フォン・ヒッペル・リンドウ病

腫瘍性疾患

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_000551.4(VHL):c.394C>T (p.Gln132Ter)	VHL	Pathogenic	3	10188251	10188251	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606205
Deletion	NC_000003.12:g.10133799_10141895del	VHL	Pathogenic	3	10175483	10183579	CATGTGATCCAACAATCTCACTTCTGGGTATATATACATAGGAAATGAAAATCAGTATTTTGAAGAGATATCTGCACTCCCATGTTCATTGCAGCACTATTCACAATAGCCACACTATGGAATCAAGTGTCCATTGCCAGACGAATGGATAAAGAAAATGTGCGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACATTGGGAGGCCAAGACGGGCAGATCACTTGAGATCAGGAATTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGCAGTGGTGGGCGCCTGTAATCCCAGTTACTCTGGAGGCTGAGGCAGGAGAATCGCCTAAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAATCAATTAATCGATCAATAAAATACGTTGAACTCACAAAAGCAGGCAGTACAATGGTGGTTGCCAGGGCCAGGGGAGTTGAGATGAAACAGGGAGATATTGGTCAAAGGGTACGAGTCACCCTTTTGGTTGGGAGGAATATATTCTGGACATCTGTTATACAGCATGATGACTATAGTTAATAAATAATGTATATTTGAAAATTGTTAAGAGTGTAGTTTTTTTTTTTTTTCTAAGACGGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGACAGAGCAGGAGCACTGTCATCTTGGACAAACACCACCACTTTAAGTTCCAGCTCCCTTTCTAGCCTCATACATTTCAAGGAAATCACTTCTCTTCTAACCACAAGCAGCCAGAAAGAGCAGACAGTAAAACACAGATAAGACAGCTTGGGCACAGAGGGAAGTAGGGGGAAAGTCTACTTTCCCCCTACTTGGGTAACTGGGTAACTGCCAAACTTCACCCTCATACAATGTGCCCCAGTAAAACAGTGGGCCTTAATAGGCACATTTCTTTCCCTCAGGTGCACTAAGATAGGGAAGCTAAAAGCAGACTCAGGGGACATGCCTGCAGCTGCAGAAAGATGTACGGGAACAGACAACTCTCCCGCCCAGGTAAGCACAACGAAGAGACACAGAAGCAGTCGAAGCCTCTGATAAACTCTCCCACCCTGAATCCTTAAAAACTCTGTAAGATTGTGCAGCTTCTGACCTAACTTGGTCAGAAATCCCTCCCAGGTTTGAAATAAACCTGTTGACTGTCAACCCACCCTTCATGTTTCTCTCCTTTAATTCTGACACTGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGCGTAGCTGGGACTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCAGACCTCAGATGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGCTTACAGGCATGAGCCACCGTGCCCAGCCAAAAGAGTAGATCTTAAATGTTCTCACCACAAAAAAACTGAAGTAATAAATACATTAGCTTTATTTTTTAAATTTTTAATTATTTTACAAAATAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCCTGAACTCTGGGCTCAAGCAATCCTCCCACCTGGGTCTCCCAAAGTGCTGGGATTAACAGACGTGAGCCACTGCACTTGGCCAGCTTGATTATTTTTTAATGGCAAACAAGCTCATGAAAAGATGCTCAACATTGTTAGTCACTAGAGAAGTGTGTCCAGAATTGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCAGACCCTTGCGGTGAGTGTTACAGTTCTCAAAGGTGGCGTGTCCAGAGTTTGTTCCTTCTGATGTTCGGATGTGTTCAGAGTTTGTTCCTTCTGGTGGCTGCGTGGTCTTGCTGGCTCAGGAGTGAAGCTGCAGACCACCGCGAGTATTACAGCTTTTAAAGCACTGCATCTAGAGTTTTTGGTTCCTCCAAGTGGGTTCGTGGTCTTGCTGGCTTCAGCAGACCTTCACGGTGAGCGTTACAGCTCACAAAGGCAATGCGGACCCAAAGAGTAAGCAATAACAATATTTACCGCAACGACTAAAAGAACAAACCTCTCACGACATACAAATGGACCCAACCGGGTTGCCACTGCTAGCTCTGGCAGCCTGCTTTTATTCTCTTACCTGGCCCCACCCACATCCTGCTGATTGGTCCATTTTACAGAGAGCCCATTGGTCCATTTTACAGAGAGCTGATTGGTCCGTTTTGACAGGGTGCTGATTGGTGTGTTTACAATCCCTGAGCTAAACACAAAGGTTCTCCAAGTCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCCAATTGGTGTATTTACAATCCCTTACCTAGACATAAAGGTTCTCCAAGTCCCCACCAGACTTAGGAGCCCAGCTGGCTTCACCCAGTGGATCCTGCACCGGGGCGCAGGTGGAGCTGCCTGCCAGTCCCGCACCCTGCACCTGCACTCCTCAGCCCTCAGGTGGTTGATGGGACTGGGCGCAGTGGAGCAGGGGGTGGCGCTCGTCGGGGAGGCTCGGGTGGCACAGGAGCCCACGGAAGAGGGGGGAGGCTCAGGCATGGCGGGCTGCAGCTCCTGGGCCCTGCCCGGCTGGGAGGCAGCTAAGGCCCTGCGAGAAATTGAGCACAGCAGCTGCTGGCCCAGGTGATAAGCCCCTCACTGCCCTGGGCTTGCAGGCCGGCTGAGCCCACGCCCACCCGGAACTTGTGCTAGCCCACAAGCGCCACGGCAGCCCCGGTTCCCGCCCGCACCTCTCCCTCCACACCTCCCTGCAAGCTGAGGGAGCCGGCTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCCGCATGCTGGACAGCTCCTCAAGCGTGGCCAGAGTGGTGGCCAAGGCCAAGGAGGTGCCGAGAGTGAGCGAGGGCCGCGAGGGCTGCCAGCACATTGTCACCTCTCAGAAGTACAAATTAAACGTCAATAAGATACCACTATACATCAATTAGAATGGCTAAAATTTTTTTATTTTTAAAGAACAAAACCCCAGGCCAGