網膜色素変性症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_201548.5(CERKL):c.239-2A>G	CERKL	Pathogenic	2	182468808	182468808	T	C	criteria provided, single submitter	ClinGen:CA2010884
single nucleotide variant	NM_000283.4(PDE6B):c.1832+1G>T	PDE6B	Pathogenic	4	656408	656408	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355917651
single nucleotide variant	NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)	BEST1	Likely pathogenic	11	61724906	61724906	C	G	criteria provided, single submitter	ClinGen:CA380838768
single nucleotide variant	NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro)	CRB1	Likely pathogenic	1	197396844	197396844	T	C	criteria provided, single submitter	ClinGen:CA344037110
single nucleotide variant	NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg)	ABCA4	Pathogenic	1	94528251	94528251	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341279593
single nucleotide variant	NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)	RPE65	Likely pathogenic	1	68906623	68906623	C	T	criteria provided, single submitter	ClinGen:CA340747108
Deletion	NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del	IFT140	Pathogenic	16	1652593	1657268	na	na	criteria provided, single submitter	-
Duplication	NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs)	IFT140	Pathogenic	16	1561094	1561095	A	AGTAG	criteria provided, single submitter	ClinGen:CA658798458
Duplication	NM_014714.4(IFT140):c.3454-488_4182+2588dup	IFT140	Pathogenic	16	1565628	1565629	C	CCTCAAGAAATCCTCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTCAGAATTCTCTATCTGATGAGAACAACCTTGAAGAATACAGGCAAAATAAATACATTTCAGATTAACGAAAAGTAAGAAAATTCATCATCAGGAGATCTGAACTAGAAGAAATGTTAAAGGGAGCTCAGGCTGAAGAGGAGTGATACCACATGCAAATCGGAATCATAGGGAAGAAGTAAGAACACCAGAAATGACGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCCCCTAAAAATACAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAGGGTAGAGGTTGTGGTGAGCTGAGGTTTGTTGCCCACTCCAGCCTGGGCTACAAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAGAAATGGATGGTAAATATGTAGGTAAATGTAAAAGACTATTTCTTTCCTTTTAATTTCTTCAAAATACATATGACTGTTGAAAGCAACAATTATAACACTATACTGTGTTTATAATACATGTACATGTTACACATACGACAAATACAGGTGGGGACACGGGTGGGAAATGGACCTACCTGCTAACTCTAGTGTGGTAAGTATGTTTATGGTAATCTCCAGGGCAAACACTAGAAATACAATGCAAAGAGGAGTAGAGATAAAAAGCTGATAGCTAAAATGAAATTATAAAAAATAGTCCACTAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTATCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCGACAGAGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATCAACTAAAAAGAAGGCAGGAAAAAAGGTTTAAAGTAACAATAATAAAAACTGGTAGAAAAAGTTGACTGGTAGAAAACTGACATGAAAAAGATGGATGGGATTACCATCAGAGTGAGACACTGCAGAAGGAAAGCTGGTAAACTTGAAGCAACAGAAATGGCAAATCCCTAAAATGAAAAACAGAAAAAGTCCTTGGGGGAGAAAAGAAGAGCATCAGTTGAGCTAGGGGATGGTACTGTATATACAAGTCATTGGAATTTCAGAAGCAGAGGAAAAAAGGAATAGAAGGGAACTTCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTGGAGGCGGGTGGATCACTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAAATGGTGAAACCCCATCTCTACAGGCATGCTGATGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAGTACAATAATAAGAAAACCCAATAAAATGATGAGAAGAGACTTGAAGCCTTCACAGAAGGTGTGTAAATGGATAATAAGCACATGAGAAGGAGCTGCACATCACTACTCATCCAGAAAATGTGAATTTAAACCTCAGCAAGGTACTGTTCACCCCCTAGGATGGCTACAGTTCGAAAGAATGATCAAATGTTGGTGGGGATGAGGAAAACGCTAGAACACTGCGGCTGAATAAGTGATTAGCTGGTCACTTTAAAGTGACTACACGCTGTCTCTAAAATTAAAAAATAAGCGACTAAAAAATGGAACACCATTTTCTTTTTTTGTGAAAATCCCTGAAAAAGAAATCGTGGTTATTCAGACTCGGGTACATGCAGACATTTCTTCACAAATAAAGTAAGTCTGTCGCTTTCCTGCGACACTGCTAGTAACAGCCAGTAACAGCGTGAGACTGTTACTTTTTGCTACCGACAGATTTTTTTTTTCTTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCAGATCTCACTGCAGCCTCAACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAGCAGCTGGGACCCCAGGTGTGAGCCACCATGCCTGGCTAATTTTTCCCCTTTTTGTAGAGATGGGGTTTCACCATGTCGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGTCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCGCCACACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAGCTCTCCGGAATGGCAGGAGGAAACTTTCTATGAAGTTAAATTCATTAATTCCTTAATTTGTTCATTCATAAATTAACTCATCCATGTAACATTCTTACTGATCACTTGAATGCTGGGTCCTATGCTTGGACTGAAGACCAAAGACTTCCGACCCCTAGTTCCTGCTCTATGGAACAGTCCAGAGGGGGCTAGAAACCTCTGCACAAAGCGTGACCCAGAGGGGATGTGGTGCATGTGGACAGGGTACACGGAGAGGCGCACGGCACCCCTTGCCCAAGGCCGCTGGGAAGAACCCTCCAAGCAGAGAGGCTGCCCGCACACAGGCTGCGTGTGTGACCTGGCGTGAGGGTCTGTGGCAGAGCAGGGTGTGTGGCCTGTGAGCTGGGGTGACACCAGGGAGGTGAGCCTGCTGGAACACAACATGGTCCAGGGCAGGTGACTGGAGCCGTGTGGAGCTCAGGCTCCCATGTCAGGAGGGTCCAGGGCCCATCTGGCCACCCACTGACTCGGCCATTCCAGACAGGCGCCTGGCCTGCCCTCTGACCCCTGGCCCATAGAAGGTTGCCCACCCTGGCCCTCACACGTCGTCTCCCCTCCACCCACGTCCTGTGCTATCCCTGATGACCAGCTGCTATCGATTCTCCTCCGCTCCTGCCCTGTGGCCTCAGCTCAGCAGACATCTGTGAGACGCTGATACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCCCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTCAGGCAAGCAGGGGCTGGGCCGGGACAAGCACAAGGGACCCCGAGCAGGAGCTCTCACAAGAAGAGTGGCTCAGGGCTGCCCGGTAGAGAGAGATCTTAGTGGTTGTGCTCTTCCTGGCCAGAAAGGCTCAGCCCTAGCTTGGGGTCATCACGAAGGCAAATGGAGATGCGTGCAGGGGGCCCGCAGCCTAACTGCCTGTGAGGTAGCCGCGGGCTGGGGCCGGGAGAGGCTCACCTTCAGCTTGTTGCCGGCCTGCGTGTACTTCTTGGTGGCCAGGTGGTAGCTGCCCTGGCGCATGCAGCAGTCTGCTATCTGCTCCAGCAGCTCCCGCCGCGACTCCTCAGGCAGGTCCGAGGAGTCCTTGGCCACGGTCATCTTTTCCGCCATCTCCTCGGTGATGCTCATGTTCTGCCCCAGGCACAGCTGCAGGGCTTCCTGATACTGCAAAGGTGCAGAAATGGGACGGGGCTGCCGAGGGGGCCGGGAACTGAAGTGCGCCCCTCATCTGCCACCGCTTCAGAGGAAACCAGGCCCCTCGGCTCAGCGGCGGCTTCTGTCTAGCTGGGGTGGGTATGGAGGGGACAAGGATGTCTCCCCTGCCTCACCAACCTACAATCATTCACGTTACTTTCTCACGCTGTTAACATTCCAGAATGGAACGAAGGAAACAATAGTCTCAAGTGATATATGCTCAAGAGAATATTACGTTTGGGAGAAAAGGAAATTGGTAATTTTCTTCTATAATTCTGAATTTTTAAAGTTAAATTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAGTCACGGCAGCCTCCACCTCCCCAGGGTCAGGTGATCTTCCTACCTCAGTTTTTGTATTTTCAGTAGAGACGGGGTTTTGCAATGTTGCCCAGGCTGGTCTTGAACTCCTGGG	criteria provided, single submitter	-
Indel	NM_014714.4(IFT140):c.3454-1003_4040+737delinsC	IFT140	Pathogenic	16	1569145	1571812	ACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCCCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTCAGGCAAGCAGGGGCTGGGCCGGGACAAGCACAAGGGACCCCGAGCAGGAGCTCTCACAAGAAGAGTGGCTCAGGGCTGCCCGGTAGAGAGAGATCTTAGTGGTTGTGCTCTTCCTGGCCAGAAAGGCTCAGCCCTAGCTTGGGGTCATCACGAAGGCAAATGGAGATGCGTGCAGGGGGCCCGCAGCCTAACTGCCTGTGAGGTAGCCGCGGGCTGGGGCCGGGAGAGGCTCACCTTCAGCTTGTTGCCGGCCTGCGTGTACTTCTTGGTGGCCAGGTGGTAGCTGCCCTGGCGCATGCAGCAGTCTGCTATCTGCTCCAGCAGCTCCCGCCGCGACTCCTCAGGCAGGTCCGAGGAGTCCTTGGCCACGGTCATCTTTTCCGCCATCTCCTCGGTGATGCTCATGTTCTGCCCCAGGCACAGCTGCAGGGCTTCCTGATACTGCAAAGGTGCAGAAATGGGACGGGGCTGCCGAGGGGGCCGGGAACTGAAGTGCGCCCCTCATCTGCCACCGCTTCAGAGGAAACCAGGCCCCTCGGCTCAGCGGCGGCTTCTGTCTAGCTGGGGTGGGTATGGAGGGGACAAGGATGTCTCCCCTGCCTCACCAACCTACAATCATTCACGTTACTTTCTCACGCTGTTAACATTCCAGAATGGAACGAAGGAAACAATAGTCTCAAGTGATATATGCTCAAGAGAATATTACGTTTGGGAGAAAAGGAAATTGGTAATTTTCTTCTATAATTCTGAATTTTTAAAGTTAAATTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAGTCACGGCAGCCTCCACCTCCCCAGGGTCAGGTGATCTTCCTACCTCAGTTTTTGTATTTTCAGTAGAGACGGGGTTTTGCAATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTGCAGGCACAAGCCACCGTGCCGGCCTGATTTTCCTAACATTTTAAGAAATATATATATTTTTTTCTGAGGTGGGGTTTTGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTACCAAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCGGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCTCCCTGTTGGTCAGGCTGGGCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCCTCATTTTAAGAAAAATTTTACATTCTTCACTTGAGAATATGTCTTAGGCCGGGCATGTTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGTGAGAGGATCACTTGGGCCTA	G	criteria provided, single submitter	ClinGen:CA658798459