遺伝性褐色細胞腫・パラガングリオーマ

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	NC_000011.10:g.(?_112088857)_(112094980_?)del	SDHD	Pathogenic	11	111959581	111965704	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_112086898)_(112094980_?)del	SDHD	Pathogenic	11	111957622	111965704	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.280G>T (p.Glu94Ter)	VHL	Pathogenic	3	10183811	10183811	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NG_012337.3(SDHD):g.11847_14024del	SDHD	Pathogenic	11	111964415	111966592	ATTCCTTATCATGACCTTCAAGACCCTATGCAACCGACCCCTGCCTTCCTCTGATCTCTGCTTCACCCATGTGCTCCAGCCACACAAATCTTACTATTCATTAGAGATGCCACTTTGGTTTGGATGTTCTCATTCATGTCTTCCTTTCTAAAGTGTTTCTTCTCAGTACATATATATTTACTTTTTCCTTCTCATTCACTAGTATATTCCATAAGGGTAGGGATGCTGTCTCACTTACTATACTCCCAACATTTATGACAGATTCTGGCACATGATATCTACTTAATAAATTCTTTTTGAATTAATTAAAAATACTGTAGAGTTTTAGTTATTTTTAGTTATTGGGGTGAAAGGATCACTTGCAGCCAAGAGTTCAAGACCAGCCTGGGCATCATGGTGAGACCGCATCTTTAAAGAAATAAAAAACAGGCCAGGCGCAGTAGCTCACGCCTGTAGTCCCAACACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAGAAGGAAATAAAAAACAATTAGCCGGGCATGGAGGCATGCTCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCTCAGGAGTTCGAGGCTGTAGTGAGCTATGATCAGGCCACTGCACTCCAGCGTGGGCAACAGAGTAAGACTTTGTCTCTAAAGAAAAGTCACTAGAAATAGACTTACTGACATACACACGCAAAAGGCTATACAGAATCCCCTAAAGAAGCAAACAGTGACAGTGGAGTGGCAAATGGAGACATTGCATTTGAACTTGACAGATTGTTTTTTTGCAGCCAAGTTATCTGTATAGTCTTCTAATTTCACTGTGGTTTTTTATTGATGTTATGATTTTTTCTTTTTCTTTAGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGACCTTTTTGACTTCATACTTTGAAGAATTGATGTATGCCTCTTTGCCTCTGCTTTGTCATGCCATTAAGCTCACAATAAGGAAGAAATAACAGATAAGTCCATTGGTGGACAGCCTTCTTCTCTTAATCACAAGATTATTTTCAGAATTTAATCTTTGAGGAAAAGGTTTGAGAGGAATTATATCTAAGTTGTGAGACTGAGTTCTATATTCTGGTGAGTTAATGGGGTTGCCTCCCAGCTTCTTATAAGACTCACAGTATAACTAAACATGATATATCAGCTTTTGCCTTTCAATTTATCAATCTCTTAAAGAGAATCCAACTTTATTACGATTAGTATATGATCAAACTTCCATATTTGCCTTGGGAATAATGGACAAAGGGAAATACTCTTAATTCATGAATAAAAACTTTGCAGAAAATTAGACAGTGTTTAATTTTCGAAAACTTCCCTCTCTAGACAGTAGATACCACCTACTGATGGTTACATATACTAGGGAAATTTTAAAATTAGGAAATGCTGATAGCTCATATTATAAATTTCTAAATCCTAGGAAGAAACGCTTGGAGTGCTTCTGAATATACAGAAGTTCCATTTAAGGGCAAGTTTCCCTGTAGATGTATCAAAATACTACCAACTGTAAATTGAGATTTAATTCCCAAATGTATTCTACTTGTTCTAAAACAATCTGTCCACAAATATAAAACTATAAGTAATAAATTGTTATTTTCGCACAATGGGAATCTCTAATGTGAAAATGTATTCTATGAAAATAATTTTTTTAAATAAAATGTTATATAATAAAAGTGTCTTCTATGCTTTTATATATTAGCTATCAGTAGTTTTATTCATTAGAATTAGGTGTCCATTGCATCCACAGCATGAAAACAAAATTGGG	A	criteria provided, single submitter	-
