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_031885.5(BBS2):c.563del (p.Ile188fs)	BBS2	Pathogenic/Likely pathogenic	16	56543918	56543918	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_031885.5(BBS2):c.55del (p.Val19fs)	BBS2	Likely pathogenic	16	56553720	56553720	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)	BBS2	Likely pathogenic	16	56519592	56519592	C	A	criteria provided, single submitter	-
Deletion	NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs)	BBS2	Likely pathogenic	16	56519609	56519615	ATTAAGGT	A	criteria provided, single submitter	-
single nucleotide variant	NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	BBS2	Pathogenic/Likely pathogenic	16	56530975	56530975	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)	BBS2	Pathogenic/Likely pathogenic	16	56533779	56533779	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.1081-1G>T	BBS2	Likely pathogenic	16	56535410	56535410	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_031885.5(BBS2):c.534+1G>T	BBS2	Pathogenic/Likely pathogenic	16	56544770	56544770	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.2060-1G>T	BBS2	Likely pathogenic	16	56518780	56518780	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)	BBS2	Likely pathogenic	16	56519523	56519523	G	A	criteria provided, single submitter	-