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_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	ABCA4	Pathogenic	1	94506923	94506923	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA227113,UniProtKB:P78363#VAR_008438,OMIM:601691.0037
single nucleotide variant	NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)	TULP1	Pathogenic	6	35471540	35471540	G	A	criteria provided, single submitter	ClinGen:CA259774,UniProtKB:O00294#VAR_065501,OMIM:602280.0011
single nucleotide variant	NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)	TULP1	Pathogenic	6	35473528	35473528	C	A	criteria provided, single submitter	ClinGen:CA259775,UniProtKB:O00294#VAR_065500,OMIM:602280.0012
single nucleotide variant	NM_031885.5(BBS2):c.472-2A>G	BBS2	Pathogenic	16	56544835	56544835	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA259829,OMIM:606151.0018
single nucleotide variant	NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu)	CLRN1	Pathogenic	3	150690404	150690404	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129342,UniProtKB:P58418#VAR_066673,OMIM:606397.0010
single nucleotide variant	NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)	PRPF8	Pathogenic	17	1554174	1554174	C	G	criteria provided, single submitter	OMIM:607300.0007
single nucleotide variant	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS	Pathogenic	1	26764719	26764719	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259894,UniProtKB:Q86SQ9#VAR_065356,OMIM:608172.0001
single nucleotide variant	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Pathogenic/Likely pathogenic	1	216064540	216064540	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA259896,OMIM:608400.0013
Duplication	NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)	USH2A	Pathogenic	1	216019330	216019331	C	CA	criteria provided, single submitter	ClinGen:CA259898,OMIM:608400.0015
single nucleotide variant	NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)	SPATA7	Pathogenic/Likely pathogenic	14	88883069	88883069	C	T	criteria provided, multiple submitters, no conflicts	OMIM:609868.0007,ClinGen:CA259907