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_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)	USH2A	Pathogenic	1	216270538	216270538	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1395659
single nucleotide variant	NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	USH2A	Pathogenic/Likely pathogenic	1	215821999	215821999	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1393019
single nucleotide variant	NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)	USH2A	Pathogenic	1	215932085	215932085	G	T	reviewed by expert panel	ClinGen:CA1393780
Deletion	NM_206933.2(USH2A):c.9335_9371+8063del	USH2A	Likely pathogenic	1	216003269	216011368	TTCCCATGCAGGCCAATATGGAATAAGCCCATTACAGCTTATCTCTCCCACTGATTACAACTCAGTATCTGCAAAAATTATATAAAGTAACTACCTGAGGACTCTGAAAAGCTAACAATAAGGCTGATCAGGAGGGGAGACAAAACTTTAAGAATGAATGTTACAGGGTGAGTTTCCCATTTTTTTTCCCCCTCCTTTACTTCCCATCTTTAACCCAAGGGCAGTATCAGTGTGAAACTGTGAACTAGGGAAGCAAAATCCTAGAGAAAGTAAATTTTTTCCGGCTAGAGTATCTAGAACAAAATGCCTTGCAAGCCAGAGAGTATAGGGAAAACCCCCATTTTTGTTTTGTTTTGTCTTCTTTCTGCTGGGCCCTGCTCCGAGGATGATCAGAGCCAAGGAGCTGCACTGCGGCAGCTGTGGCCAAATTGGAATCTAAAGCCCCAACGGGGGGAAAAATCTTTCTGTCCAGAGAAATCAGGAAATGGGGCCTCTATAGTCCAAAGAATGTGGGGGAAGTCCTTGTTATTTTTTTTTCTCGAATTCCTCTTACCTCATTGCCTAAGAACAACTCCAGTTATGCAAATTTGGAGGCAGGCTGGGAGGCAAACATTTCAAAAGAAATCATATCATTCTAGCCAAAAATCCAGGGAAGGAAGTCCAAAGGAGCTGGAAAGATGGGGGACATTTCAGAGAGAAGAAAGCTAGAAGCTAATTTTATGAATGAACGAACGCAAGTCCTGACTCAACTCCAAGCTGCACATTTATGGTTGCCTCACATGCATAGCCTATGCAAGCAGCACAGCGAAGATTTTGAGATCAGAACTATTACATAATTCTACAGCCAAATCCCAAATTAGCCATTGTGCAGACACAGAGTAGTAAAGCAAAGTTTATAGCTTTGTTATGCTACTTTATGAAAAAATAGGAACTGACTGTAGTCACTGGCAAAGGAAAACAGAATTTGGAGTCTGAAGCTAACCAGTTGGTAACCTGCTGAAAAAAGTAAATAAGAACTCTAACTTTCTTCAAAGGATTTTAACAGGAGTCAGATTTTTATAACGTAATATTCAAAATGTGAAGGAATCAATCGAAAAATCACCCAGAATTACACTAAGCAATTGAAAGCTGGAGTGGCTATATTAATATTAGACAAAATAAACTTAAGAACAAGGAAATTATCAGGAAGTAAAAGGGCTTATCACATAATGATACAAGAGCCAGTTTATCAAGACATTAACAATCCTAAACATGTATGCACTTAATAATAAAACATCAAAGTACATGAAGGAAAGACTAATAGATCTGAAGAAGAAATAGATAAAGCCACAATGACATTTGGAGACTTCAACACCATTCTCACAATAACTGATAAAACAAGCAGGCAGAAAATCAGTAAGTATATAGATGATCTGAACACCATTATCACTCAACTTGATCTAATTGACATTTACAAAACACTCTATCTGACAACAACAGACTGTACCTTCTCCTCAAGTGCACATCCATTCACTAAGATAGATCATATTCTGGGCCCTGAAAAAACTGTAACTAATTTAAAAGAATTGGAATTCTAAAATTATGTTCTTAGATCATAATAGAATTAAACTGGAAACTCAGATAGAAACTTATCTGAAAAATCCCCAAATACTTGGAAATTAAACAATACCCTTGTAAATAATCCATGGGTTAAAGAAGTCTCAAGAGAAATTAAAATATATTTTGAATAAATGAAGTGCAATGCAACATTTCAAAATTTGTGAGCTTCATACCGAAGCAGGACTGAGAGAAAAGAAGAAAGGTCTCAAATCAATAATGAAAGTTTTCATCTTTAAGAAACTAGAGAAGCAATAGCAAGGCAAGAGGGAAGAAAACAATAGAGAGCAGAAATCACTGAAATGGAAAATAGAAAACAATGTAGATGATATAGAAAATAAATAAAGCCAAAAATGGTTCTTTGAAAAGATCTACAAAATTGATAAAACTCTAGGCTGAACAGAAAAACGGGGGCACTTACTACCAATATCAGAAATGAAAGAATAAAATCAATTGCAACAAATTGTTGTTTGTAGTACAAACATACTACAAACAACTTCCTGCTAATAAATTTGACAAATTTGATTAAATTAACCTATTTTCTGCACCCACAAGATGACTAAACTCACTGGAGAATAAATTGCCAAATATCATACATTATTAAGGGAATTGAATTCCAAGTTAAAAAACCTTCCATCAAAGAAAAACTCCAGGCAAATATGGGTTTCACTGGTGAATTTTACCAAGATTTAAGAAATAATAACACTTTTGTACAATCTCTTCCACAAAATAGAAAAGAAGGAAATGCTTCCCAAGTTAGTATGAGACCAGAAATTACCATGATACCCAATCCAGGCAAAGGTATTACAAGAAAATCAAACACAGTCCAATATATTTTATGAACACAGATGAACATTTTCTATAAGATAATAGTATATTGCATCCCCCAATATATGAAGAAGAAAATATGTCACAACGAAGTTCTGGTTATCCAGCGAATACAAACTAGTTCAATAATTTAAAATCAGTAAATATAATCGATCATAGTACAAATTTAAAATGTCAAAAAAGCATGTGACAAATTTCCATGTCCATTTATAATGAAAATTGTCAGCAAATTAAAAATAAAAAGTAAGTTCTTCAACGTGATAAAAGGCATGGCCAAAAATTTCATACGTAACATCACATCTAAGGGTAAAAGACTGAAAGTTTTCTTTCAAAGATTGGGAACAAGTCAAGGATATGCTCTTATCACGTTATTAAACTATCCAGTGCAATAAGGCAGGAAAAAGAAATAAAAGACATACTGATTGGAAATGAAAAAAATAAACAGTTTCTCTTTGTAGAAGATCTATATAGACTAGGGAATTACAAAAAAGCTCTTAAGACTTACAAGGAGTTTAGCAAGTTTGCTGGATGTAAGCTCACTATTCCAAAATTAATTGTGTTTCTACACACTAGCAACAATTGGATTTGAATTTGTTTTAAAGAAACAATAATAATAGCACCCCCCAAATAAGTAATTAGGTATAAACTTAATAAAATATGTGCAGTATTTGCATACTGGATTATATAAAACACTGATAAAATAAAGGAAAGAAGATGCAAATAAATGAGCAAGAGTGTGTTCTTGAATCAGAACATTTGATATTGTTAAGATGTCAATTCTCTACCAATTGATCCACAAATTCAATGCAGTTCTAATCAAAATCACATGTTTTGTAGATATCAATGACCTGTTTCTGAAATTTATATGGACAGGCAAAGTAGTGAGAAAGGCCAAAATGATTTTTATAAAGGTCAAAGTTGGAGGACTCATACAATGTGATTTGACAGCTTACTATAGAGCTGTAGTAATCAAGATTGTGCGATATTGGTATAGATATACATATTGATAAATTGAACATAAAAGAGAGTCCAAAAATGGCCTACAAAACGTGTTTAAATTGATTTTTGACAAAAATCTAAAAATATTCAATAAAGAAAAGATAATCTTTCCAAAAATTTTGTTGATACTATTAAATACTTACATGCCAAAAAAAATTAACCTTGACTCATGCCTCAGTGTATACAAAAATTAACACAAAACCAATCATAGACATAAATTCAACATGTAAACATACAAATGTTCTAGGAAATAGACAAGAGAAAGTCTCTGTGACCTTAACTCAGGCAAAAAGTTCTTAGATAAAATACCAGATGCACAAACTGTCAAGGAAAAAGTAACAAATCTAACTCTCTTGGAAAGTTAAAACTCTTTCTCTTAAAAACACACAAATAAGATAATTGAAAACAAATCATAAGGTAGAGAAGAAATATCTGTAAATCACATATGTGACAAAAACTCAAATCCAAAATATATTTAAAAAATTTTCAAAACTCAAAAAATAAGAAAACAAAGAATCTAATTAAGAAATTTGCAAAAGATTTGGAGATACCATTTCCCAGAGTAAACAAATGCCAAAGTGCATGCAAAAAGCAATTGCAAAGCTTATCAGTATCATTAGTCATTAGGGAAAATGTAATTTAAGACCATAATAACACACCACAAACATCTATTAAAATGACTATTTAAAAAATAAGAGGAAAACACCTCATAGTATCTCATGTTCTAGCAAAAATGTAGAGCAACTTGAACTCTCATACAATGCTAGTAGGAATGAAAGATGTTACAGTCACTTTGTAAATCAGTCTGGCAGTTTATGACTCAGCAATCCAACTCCTGGGTATTTACCCACATGAAATGAAAATATATCTTCACACAAAAACCTGTATATAGATGTTTTACAGCAACTTTAATCGTGGTCACGGAGAACTGAAAATTATCCAAACTGTGCACAAACTGTAGAACTTTCATATAATGGAATCTTACTCAGCAACAAAAACTGACAACTACTAGTATGTATACAACTGCTAGTATGTATATAATAAGATGGACAAATCTTAAATGCATTATGCTAACTAAAAGAAGCCATTTGAATGGCTACATATTATGTGATCCATTTACATGACAATATGGAAAAGGCAGAATTATACATAACAAAACATGGCAGTGTTTGCTTAGTTTTAGGAAGGGTAGAAGAGGGGTTAGCAATAATGGAGACCGACATCATGATGCTGCTTCACATCCTGATTGTGGTAGTGTCTGTTCTTCCTGGCAGCTTTTTGGATGTGCTTTTTAAACATGGTACTCTGCAATTTCCTGATAATATCCCTTTATATGTAATCACTTTTTAGTCATATTGTTGGTATCCAGGGAATCTTTTGATCTGCACAGTAGTACATTGGTTCTGGGATACTTTCTTGTCTTTTTTTTTTTTAAATTTTCTCCCTCTTTTCCTTTGATTCTCTTTTGAAGCTCTTATTATTCAAATATTAGACTTCCTGGATACTCTCTATTGTTTTTTCTTTGTCTCTCTCTCTTTTAAATCTTTGTGTTTCATTGCATTTTCAGAGACATTCCCTTGAACTTTCTTCAAAAGTTTCAATTCAGCTTTTCACCCTTTTAATTTCCATGAAGTTTTCTCCTCGTTGGTTATTTATTTATTTTTTTAAGTATGCTGGTTTTGTTTTATGGTTAGAGAATTTTCTTTTATCTGTCTGAGGCTATAATTTTTTTTCCTCACCTGCATTATCTCTGAATCTATTGTATCATGTCTTTTGTTTATTTTGGTCCCCTTTTTATCTTTAAGAGTGATGCACCAAAAAAAAAAAAAAAAAAAAAAAAAGCTGACTAAAAGCTTTATAGTTAGGTGAGCCTTGTTGATTGGCATACTTCCCTACTGGGTGACCAGAGGACAAGTTGTTTTTACTGTTAGGGATCCCTATATGCTATTATCTGGAGGTATTTTTTTTGAGATCATTCTTTTTTTTCTAGAAAACTATGTTCAGTTTCCTATCTGGAGGTGTTTATGACTTGTCTACTTGCTTTTGAGGGCAGAACTGGGAAACTTAGCCAAAAAGCCCACCATTCAGGTTGTAGTCTCACTTTATCACTGTTTTTACTTCTGTGTCTCATCTCAGCTCCCCTCTGCCTAGTAGCCCTCAGTTTCTCCAGAGAATAAATGTCTAATCTCCTGGTCGGTGGACTTTGTCATGTGGAGGAAGAGAAATAGACCCCTGGATGCACAGCAAAGATGCAAGAGACCTGGGATTCCAAACACTTATTTGTTAACAGTTGTGTCTCACCCCATGATTTCAGCTTTAAACCCTACCCTCTCTCCTCCTCTTTACATCCTTAAAACTTCTAAGTGCTCAGCCTCTCCAGTTCTCTGTGGAAAAAACAGTTTGTTTCCTGTCATTATTGTCTTTTGTCAACCAATATTTTGGTTGTAAATTTCTCCACTGTATTAAATCATTTGCTTCTTTCTGACAAATATTGCTTACAAAATTGTGTTGCAATCTCTTTTCTGTTGTTGTCTCCTCTCTCACTTTCCTTGTTCTTGTTGTATAATACTCTTTTTAATGTTTCTGTCATCAATTTAATGTATTTGGATACAAGCAATTTTTAATAGCAACTAAAAATATTTGTCCTCTGTTATTATGTGCAATAATCTTCTTAAAGGAAAAAAAACCTAGAGACACAGTCACATTTGTTCCATTTCTTATAAAGCTTAGACGTTATTTTTAGTTATAAATAAATATGTACTATGAGGCATATTCTGTTACGTCATTCACATGGGCTTGAGTCATGGGGATGCCAGCAGACAAGAATTTGAAAACATCCACCCACCTAACTATAATTCTTCCTTGAGCTTTTCAAGACTGAAGTCAAAGGTCACATCTTCCATGATGCCTTCACTGATAATTCTGGGTAAAGTTTGCTATTTTTCTCTTTATGTTCTTGCACATCTAAACCTCTTATTATAGTGTTTTTTACATTGTTCTATAAACATTTATTTAGGGGAGTATCTTCCCCAGTGGACTGGAACTTTGCAAATTTAGAATCATGTCTTATGCTCTTTTGTATTACTTTTGCCTTCTATGTGTGTGTGTATATATATTATATATATATATATAATATATATTATATATATAATATATATTATATATATATAATATATATTATATATATATATATAATATATATATATATATATATATATTTTTTTTTGAGACAGAGTATCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTCCAAGTTCCGCCTCCCAGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCCCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAGCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCCACCTTGCCTTCTATATTATTATAGCCACAGATGTGTTTGCTAAAGAATAAAGGTCTCTAACGCCCATTTAATATGACTATTTCCTCCCTGCATAGTAGATAATACTGTGAATAGGTTGGGGGATATCTGCTGGGGGGATTATAAACTAATTAGTATGCCAAAAATTAGATCAGTATCTATCATGTGTTTGATAGAAGATATACTCAAGCAGACAAGATATGATTATTGCCACGAACAGCTAACAGTCAGGTTAGTTGAATTTTTCTAATTATTTTAACCATTGGTTGCCAAAACCAGTACTAATTTTTTGAACTGATTTAAGATCCAGAAATTTCAACATGTCATAGAGAAATCCTTCAGAATTGAAACATTAATAATAGACTTATTATTTCAGTGTGTGTATGTGTCTGTGTGTGTGTGTGTGTTGTTTGCACATGTAAGAGAAGGGTGATTCATTTGGCTTAAGCAAAAAGTATAATGTGAAAGCACTAAGATTTCTTTTCCCAGCCTCAACTTGATACAAACGGATGAACAATTTACCATCTTATTTTCAGCTTTGGAAACAATACCAAATATTATTATTATTGTTGTTGTTACTAATTATGAATTATAAAGAGACTCGCTTTCAAACTATGGTCATTTCTCAGCAACAAAAGAATAAAGAAAAATAAAGTGATTCTACCAAGAAGCTGACAAAATTGGTAATGCTTATCTAAACATTATCTGCCCTACTAATTTTACAGATTTCTAGCTTTAGGGCACTCTGATGTATATAAATCAATTTTTTTTCAAAAAGATTAAGTTAGAAGGTAGTCATTACAATTAAGCTTGTATTATGCTCCGCAAAAGGATTCACTAAAGGACACATTCAAATAAGGAGACATGTATTTCAAGTATTTGCTTACAGGTTACTAAATAAGAAATCTGAGGCTGGGCAATCAGGGAAATTAAAGATTAAATGCCATTGGATGTCCAGTGAAGATTAATATCTGTGAAATAATATCAAAAATTTGATTTACACACATACTTATAATAACCCATTAAATGAGATTGTCATGGCTGAGAGGATACCTTTGATTTTTATTTTCATTTCTTCTGATCAGAGTTCCTTAGATTTAACTGACACAAAATTTTGTACCTTGAAGTGATGCCACGAATTGTGGGTGTTGGTATA	T	criteria provided, single submitter	ClinGen:CA658795592
Duplication	NM_003322.6(TULP1):c.855dup (p.Val286fs)	TULP1	Likely pathogenic	6	35473923	35473924	C	CG	criteria provided, single submitter	ClinGen:CA658796759
Deletion	NM_001142800.2(EYS):c.8678del (p.Asn2893fs)	EYS	Likely pathogenic	6	64431249	64431249	AT	A	criteria provided, single submitter	ClinGen:CA658796781
single nucleotide variant	NM_000350.3(ABCA4):c.4539+2064C>T	ABCA4	Pathogenic/Likely pathogenic	1	94492937	94492937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795482
Deletion	NM_206933.4(USH2A):c.7524del (p.Arg2509fs)	USH2A	Pathogenic	1	216073487	216073487	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1394815
single nucleotide variant	NM_006343.3(MERTK):c.1296+5G>A	MERTK	Likely pathogenic	2	112740575	112740575	G	A	criteria provided, single submitter	ClinGen:CA658795841
Deletion	NM_003611.3(OFD1):c.363del (p.Ser122fs)	OFD1	Pathogenic	X	13757014	13757014	TC	T	criteria provided, single submitter	ClinGen:CA658799581