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_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr)	PRPF8	Likely pathogenic	17	1554203	1554203	G	T	criteria provided, single submitter	ClinGen:CA252743,UniProtKB:Q6P2Q9#VAR_022626,OMIM:607300.0004
Duplication	NM_006445.4(PRPF8):c.6379dup (p.Tyr2127fs)	PRPF8	Pathogenic	17	1555072	1555073	T	TA	criteria provided, single submitter	ClinGen:CA658798674
single nucleotide variant	NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)	PRPF8	Pathogenic/Likely pathogenic	17	1558827	1558827	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs)	IFT140	Pathogenic	16	1561094	1561095	A	AGTAG	criteria provided, single submitter	ClinGen:CA658798458
single nucleotide variant	NM_006445.4(PRPF8):c.5353G>A (p.Val1785Ile)	PRPF8	Likely pathogenic	17	1561843	1561843	C	T	criteria provided, single submitter	ClinGen:CA397572647
single nucleotide variant	NM_006445.4(PRPF8):c.4733G>A (p.Arg1578Gln)	PRPF8	Likely pathogenic	17	1563778	1563778	C	T	criteria provided, single submitter	ClinGen:CA16620336
single nucleotide variant	NM_006445.4(PRPF8):c.3890C>A (p.Thr1297Lys)	PRPF8	Likely pathogenic	17	1565332	1565332	G	T	criteria provided, single submitter	ClinGen:CA397579112
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
single nucleotide variant	NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter)	IFT140	Pathogenic	16	1569931	1569931	G	A	criteria provided, single submitter	ClinGen:CA202182