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_000350.3(ABCA4):c.2713del (p.Glu905fs)	ABCA4	Pathogenic/Likely pathogenic	1	94514454	94514454	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353614
Indel	NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)	PDE6B	Pathogenic/Likely pathogenic	4	657561	657607	CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA	TCTGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA090985
Duplication	NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)	EYS	Pathogenic/Likely pathogenic	6	64430648	64430649	A	ACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA358560
single nucleotide variant	NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter)	TOPORS	Pathogenic/Likely pathogenic	9	32541984	32541984	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353607
single nucleotide variant	NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)	PRPF31	Pathogenic	19	54631726	54631726	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353609
Deletion	NM_001379270.1(CNGA1):c.253del (p.Leu85fs)	CNGA1	Pathogenic	4	47951884	47951884	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2911335,OMIM:123825.0006,OMIM:123825.0009
Deletion	NM_006269.2(RP1):c.4196del (p.Cys1399fs)	RP1	Pathogenic/Likely pathogenic	8	55540638	55540638	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4751816
Deletion	NM_014714.4(IFT140):c.1167del (p.Lys390fs)	IFT140	Likely pathogenic	16	1634410	1634410	TC	T	criteria provided, single submitter	ClinGen:CA645293895
Deletion	NM_000350.3(ABCA4):c.6148-698_6670del	ABCA4	Likely pathogenic	1	94463476	94468246	GAGAGGAGGAGCTGGAAGATCCTCGCCAGGGAGGAGGAGGAGACCTGGAACTGGAGCATGTTGTAGTGCCTCTCCCTCTGCACACTGCCTGGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCAGGTCAGGAAGCAGGTCGTCCTTCGGGGATTTGATCTTCATTGTGACGATATAGCCATCTCCAAATCTAGGGGATGCACACAGTGCAGGACAGGCCTCTGTTAGTGGTTGGGCCTAAGGTAATCCCAAAATAAGGAGTAGACTCATCAGAAATTTTGGGGATTAAGCTCAGCTTGGTGGCTCACACCTGAAATCCCAGCAATTTGGGAGGTAGAGGTGGGAGGATCACTTGAGCTCAGGAATGTAAGATAAGCCTGGGCAACAAGAAAGACCCTGTCTCTACGAAAATTAGCAGGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCATAGGAGGTCAAGGCTACAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAACCGAAAAACAAGAAACAAACCCAAACAAGAACAACAAAAAAAGAAATACTGGGGATTAAAGGCCCATACCATAGACCTGTGTACATACTGAAAACTAGGAGAGAAAAACCATGGTAGTCCCTGGAGAAATCATTTGATACCAGTTTTTAGAGATCAAATGTCTGCATGGTAATGTGGGATAATCGTACTTGCTGAAGTCAAAGGTAGTTTTATTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTGAGACAGTCTCACCGTTGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCAC	G	criteria provided, single submitter	ClinGen:CA10576058
single nucleotide variant	NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)	KLHL7	Likely pathogenic	7	23207535	23207535	C	T	criteria provided, single submitter	ClinGen:CA4186579,OMIM:611119.0006