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAGATACGAAAAGTTAGCTGGGCGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACATGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCGGCAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAACAAAACCTCAAATCTGATAATACCAACTGTAGACAAGAATGTGGAGCAACTGGAACAGTCATACATTGCTGGTGAGAATGCAAAATGATACAACTGCTCTGGGGAAACAGGTTAGCAATTTCTCATGAAGTTAAACATGTACTTTGTGTTTGACCTAGCAATCTCCTAGGTGATTCTCACCCAAGAGAAACAAAACTTATGTTTGCAAGAAACCTGTACACTAATGTATATAGCAACTTTATAATTGCTAAAAACTGGAAACAAACCAATATCTTGCAGTTGGTAAGTAGATAGTATGGAATACCCTTGGCAATAAAAATGAGTAAGTTATTATATACTACAACTTGGATGAATCTCAAATGCATTATGCTAAGTGAAAAAAAGCCAAACTCATAAGGCTACATATGATACGATTTTGTTGTGTGACATTCTGGAAAGGCAAAACTATAGGGACACAAGACAGACAGACCAGTGCTTGCCAGGGATTAACAGTGGAAGCAGGGTTTGACCATGAAGGAGTTTTGGGGGTGACAAGATACTCTGGTTTTTTTTTTTTTCTTGAGACAGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAAAAACTGGAAACGAAGTAAATATGGCAACATGCTAATTACATGTGACATTATCAGTATTTGCTTTATTATTGTACTTGTATATTTTAATTGGTCGACATACAAACAAGGCAAAATATATCCCCCTTAGAGAAAATTTGGAAAAGACAGAAAAGGAGATAGAACAAGTCACCAGTTGTCTTTATTTATTTATTGAAACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTCCGGTGGCGCCATCTCCGCTTACTGCAAGCTCTGCCTCTCGGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTGTTTTTGTATTTTTAGTGGAGACAGGGTTTCACTGGGTTAGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACTTGCTTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACCGGTTGTCTTTAGACATTGTATTTTTTATTCTTTTCTACATGTCTTTTTGCCTAATGAAAAGTGTACTGTAAGAAAAATTTTGCCTGTGTATTCTAAACTTGTTTCCTTTGCAACTTTTTCTTTTCTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTACCCAGGCTAAAGTGCAGTGTCGCGATCACAGTTCACTGCAGCCTTGACCTTCCTGAGCTCAGGTGATCCTCCAGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCACCCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACAGGATTTCATCATGTCGCCCAGCCTAGTGTCGAGCTCCTCAGCTCAAGTTATCCGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCACAAGCCACCGTGCTTGGCCACCCCTTCCTCTTAAATGATCTTTGAAACATTATTTGCAGTCTCAAAGCCTGCATTTATCTAAACAACTGGTTTCATTTTAGGGATGTAGGCATTTCTGTAATATTAAACTGTTATATTTCACCTCGCTAGCATGGGAGTACAACTGAGGGGATGTTTGCATGAATCTTGTGAATTATGATGGCTCTAAGCCATTGTAATTTGATTAACAGAAGTCCTACTTTGGGGTTTATCTTATTTTTATTATTTATTTATTTTTTGAGTGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTGGGCTCACTGCAACCTCTGCCTCTGGGGTTTAAGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAG	C	criteria provided, single submitter	ClinGen:CA16043394
single nucleotide variant	NM_000551.4(VHL):c.556G>T (p.Glu186Ter)	VHL	Likely pathogenic	3	10191563	10191563	G	T	criteria provided, single submitter	ClinGen:CA16604432
Deletion	NC_000003.12:g.(?_10141635)_(10142187_?)del	VHL	Pathogenic	3	10183319	10183871	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10146514)_(10146636_?)del	VHL	Pathogenic	3	10188198	10188320	na	na	criteria provided, single submitter	-
Deletion	NM_000551.4(VHL):c.226_227del (p.Phe76fs)	VHL	Pathogenic	3	10183757	10183758	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611078
Duplication	NM_000551.4(VHL):c.422dup (p.Asn141fs)	VHL	Pathogenic	3	10188277	10188278	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611276
single nucleotide variant	NM_000551.4(VHL):c.488T>G (p.Leu163Arg)	VHL	Pathogenic	3	10191495	10191495	T	G	criteria provided, single submitter	ClinGen:CA16611277
Deletion	NM_000551.4(VHL):c.179_192del (p.Arg60fs)	VHL	Pathogenic/Likely pathogenic	3	10183707	10183720	CCGCGGCCCGTGCTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617784
Deletion	NM_000551.4(VHL):c.482_486del (p.Arg161fs)	VHL	Pathogenic	3	10191487	10191491	AGCGAT	A	criteria provided, single submitter	ClinGen:CA16617791