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_003611.3(OFD1):c.710del (p.Lys237fs)	OFD1	Pathogenic	X	13764946	13764946	CA	C	criteria provided, single submitter	ClinGen:CA344036
Duplication	NM_003611.3(OFD1):c.710dup (p.Tyr238fs)	OFD1	Pathogenic	X	13764945	13764946	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA344037
Deletion	NM_003611.3(OFD1):c.839_840del (p.Lys280fs)	OFD1	Pathogenic	X	13767554	13767555	CAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000541.5(SAG):c.577C>T (p.Arg193Ter)	SAG	Pathogenic	2	234237188	234237188	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA130895,OMIM:181031.0002
single nucleotide variant	NM_000541.5(SAG):c.874C>T (p.Arg292Ter)	SAG	Pathogenic	2	234243675	234243675	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA130897,OMIM:181031.0004
single nucleotide variant	NM_000541.5(SAG):c.916G>T (p.Glu306Ter)	SAG	Pathogenic	2	234243717	234243717	G	T	criteria provided, single submitter	ClinGen:CA130899,OMIM:181031.0005
single nucleotide variant	NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)	CLRN1	Pathogenic/Likely pathogenic	3	150690369	150690369	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA142675
Deletion	NM_174878.3(CLRN1):c.301_305del (p.Val101fs)	CLRN1	Pathogenic/Likely pathogenic	3	150659497	150659501	AATGAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA142687
single nucleotide variant	NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)	CLRN1	Pathogenic/Likely pathogenic	3	150659434	150659434	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA142688
Deletion	NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)	USH2A	Pathogenic	1	215960208	215960209	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA262053