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.10403C>T (p.Pro3468Leu)	USH2A	Likely pathogenic	1	215956262	215956262	G	A	criteria provided, single submitter	ClinGen:CA344838197
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_001142800.2(EYS):c.8678del (p.Asn2893fs)	EYS	Likely pathogenic	6	64431249	64431249	AT	A	criteria provided, single submitter	ClinGen:CA658796781
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_206933.2(USH2A):c.9335_9371+8063del	USH2A	Likely pathogenic	1	216003269	216011368	TTCCCATGCAGGCCAATATGGAATAAGCCCATTACAGCTTATCTCTCCCACTGATTACAACTCAGTATCTGCAAAAATTATATAAAGTAACTACCTGAGGACTCTGAAAAGCTAACAATAAGGCTGATCAGGAGGGGAGACAAAACTTTAAGAATGAATGTTACAGGGTGAGTTTCCCATTTTTTTTCCCCCTCCTTTACTTCCCATCTTTAACCCAAGGGCAGTATCAGTGTGAAACTGTGAACTAGGGAAGCAAAATCCTAGAGAAAGTAAATTTTTTCCGGCTAGAGTATCTAGAACAAAATGCCTTGCAAGCCAGAGAGTATAGGGAAAACCCCCATTTTTGTTTTGTTTTGTCTTCTTTCTGCTGGGCCCTGCTCCGAGGATGATCAGAGCCAAGGAGCTGCACTGCGGCAGCTGTGGCCAAATTGGAATCTAAAGCCCCAACGGGGGGAAAAATCTTTCTGTCCAGAGAAATCAGGAAATGGGGCCTCTATAGTCCAAAGAATGTGGGGGAAGTCCTTGTTATTTTTTTTTCTCGAATTCCTCTTACCTCATTGCCTAAGAACAACTCCAGTTATGCAAATTTGGAGGCAGGCTGGGAGGCAAACATTTCAAAAGAAATCATATCATTCTAGCCAAAAATCCAGGGAAGGAAGTCCAAAGGAGCTGGAAAGATGGGGGACATTTCAGAGAGAAGAAAGCTAGAAGCTAATTTTATGAATGAACGAACGCAAGTCCTGACTCAACTCCAAGCTGCACATTTATGGTTGCCTCACATGCATAGCCTATGCAAGCAGCACAGCGAAGATTTTGAGATCAGAACTATTACATAATTCTACAGCCAAATCCCAAATTAGCCATTGTGCAGACACAGAGTAGTAAAGCAAAGTTTATAGCTTTGTTATGCTACTTTATGAAAAAATAGGAACTGACTGTAGTCACTGGCAAAGGAAAACAGAATTTGGAGTCTGAAGCTAACCAGTTGGTAACCTGCTGAAAAAAGTAAATAAGAACTCTAACTTTCTTCAAAGGATTTTAACAGGAGTCAGATTTTTATAACGTAATATTCAAAATGTGAAGGAATCAATCGAAAAATCACCCAGAATTACACTAAGCAATTGAAAGCTGGAGTGGCTATATTAATATTAGACAAAATAAACTTAAGAACAAGGAAATTATCAGGAAGTAAAAGGGCTTATCACATAATGATACAAGAGCCAGTTTATCAAGACATTAACAATCCTAAACATGTATGCACTTAATAATAAAACATCAAAGTACATGAAGGAAAGACTAATAGATCTGAAGAAGAAATAGATAAAGCCACAATGACATTTGGAGACTTCAACACCATTCTCACAATAACTGATAAAACAAGCAGGCAGAAAATCAGTAAGTATATAGATGATCTGAACACCATTATCACTCAACTTGATCTAATTGACATTTACAAAACACTCTATCTGACAACAACAGACTGTACCTTCTCCTCAAGTGCACATCCATTCACTAAGATAGATCATATTCTGGGCCCTGAAAAAACTGTAACTAATTTAAAAGAATTGGAATTCTAAAATTATGTTCTTAGATCATAATAGAATTAAACTGGAAACTCAGATAGAAACTTATCTGAAAAATCCCCAAATACTTGGAAATTAAACAATACCCTTGTAAATAATCCATGGGTTAAAGAAGTCTCAAGAGAAATTAAAATATATTTTGAATAAATGAAGTGCAATGCAACATTTCAAAATTTGTGAGCTTCATACCGAAGCAGGACTGAGAGAAAAGAAGAAAGGTCTCAAATCAATAATGAAAGTTTTCATCTTTAAGAAACTAGAGAAGCAATAGCAAGGCAAGAGGGAAGAAAACAATAGAGAGCAGAAATCACTGAAATGGAAAATAGAAAACAATGTAGATGATATAGAAAATAAATAAAGCCAAAAATGGTTCTTTGAAAAGATCTACAAAATTGATAAAACTCTAGGCTGAACAGAAAAACGGGGGCACTTACTACCAATATCAGAAATGAAAGAATAAAATCAATTGCAACAAATTGTTGTTTGTAGTACAAACATACTACAAACAACTTCCTGCTAATAAATTTGACAAATTTGATTAAATTAACCTATTTTCTGCACCCACAAGATGACTAAACTCACTGGAGAATAAATTGCCAAATATCATACATTATTAAGGGAATTGAATTCCAAGTTAAAAAACCTTCCATCAAAGAAAAACTCCAGGCAAATATGGGTTTCACTGGTGAATTTTACCAAGATTTAAGAAATAATAACACTTTTGTACAATCTCTTCCACAAAATAGAAAAGAAGGAAATGCTTCCCAAGTTAGTATGAGACCAGAAATTACCATGATACCCAATCCAGGCAAAGGTATTACAAGAAAATCAAACACAGTCCAATATATTTTATGAACACAGATGAACATTTTCTATAAGATAATAGTATATTGCATCCCCCAATATATGAAGAAGAAAATATGTCACAACGAAGTTCTGGTTATCCAGCGAATACAAACTAGTTCAATAATTTAAAATCAGTAAATATAATCGATCATAGTACAAATTTAAAATGTCAAAAAAGCATGTGACAAATTTCCATGTCCATTTATAATGAAAATTGTCAGCAAATTAAAAATAAAAAGTAAGTTCTTCAACGTGATAAAAGGCATGGCCAAAAATTTCATACGTAACATCACATCTAAGGGTAAAAGACTGAAAGTTTTCTTTCAAAGATTGGGAACAAGTCAAGGATATGCTCTTATCACGTTATTAAACTATCCAGTGCAATAAGGCAGGAAAAAGAAATAAAAGACATACTGATTGGAAATGAAAAAAATAAACAGTTTCTCTTTGTAGAAGATCTATATAGACTAGGGAATTACAAAAAAGCTCTTAAGACTTACAAGGAGTTTAGCAAGTTTGCTGGATGTAAGCTCACTATTCCAAAATTAATTGTGTTTCTACACACTAGCAACAATTGGATTTGAATTTGTTTTAAAGAAACAATAATAATAGCACCCCCCAAATAAGTAATTAGGTATAAACTTAATAAAATATGTGCAGTATTTGCATACTGGATTATATAAAACACTGATAAAATAAAGGAAAGAAGATGCAAATAAATGAGCAAGAGTGTGTTCTTGAATCAGAACATTTGATATTGTTAAGATGTCAATTCTCTACCAATTGATCCACAAATTCAATGCAGTTCTAATCAAAATCACATGTTTTGTAGATATCAATGACCTGTTTCTGAAATTTATATGGACAGGCAAAGTAGTGAGAAAGGCCAAAATGATTTTTATAAAGGTCAAAGTTGGAGGACTCATACAATGTGATTTGACAGCTTACTATAGAGCTGTAGTAATCAAGATTGTGCGATATTGGTATAGATATACATATTGATAAATTGAACATAAAAGAGAGTCCAAAAATGGCCTACAAAACGTGTTTAAATTGATTTTTGACAAAAATCTAAAAATATTCAATAAAGAAAAGATAATCTTTCCAAAAATTTTGTTGATACTATTAAATACTTACATGCCAAAAAAAATTAACCTTGACTCATGCCTCAGTGTATACAAAAATTAACACAAAACCAATCATAGACATAAATTCAACATGTAAACATACAAATGTTCTAGGAAATAGACAAGAGAAAGTCTCTGTGACCTTAACTCAGGCAAAAAGTTCTTAGATAAAATACCAGATGCACAAACTGTCAAGGAAAAAGTAACAAATCTAACTCTCTTGGAAAGTTAAAACTCTTTCTCTTAAAAACACACAAATAAGATAATTGAAAACAAATCATAAGGTAGAGAAGAAATATCTGTAAATCACATATGTGACAAAAACTCAAATCCAAAATATATTTAAAAAATTTTCAAAACTCAAAAAATAAGAAAACAAAGAATCTAATTAAGAAATTTGCAAAAGATTTGGAGATACCATTTCCCAGAGTAAACAAATGCCAAAGTGCATGCAAAAAGCAATTGCAAAGCTTATCAGTATCATTAGTCATTAGGGAAAATGTAATTTAAGACCATAATAACACACCACAAACATCTATTAAAATGACTATTTAAAAAATAAGAGGAAAACACCTCATAGTATCTCATGTTCTAGCAAAAATGTAGAGCAACTTGAACTCTCATACAATGCTAGTAGGAATGAAAGATGTTACAGTCACTTTGTAAATCAGTCTGGCAGTTTATGACTCAGCAATCCAACTCCTGGGTATTTACCCACATGAAATGAAAATATATCTTCACACAAAAACCTGTATATAGATGTTTTACAGCAACTTTAATCGTGGTCACGGAGAACTGAAAATTATCCAAACTGTGCACAAACTGTAGAACTTTCATATAATGGAATCTTACTCAGCAACAAAAACTGACAACTACTAGTATGTATACAACTGCTAGTATGTATATAATAAGATGGACAAATCTTAAATGCATTATGCTAACTAAAAGAAGCCATTTGAATGGCTACATATTATGTGATCCATTTACATGACAATATGGAAAAGGCAGAATTATACATAACAAAACATGGCAGTGTTTGCTTAGTTTTAGGAAGGGTAGAAGAGGGGTTAGCAATAATGGAGACCGACATCATGATGCTGCTTCACATCCTGATTGTGGTAGTGTCTGTTCTTCCTGGCAGCTTTTTGGATGTGCTTTTTAAACATGGTACTCTGCAATTTCCTGATAATATCCCTTTATATGTAATCACTTTTTAGTCATATTGTTGGTATCCAGGGAATCTTTTGATCTGCACAGTAGTACATTGGTTCTGGGATACTTTCTTGTCTTTTTTTTTTTTAAATTTTCTCCCTCTTTTCCTTTGATTCTCTTTTGAAGCTCTTATTATTCAAATATTAGACTTCCTGGATACTCTCTATTGTTTTTTCTTTGTCTCTCTCTCTTTTAAATCTTTGTGTTTCATTGCATTTTCAGAGACATTCCCTTGAACTTTCTTCAAAAGTTTCAATTCAGCTTTTCACCCTTTTAATTTCCATGAAGTTTTCTCCTCGTTGGTTATTTATTTATTTTTTTAAGTATGCTGGTTTTGTTTTATGGTTAGAGAATTTTCTTTTATCTGTCTGAGGCTATAATTTTTTTTCCTCACCTGCATTATCTCTGAATCTATTGTATCATGTCTTTTGTTTATTTTGGTCCCCTTTTTATCTTTAAGAGTGATGCACCAAAAAAAAAAAAAAAAAAAAAAAAAGCTGACTAAAAGCTTTATAGTTAGGTGAGCCTTGTTGATTGGCATACTTCCCTACTGGGTGACCAGAGGACAAGTTGTTTTTACTGTTAGGGATCCCTATATGCTATTATCTGGAGGTATTTTTTTTGAGATCATTCTTTTTTTTCTAGAAAACTATGTTCAGTTTCCTATCTGGAGGTGTTTATGACTTGTCTACTTGCTTTTGAGGGCAGAACTGGGAAACTTAGCCAAAAAGCCCACCATTCAGGTTGTAGTCTCACTTTATCACTGTTTTTACTTCTGTGTCTCATCTCAGCTCCCCTCTGCCTAGTAGCCCTCAGTTTCTCCAGAGAATAAATGTCTAATCTCCTGGTCGGTGGACTTTGTCATGTGGAGGAAGAGAAATAGACCCCTGGATGCACAGCAAAGATGCAAGAGACCTGGGATTCCAAACACTTATTTGTTAACAGTTGTGTCTCACCCCATGATTTCAGCTTTAAACCCTACCCTCTCTCCTCCTCTTTACATCCTTAAAACTTCTAAGTGCTCAGCCTCTCCAGTTCTCTGTGGAAAAAACAGTTTGTTTCCTGTCATTATTGTCTTTTGTCAACCAATATTTTGGTTGTAAATTTCTCCACTGTATTAAATCATTTGCTTCTTTCTGACAAATATTGCTTACAAAATTGTGTTGCAATCTCTTTTCTGTTGTTGTCTCCTCTCTCACTTTCCTTGTTCTTGTTGTATAATACTCTTTTTAATGTTTCTGTCATCAATTTAATGTATTTGGATACAAGCAATTTTTAATAGCAACTAAAAATATTTGTCCTCTGTTATTATGTGCAATAATCTTCTTAAAGGAAAAAAAACCTAGAGACACAGTCACATTTGTTCCATTTCTTATAAAGCTTAGACGTTATTTTTAGTTATAAATAAATATGTACTATGAGGCATATTCTGTTACGTCATTCACATGGGCTTGAGTCATGGGGATGCCAGCAGACAAGAATTTGAAAACATCCACCCACCTAACTATAATTCTTCCTTGAGCTTTTCAAGACTGAAGTCAAAGGTCACATCTTCCATGATGCCTTCACTGATAATTCTGGGTAAAGTTTGCTATTTTTCTCTTTATGTTCTTGCACATCTAAACCTCTTATTATAGTGTTTTTTACATTGTTCTATAAACATTTATTTAGGGGAGTATCTTCCCCAGTGGACTGGAACTTTGCAAATTTAGAATCATGTCTTATGCTCTTTTGTATTACTTTTGCCTTCTATGTGTGTGTGTATATATATTATATATATATATATAATATATATTATATATATAATATATATTATATATATATAATATATATTATATATATATATATAATATATATATATATATATATATATTTTTTTTTGAGACAGAGTATCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTCCAAGTTCCGCCTCCCAGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCCCCACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAGCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCCACCTTGCCTTCTATATTATTATAGCCACAGATGTGTTTGCTAAAGAATAAAGGTCTCTAACGCCCATTTAATATGACTATTTCCTCCCTGCATAGTAGATAATACTGTGAATAGGTTGGGGGATATCTGCTGGGGGGATTATAAACTAATTAGTATGCCAAAAATTAGATCAGTATCTATCATGTGTTTGATAGAAGATATACTCAAGCAGACAAGATATGATTATTGCCACGAACAGCTAACAGTCAGGTTAGTTGAATTTTTCTAATTATTTTAACCATTGGTTGCCAAAACCAGTACTAATTTTTTGAACTGATTTAAGATCCAGAAATTTCAACATGTCATAGAGAAATCCTTCAGAATTGAAACATTAATAATAGACTTATTATTTCAGTGTGTGTATGTGTCTGTGTGTGTGTGTGTGTTGTTTGCACATGTAAGAGAAGGGTGATTCATTTGGCTTAAGCAAAAAGTATAATGTGAAAGCACTAAGATTTCTTTTCCCAGCCTCAACTTGATACAAACGGATGAACAATTTACCATCTTATTTTCAGCTTTGGAAACAATACCAAATATTATTATTATTGTTGTTGTTACTAATTATGAATTATAAAGAGACTCGCTTTCAAACTATGGTCATTTCTCAGCAACAAAAGAATAAAGAAAAATAAAGTGATTCTACCAAGAAGCTGACAAAATTGGTAATGCTTATCTAAACATTATCTGCCCTACTAATTTTACAGATTTCTAGCTTTAGGGCACTCTGATGTATATAAATCAATTTTTTTTCAAAAAGATTAAGTTAGAAGGTAGTCATTACAATTAAGCTTGTATTATGCTCCGCAAAAGGATTCACTAAAGGACACATTCAAATAAGGAGACATGTATTTCAAGTATTTGCTTACAGGTTACTAAATAAGAAATCTGAGGCTGGGCAATCAGGGAAATTAAAGATTAAATGCCATTGGATGTCCAGTGAAGATTAATATCTGTGAAATAATATCAAAAATTTGATTTACACACATACTTATAATAACCCATTAAATGAGATTGTCATGGCTGAGAGGATACCTTTGATTTTTATTTTCATTTCTTCTGATCAGAGTTCCTTAGATTTAACTGACACAAAATTTTGTACCTTGAAGTGATGCCACGAATTGTGGGTGTTGGTATA	T	criteria provided, single submitter	ClinGen:CA658795592
Deletion	NM_000322.5(PRPH2):c.174_184del (p.His58fs)	PRPH2	Likely pathogenic	6	42689889	42689899	TTGGGCACAAAA	T	criteria provided, single submitter	ClinGen:CA658796764
single nucleotide variant	NM_001029883.3(PCARE):c.2393G>A (p.Trp798Ter)	PCARE	Likely pathogenic	2	29294735	29294735	C	T	criteria provided, single submitter	ClinGen:CA1592212
Deletion	NM_206933.2(USH2A):c.1644+10004_1972-12164del	USH2A	Likely pathogenic	1	216436604	216485221	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001242957.3(MAK):c.156+2T>C	MAK	Likely pathogenic	6	10819117	10819117	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA362721537
Deletion	NM_001034853.2(RPGR):c.3081_3091del (p.Glu1028fs)	RPGR	Likely pathogenic	X	38145161	38145171	TCTCCTTCCTCC	T	criteria provided, single submitter	ClinGen:CA658684294