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
Deletion	NM_000551.3(VHL):c.-75_-55del	VHL	Likely pathogenic	3	10183457	10183477	AGCGCGCACGCAGCTCCGCCCC	A	criteria provided, single submitter	ClinGen:CA020542
Deletion	NC_000003.12:g.10133799_10141895del	VHL	Pathogenic	3	10175483	10183579	CATGTGATCCAACAATCTCACTTCTGGGTATATATACATAGGAAATGAAAATCAGTATTTTGAAGAGATATCTGCACTCCCATGTTCATTGCAGCACTATTCACAATAGCCACACTATGGAATCAAGTGTCCATTGCCAGACGAATGGATAAAGAAAATGTGCGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACATTGGGAGGCCAAGACGGGCAGATCACTTGAGATCAGGAATTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGCAGTGGTGGGCGCCTGTAATCCCAGTTACTCTGGAGGCTGAGGCAGGAGAATCGCCTAAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAATCAATTAATCGATCAATAAAATACGTTGAACTCACAAAAGCAGGCAGTACAATGGTGGTTGCCAGGGCCAGGGGAGTTGAGATGAAACAGGGAGATATTGGTCAAAGGGTACGAGTCACCCTTTTGGTTGGGAGGAATATATTCTGGACATCTGTTATACAGCATGATGACTATAGTTAATAAATAATGTATATTTGAAAATTGTTAAGAGTGTAGTTTTTTTTTTTTTTCTAAGACGGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGACAGAGCAGGAGCACTGTCATCTTGGACAAACACCACCACTTTAAGTTCCAGCTCCCTTTCTAGCCTCATACATTTCAAGGAAATCACTTCTCTTCTAACCACAAGCAGCCAGAAAGAGCAGACAGTAAAACACAGATAAGACAGCTTGGGCACAGAGGGAAGTAGGGGGAAAGTCTACTTTCCCCCTACTTGGGTAACTGGGTAACTGCCAAACTTCACCCTCATACAATGTGCCCCAGTAAAACAGTGGGCCTTAATAGGCACATTTCTTTCCCTCAGGTGCACTAAGATAGGGAAGCTAAAAGCAGACTCAGGGGACATGCCTGCAGCTGCAGAAAGATGTACGGGAACAGACAACTCTCCCGCCCAGGTAAGCACAACGAAGAGACACAGAAGCAGTCGAAGCCTCTGATAAACTCTCCCACCCTGAATCCTTAAAAACTCTGTAAGATTGTGCAGCTTCTGACCTAACTTGGTCAGAAATCCCTCCCAGGTTTGAAATAAACCTGTTGACTGTCAACCCACCCTTCATGTTTCTCTCCTTTAATTCTGACACTGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGCGTAGCTGGGACTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCAGACCTCAGATGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGCTTACAGGCATGAGCCACCGTGCCCAGCCAAAAGAGTAGATCTTAAATGTTCTCACCACAAAAAAACTGAAGTAATAAATACATTAGCTTTATTTTTTAAATTTTTAATTATTTTACAAAATAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCCTGAACTCTGGGCTCAAGCAATCCTCCCACCTGGGTCTCCCAAAGTGCTGGGATTAACAGACGTGAGCCACTGCACTTGGCCAGCTTGATTATTTTTTAATGGCAAACAAGCTCATGAAAAGATGCTCAACATTGTTAGTCACTAGAGAAGTGTGTCCAGAATTGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCAGACCCTTGCGGTGAGTGTTACAGTTCTCAAAGGTGGCGTGTCCAGAGTTTGTTCCTTCTGATGTTCGGATGTGTTCAGAGTTTGTTCCTTCTGGTGGCTGCGTGGTCTTGCTGGCTCAGGAGTGAAGCTGCAGACCACCGCGAGTATTACAGCTTTTAAAGCACTGCATCTAGAGTTTTTGGTTCCTCCAAGTGGGTTCGTGGTCTTGCTGGCTTCAGCAGACCTTCACGGTGAGCGTTACAGCTCACAAAGGCAATGCGGACCCAAAGAGTAAGCAATAACAATATTTACCGCAACGACTAAAAGAACAAACCTCTCACGACATACAAATGGACCCAACCGGGTTGCCACTGCTAGCTCTGGCAGCCTGCTTTTATTCTCTTACCTGGCCCCACCCACATCCTGCTGATTGGTCCATTTTACAGAGAGCCCATTGGTCCATTTTACAGAGAGCTGATTGGTCCGTTTTGACAGGGTGCTGATTGGTGTGTTTACAATCCCTGAGCTAAACACAAAGGTTCTCCAAGTCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCCAATTGGTGTATTTACAATCCCTTACCTAGACATAAAGGTTCTCCAAGTCCCCACCAGACTTAGGAGCCCAGCTGGCTTCACCCAGTGGATCCTGCACCGGGGCGCAGGTGGAGCTGCCTGCCAGTCCCGCACCCTGCACCTGCACTCCTCAGCCCTCAGGTGGTTGATGGGACTGGGCGCAGTGGAGCAGGGGGTGGCGCTCGTCGGGGAGGCTCGGGTGGCACAGGAGCCCACGGAAGAGGGGGGAGGCTCAGGCATGGCGGGCTGCAGCTCCTGGGCCCTGCCCGGCTGGGAGGCAGCTAAGGCCCTGCGAGAAATTGAGCACAGCAGCTGCTGGCCCAGGTGATAAGCCCCTCACTGCCCTGGGCTTGCAGGCCGGCTGAGCCCACGCCCACCCGGAACTTGTGCTAGCCCACAAGCGCCACGGCAGCCCCGGTTCCCGCCCGCACCTCTCCCTCCACACCTCCCTGCAAGCTGAGGGAGCCGGCTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCCGCATGCTGGACAGCTCCTCAAGCGTGGCCAGAGTGGTGGCCAAGGCCAAGGAGGTGCCGAGAGTGAGCGAGGGCCGCGAGGGCTGCCAGCACATTGTCACCTCTCAGAAGTACAAATTAAACGTCAATAAGATACCACTATACATCAATTAGAATGGCTAAAATTTTTTTATTTTTAAAGAACAAAACCCCAGGCCAGