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
Duplication	NM_174878.3(CLRN1):c.502dup (p.Ile168fs)	CLRN1	Pathogenic/Likely pathogenic	3	150645919	150645920	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA199085
Indel	NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)	CLRN1	Pathogenic/Likely pathogenic	3	150690344	150690347	CCTG	ATTGGACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA199044
Deletion	NM_206933.4(USH2A):c.1214del (p.Asn405fs)	USH2A	Pathogenic	1	216497624	216497624	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274501
single nucleotide variant	NM_018418.5(SPATA7):c.94+2T>C	SPATA7	Likely pathogenic	14	88857801	88857801	T	C	criteria provided, single submitter	ClinGen:CA274500
single nucleotide variant	NM_006017.3(PROM1):c.2077-521A>G	PROM1	Pathogenic/Likely pathogenic	4	15989860	15989860	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA203986
single nucleotide variant	NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)	SPATA7	Pathogenic/Likely pathogenic	14	88883104	88883104	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA235914
single nucleotide variant	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Pathogenic/Likely pathogenic	15	72103821	72103821	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA235931,OMIM:604485.0001
single nucleotide variant	NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)	NR2E3	Pathogenic/Likely pathogenic	15	72104318	72104318	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA235932
single nucleotide variant	NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)	IMPG2	Likely pathogenic	3	100962901	100962901	C	T	criteria provided, single submitter	ClinGen:CA236194
single nucleotide variant	NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)	IMPG2	Pathogenic	3	101010343	101010343	A	C	criteria provided, single submitter	ClinGen:CA236196