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
Insertion	NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)	HGSNAT	Likely pathogenic	8	42995647	42995648	G	GGC	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.851+1G>T	HGSNAT	Likely pathogenic	8	43028887	43028887	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1129-2A>T	HGSNAT	Likely pathogenic	8	43046615	43046615	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)	HGSNAT	Pathogenic	8	43052142	43052142	C	T	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_031885.5(BBS2):c.1911-1G>A	BBS2	Likely pathogenic	16	56519651	56519651	C	T	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	-
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	-
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.565C>T (p.Arg189Ter)	BBS2	Pathogenic	16	56543916	56543916	G	A	criteria provided, multiple submitters, no conflicts	-