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAGATACGAAAAGTTAGCTGGGCGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACATGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCGGCAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAACAAAACCTCAAATCTGATAATACCAACTGTAGACAAGAATGTGGAGCAACTGGAACAGTCATACATTGCTGGTGAGAATGCAAAATGATACAACTGCTCTGGGGAAACAGGTTAGCAATTTCTCATGAAGTTAAACATGTACTTTGTGTTTGACCTAGCAATCTCCTAGGTGATTCTCACCCAAGAGAAACAAAACTTATGTTTGCAAGAAACCTGTACACTAATGTATATAGCAACTTTATAATTGCTAAAAACTGGAAACAAACCAATATCTTGCAGTTGGTAAGTAGATAGTATGGAATACCCTTGGCAATAAAAATGAGTAAGTTATTATATACTACAACTTGGATGAATCTCAAATGCATTATGCTAAGTGAAAAAAAGCCAAACTCATAAGGCTACATATGATACGATTTTGTTGTGTGACATTCTGGAAAGGCAAAACTATAGGGACACAAGACAGACAGACCAGTGCTTGCCAGGGATTAACAGTGGAAGCAGGGTTTGACCATGAAGGAGTTTTGGGGGTGACAAGATACTCTGGTTTTTTTTTTTTTCTTGAGACAGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAAAAACTGGAAACGAAGTAAATATGGCAACATGCTAATTACATGTGACATTATCAGTATTTGCTTTATTATTGTACTTGTATATTTTAATTGGTCGACATACAAACAAGGCAAAATATATCCCCCTTAGAGAAAATTTGGAAAAGACAGAAAAGGAGATAGAACAAGTCACCAGTTGTCTTTATTTATTTATTGAAACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTCCGGTGGCGCCATCTCCGCTTACTGCAAGCTCTGCCTCTCGGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTGTTTTTGTATTTTTAGTGGAGACAGGGTTTCACTGGGTTAGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACTTGCTTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACCGGTTGTCTTTAGACATTGTATTTTTTATTCTTTTCTACATGTCTTTTTGCCTAATGAAAAGTGTACTGTAAGAAAAATTTTGCCTGTGTATTCTAAACTTGTTTCCTTTGCAACTTTTTCTTTTCTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTACCCAGGCTAAAGTGCAGTGTCGCGATCACAGTTCACTGCAGCCTTGACCTTCCTGAGCTCAGGTGATCCTCCAGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCACCCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACAGGATTTCATCATGTCGCCCAGCCTAGTGTCGAGCTCCTCAGCTCAAGTTATCCGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCACAAGCCACCGTGCTTGGCCACCCCTTCCTCTTAAATGATCTTTGAAACATTATTTGCAGTCTCAAAGCCTGCATTTATCTAAACAACTGGTTTCATTTTAGGGATGTAGGCATTTCTGTAATATTAAACTGTTATATTTCACCTCGCTAGCATGGGAGTACAACTGAGGGGATGTTTGCATGAATCTTGTGAATTATGATGGCTCTAAGCCATTGTAATTTGATTAACAGAAGTCCTACTTTGGGGTTTATCTTATTTTTATTATTTATTTATTTTTTGAGTGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTGGGCTCACTGCAACCTCTGCCTCTGGGGTTTAAGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAG	C	criteria provided, single submitter	ClinGen:CA16043394
Duplication	NM_000551.4(VHL):c.163dup (p.Glu55fs)	VHL	Pathogenic	3	10183692	10183693	T	TG	criteria provided, single submitter	ClinGen:CA357082
Duplication	NM_000551.4(VHL):c.164_171dup (p.Arg60fs)	VHL	Pathogenic	3	10183692	10183693	T	TGGAGGCCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602889
Deletion	NM_000551.4(VHL):c.163del (p.Glu55fs)	VHL	Pathogenic	3	10183693	10183693	TG	T	criteria provided, single submitter	ClinGen:CA432536363
Deletion	NM_000551.4(VHL):c.180del (p.Val62fs)	VHL	Pathogenic	3	10183710	10183710	CG	C	criteria provided, single submitter	ClinGen:CA020069
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
Duplication	NM_000551.4(VHL):c.189dup (p.Arg64fs)	VHL	Pathogenic/Likely pathogenic	3	10183719	10183720	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683297
single nucleotide variant	NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	VHL	Pathogenic/Likely pathogenic	3	10183722	10183722	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015
Deletion	NM_000551.4(VHL):c.192del (p.Ser65fs)	VHL	Pathogenic/Likely pathogenic	3	10183723	10183723	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020094