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_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.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.1814C>G (p.Ser605Ter)	BBS2	Pathogenic/Likely pathogenic	16	56530975	56530975	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_031885.5(BBS2):c.563del (p.Ile188fs)	BBS2	Pathogenic/Likely pathogenic	16	56543918	56543918	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.717+2T>G	BBS2	Pathogenic/Likely pathogenic	16	56540030	56540030	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_031885.5(BBS2):c.941-1G>T	BBS2	Pathogenic/Likely pathogenic	16	56536369	56536369	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)	BBS2	Pathogenic/Likely pathogenic	16	56530879	56530880	CAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del)	NR2E3	Pathogenic/Likely pathogenic	15	72103893	72103901	CCTGCAACGG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)	HGSNAT	Pathogenic/Likely pathogenic	8	43037306	43037306	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)	HGSNAT	Pathogenic/Likely pathogenic	8	43033312	43033312	G	A	criteria provided, multiple submitters, no conflicts	-