleotide variant	NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	RDH12	Pathogenic	14	68193713	68193713	C	T	criteria provided, multiple submitters, no conflicts	OMIM:608830.0014,ClinGen:CA252092,UniProtKB:Q96NR8#VAR_064171
single nucleotide variant	NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	RDH12	Pathogenic/Likely pathogenic	14	68192801	68192801	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115315,UniProtKB:Q96NR8#VAR_064169,OMIM:608830.0016
Deletion	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A	Pathogenic	1	216420437	216420437	TC	T	criteria provided, multiple submitters, no conflicts	OMIM:608400.0001,ClinGen:CA252226,ClinVar:560516
Deletion	NM_206933.4(USH2A):c.2898del (p.Thr967fs)	USH2A	Pathogenic	1	216405390	216405390	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252227,OMIM:608400.0002