網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	BBS2	Pathogenic/Likely pathogenic	16	56531672	56531672	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)	BBS2	Pathogenic	16	56531747	56531747	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_031885.5(BBS2):c.918_919dup (p.Cys307fs)	BBS2	Likely pathogenic	16	56536605	56536606	C	CAG	criteria provided, single submitter	-
single nucleotide variant	NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)	BBS2	Pathogenic	16	56536711	56536711	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.717+1G>A	BBS2	Pathogenic/Likely pathogenic	16	56540031	56540031	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)	BBS2	Pathogenic	16	56540049	56540049	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_031885.5(BBS2):c.627_628del (p.Cys210fs)	BBS2	Pathogenic/Likely pathogenic	16	56540121	56540122	CAA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_031885.5(BBS2):c.324_343del (p.Asn108fs)	BBS2	Likely pathogenic	16	56548367	56548386	TCTCTGTAGAACAAATCCGAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_031885.5(BBS2):c.1797+1G>A	BBS2	Likely pathogenic	16	56531654	56531654	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_031885.5(BBS2):c.941-2A>C	BBS2	Pathogenic/Likely pathogenic	16	56536370	56536370	T	G	criteria provided, multiple submitters, no conflicts	-