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_015629.4(PRPF31):c.1374+654C>G	PRPF31	Pathogenic	19	54633399	54633399	C	G	criteria provided, single submitter	ClinGen:CA253139,OMIM:606419.0009
single nucleotide variant	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	CLRN1	Pathogenic/Likely pathogenic	3	150645894	150645894	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000001,OMIM:606397.0001
single nucleotide variant	NM_174878.3(CLRN1):c.359T>A (p.Met120Lys)	CLRN1	Likely pathogenic	3	150659443	150659443	A	T	criteria provided, single submitter	ClinGen:CA116819,UniProtKB:P58418#VAR_012241,OMIM:606397.0002
single nucleotide variant	NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	CLRN1	Pathogenic	3	150690307	150690307	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116834,OMIM:606397.0006
single nucleotide variant	NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	BBS2	Pathogenic/Likely pathogenic	16	56548486	56548486	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA253233,OMIM:606151.0002
single nucleotide variant	NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	BBS2	Pathogenic/Likely pathogenic	16	56553703	56553703	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA116926,OMIM:606151.0003
single nucleotide variant	NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	BBS2	Pathogenic/Likely pathogenic	16	56548535	56548535	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253235,OMIM:606151.0004
single nucleotide variant	NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	BBS2	Pathogenic/Likely pathogenic	16	56536702	56536702	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253237,OMIM:606151.0005
single nucleotide variant	NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	BBS2	Pathogenic	16	56548399	56548399	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA116932,OMIM:606151.0009
single nucleotide variant	NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	BBS2	Pathogenic	16	56530894	56530894	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA060272,OMIM:606151.0010