Duplication	NM_020975.6(RET):c.2865dup (p.Pro956fs)	RET	Pathogenic	10	43619180	43619181	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	VHL	Pathogenic	3	10191488	10191488	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000551.4(VHL):c.492G>C (p.Gln164His)	VHL	Pathogenic/Likely pathogenic	3	10191499	10191499	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003002.4(SDHD):c.13_14del (p.Trp5fs)	SDHD	Pathogenic	11	111957644	111957645	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001035511.2(SDHC):c.242-408_*4118del	SDHC	Pathogenic	1	161331710	161336447	TTTTTTTTTTTTGGCCCATACAATGGCTTTCAACATTCTGAGAGCAAGTGTTTGGAAGAATACACCTTGAGAAACATTAATCTAGATGTGTGGTCCTGAGGAAAAGTTGTATCTATTCATTCTGGAAGCTTTTGTATACCGTATGGGGCCTGTGGCATTCTAGAGAACATTCCTCCTACCATCACCACACAATAGAACCTGATTTTCTGTCATTGGAATAAGTGGATAATAGGTTCCATACTGTGGGTTTTGAGAAGGGTAAAGGTGGGGCATAAGGGTAGAAGCGCTTTTCTCTAGAATCATGCTGAGAGGAGATATCTATTCCTTTAGGTAGAATTACTTTCTGAGACAGGAACTGTTAATGTCCTATTTACTGAAATTCCTTTTTTTTTTTTTTGCTTTGTCCACAGATGTGGGACCTAGGAAAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTGTTGTCCTCTATGGGGCTGGCAGCCATGTGAAGAAAGGAGGCTCCCAGCATCATCTTCCTACACATTATTACATTCACCCATCTTTCTGTTTGTCATTCTTATCTCCAGCCTGGGAAAAGTTCTCCTTATTTGTTTAGATCCTTTTGTATTTTCAGATCTCCTTGGAGCAGTAGAGTACCTGGTAGACCATAATAGTGGAAAAGGGTCTAGTTTTCCCCTTGTTTCTAAAGATGAGGTGGCTGCAAAAACTCCCCTTTTTTGCCCACAGCTTGCCTACTCTCGGCCTAGAAGCAGTTATTCTCTCTCCATATTGGGCTTTGATTTGTGCTGAGGGTCAGCTTTTGGCTCCTTCTTCCTGAGACAGTGGAAACAATGCCAGCTCTGTGGCTTCTGCCCTGGGGATGGGCCGGGTTGGGGGGTGGGTTGGTGAGGCTTTGGGTGCCACTGCCTGTGGGTTGCTGGCTTAAAGGACAATTCTCTTCATTGGTGAGAGCCCAGGCCATTAACACCTACACAGTGTTATTGAAAGAAGAGAGGTGGGGGTGGAGGGGAATTAGTCTGTCCCAGCTAGAGGGAGATAAAGAGGGCTAGTTAGTTCTTGGAGCAGCTGCTTTTGAGGAGAAAATATATAGCTTTGGACACGAGGAAGATCTAGAAAATTATCATTGAACATATTAATGGTTATTTCTTTTTCTTGGATTTCCAGAAAAGCCTCTTAATTTTATGCTTTCTCATCGAAGTAATGTACCCTTTTTTTCTGAAACTGAATTAAATACTCATTTTATCTTTGACTCTCCTTGAAATCTAGAGAAACCAAGAAAATGGCTGTTGGGAAGGAACCAATTTCCTCCTCTTCCCTCGGGTCTCAGGCATTTACATCCTCCCTCTCCCCGCAATCTGACCTTTACCAGGAGGGAAACAGTTCTCCTACATCTCATCATTGGAAAAGTTTTCAGGGAATCAGATAGAACTTAGCCAGAGATTTAAATATCACAGAAAAGCCTCAGAGAAGGAAGGAGAAAAAGAAAAGAAGTGACGCATGTAGAGTGCTTTTGGGTTATAGGCACCAAAATCCCATTAAGGACTGATTATAAGCTTCATGGTACAGTTCAGCAAATTATGATTCATTGAGGGGCACAGAGGACCAGTGTTGGTGACAGCTAGGGGATGATGACCTGAGGTTATAGGCTTGGGGTGAATGAAGCATAGAGTTTTTTTTTAAAAAAGAAGGGATTGTTGAAAACCTGGCAAAAATGTATAATTTAATGAGAAAACTTGCTGCTTTTAAAATCCATATAGGCCAGGCTTTAGCAGGCATGCTGTTTTGATAGTTTTTGGGAACTCTGGAATAAGAGACTTATCTCATCTGTCACTTCGAGTTGTTGGCCAGCCAGTTAAAGCTGTGGGTCGAAGAGGGGAAATGTTAACTGGCTGGTGTCAATTGGATAGGAAGACCTTAGTTAAGGTGGGGACCCGCTGTTTTAACAGTCTTCATTCAGGGTCCCAAATAGTATTTGGCTTTAAGTAATGATTGGTTTTCCCTTTTTACTAGAGGGGCCCTGGGAAGTCCTTGTACCTTTCCTCCATTTTAAACCAGCTGTTCTCTACTTTGTCCTTGGAATGAGGGACAAGTGATCATGACAGAACACTTTGTCATTGGGACTGGGAAAGGTTTGGCAAGGGCATTAAATTTAACAGCCAGTGCCAGGAAAATATAAAATGGGGTCAATGATAAACAGCTGTTAGAGGCTGGAAAATGGGTAGGGCAGTTGAATTTTTTGGTGGTTTCGTACCATTTGGGTGATTGAAGCATGGTAGTGGGTGGGTGGGGGGTGTGACAGAGCATCATGTTTGTTATTCTGCCTTAAATTTCTACTTACTGTCTTTTTCTTCTCTGTCTTCCAATCACTTTAATATCTTCAATTTTCAAACTATATTTGTACTTGGGCTTAGATAGAAAGTCTTACACAAGCATAGTATCTTCTACTTTGGTTTTCCCTACCTTTTCTTCCCCACCTTCTCCAAACACACATATACATACTCTACTCAATTCTATTTCTGATTTTGTAGTTGTTAGTTGTCCATGCTCAGGATAAAAAATGAGTGGGTAGGGTTGAGGGACTGGTTCTTTGAGGTTCTGCCCTTTTTCCATGATTCAGACCAACTTTCTCTTGGTCATTTCTGGAGTATAACTGACTCAATTCTTGTAAAAATGTGTTCCACCCAAACCACTGTATGTTCTTTTCCCTACTTTATTTTCTCCTACCTTCCTTCTCCTAATTGTGTTACAAGAGGCAGCCATAGCAAGAATGGAAAATCCAGATCAGTAAAAGATTCAACAAAAAAAAGTTTATTTTCCAAATTTGCTTTTACTCCCACCCCAAAATTTCCCTGTTTCACAGTTCTGACTGGGGGCTCTTGTTTATTTCACTGAGTCGCTATACGGGTTTTTCAGTGTGTGGCCACTTGGTCCATATGAAGTTCCAGGTTTGTATTTCTGGACCTCAGCTAGATTAGGCCCTGCCCAGAGTTCTAGCATACGTGGACTTCCAGGTGGGCTCTTAGGATTTGGCTGGTCTTTGGGGACCTGGAGTATGACCTGCAGAGGGGTGTGAGCTTTGGAGTTCATCTGGGGAATTGAGGTTGGCAGCTGGGGAGCTTGGAATTATGGTTGGACTTCGTGCTTGTTGTACAGTCTTTGTGATAGACTTCTTTCTGAGTTTCTTCTGACTGTCTGGATCATGGGGCTGTCAGTGATAAGAGTGGGAGAGATAGTCATGTCTCTGGTCAGGCCCGGATCATTCCTAATGCACCTCAGGATTCTAACTCCCTTTCTCCCCATACCATGGGCAGTAGATCAAGTTTCAAATAAGAAAAGTTAAATTTGATTTCTCTAACCACCCTCCCCCACCTTGAGATTAGATCATTTTCTACTGTTGGGGGTATGATGTCCTTAGCCCATCCCTTCAGGCCTCAGAAGGTGATTAAGGACTAGTCAAGATAAGACAAATTGGTTAGAGGTCCCCCATGCTGGGATAGTGGTGGCATAACAATAGACATTTTTTGAGGTTGAAAAGAAATTGAGACTACAGGGTTTTGGGTTAGATGGGAAGAATAGATACCTTGCCTAAGATTTCAGGACACAGCCCATTGGAGGCCTTGAGTAAATCAGGATTTTTCTGTATCCATTTGGTGAGGGAGGCAGCACCAGCAGTTGTACGGGAGGTCAGGGTCACCCGAGCAGGGGGTATCTTCAGAGGCATTTGCCAGGTGCCCATGAAGGAACCCCAAGGATTTGCCTAAAAATGAAAAGGGATTCCTCAGTAGGGCTTCTCACTCCCAGTAACTGACTTAGACCTCTGTATTATTTCCTTTCTTTACCTTTAGGAATGCATGGTTATGAAACAAGACTGAAAGCATAATCTTCCCACCCTTCCTTATCCCCCTCCCTCATTTAGGCTTTGCAGGCCTAATTTTTTCATCCCCTTTACTCTGCCAACTTAAATTCCACATCCTTAGGCCGAGTGTGGCAAAGGAGTACCCACTGCACAAATGTCATCACCTGAAGGCTTTCATTTATACAGATCATTGATCAATTTAAGAACTTCTGAAGGGTGCTAAACACAACTCTATCCTGCTGGGTAAGCTGGCCGGAAGTTCAGGGGCTCTCACATTACAACATGAATTAGATTAAACTTTAATTTTCCCGATAATGGCTGTGAGAGACTGCACATCTCCCAGTTCTGTGCCTTAATTATTTGACTTTCTTGATAGGAGTGAAGATAGTATCTCACCTTGGAACGGGGCACAGAAGGCAGTAGATGACCACGATCGTTGGCAATAATTTGAGTGTAGCCTTCATGAGAAGAGATGCTCTGGGGTACAAGTGGGAGAGATAAAGGTTTGTGAGGGGAAAAAGGGAAGTATTTGGGGAGCTTGGTCAGAGAAGGATATGGGAGTTTAGAGAATGCTAAAAGGAGTTAATTGACAGGGAGAGCATGAGGCTATCTTGTAGGTGCACTGAACATGGAATACCTCTTTTGTTGGCTTAGTGGGAGACCAGTTCTGCAGATACTTGGATGAGAAAGCCTTTTCATACTGTGGAGAGAAAGATAAGTAGCCCTATGAGACTTCAAGGCCCCAAACCCAGGAAATGAAGACTAGGCACAATTCTTTAGATTTGAAGACCAAAGGCCTGACCAACCATGTAGGCTTTAAGTCACTATGACAAGGGTGTAATTTGTTTGGTCTAGA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000551.4(VHL):c.232A>C (p.Asn78His)	VHL	Pathogenic	3	10183763	10183763	A	C	criteria provided, single submitter	-