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_001031710.3(KLHL7):c.1291del (p.Gly430_Leu431insTer)	KLHL7	Likely pathogenic	7	23207567	23207567	GC	G	criteria provided, single submitter	ClinGen:CA658657666
single nucleotide variant	NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)	DHDDS	Pathogenic	1	26784371	26784371	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339144815,OMIM:608172.0003
single nucleotide variant	NM_205861.3(DHDDS):c.441-24A>G	DHDDS	Likely pathogenic	1	26774026	26774026	A	G	criteria provided, single submitter	ClinGen:CA705345,OMIM:608172.0005
Deletion	NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs)	USH2A	Pathogenic/Likely pathogenic	1	216251449	216251458	TGTTGATAAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683171
single nucleotide variant	NM_001102564.3(IFT43):c.2T>A (p.Met1Lys)	IFT43	Pathogenic	14	76452131	76452131	T	A	criteria provided, single submitter	ClinGen:CA390472786,OMIM:614068.0002
single nucleotide variant	NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg)	IFT43	Likely pathogenic	14	76549813	76549813	T	C	criteria provided, single submitter	ClinGen:CA390474671,OMIM:614068.0003
single nucleotide variant	NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)	USH2A	Pathogenic	1	216260091	216260091	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1395583
single nucleotide variant	NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)	ABCA4	Pathogenic	1	94574256	94574256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA958864
single nucleotide variant	NM_016247.4(IMPG2):c.3472A>T (p.Lys1158Ter)	IMPG2	Pathogenic/Likely pathogenic	3	100948385	100948385	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353847907
single nucleotide variant	NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)	RDH12	Pathogenic/Likely pathogenic	14	68191878	68191878	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390148606