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	NM_001035511.2(SDHC):c.242-408_*4118del	SDHC	Pathogenic	1	161331710	161336447	TTTTTTTTTTTTGGCCCATACAATGGCTTTCAACATTCTGAGAGCAAGTGTTTGGAAGAATACACCTTGAGAAACATTAATCTAGATGTGTGGTCCTGAGGAAAAGTTGTATCTATTCATTCTGGAAGCTTTTGTATACCGTATGGGGCCTGTGGCATTCTAGAGAACATTCCTCCTACCATCACCACACAATAGAACCTGATTTTCTGTCATTGGAATAAGTGGATAATAGGTTCCATACTGTGGGTTTTGAGAAGGGTAAAGGTGGGGCATAAGGGTAGAAGCGCTTTTCTCTAGAATCATGCTGAGAGGAGATATCTATTCCTTTAGGTAGAATTACTTTCTGAGACAGGAACTGTTAATGTCCTATTTACTGAAATTCCTTTTTTTTTTTTTTGCTTTGTCCACAGATGTGGGACCTAGGAAAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTGTTGTCCTCTATGGGGCTGGCAGCCATGTGAAGAAAGGAGGCTCCCAGCATCATCTTCCTACACATTATTACATTCACCCATCTTTCTGTTTGTCATTCTTATCTCCAGCCTGGGAAAAGTTCTCCTTATTTGTTTAGATCCTTTTGTATTTTCAGATCTCCTTGGAGCAGTAGAGTACCTGGTAGACCATAATAGTGGAAAAGGGTCTAGTTTTCCCCTTGTTTCTAAAGATGAGGTGGCTGCAAAAACTCCCCTTTTTTGCCCACAGCTTGCCTACTCTCGGCCTAGAAGCAGTTATTCTCTCTCCATATTGGGCTTTGATTTGTGCTGAGGGTCAGCTTTTGGCTCCTTCTTCCTGAGACAGTGGAAACAATGCCAGCTCTGTGGCTTCTGCCCTGGGGATGGGCCGGGTTGGGGGGTGGGTTGGTGAGGCTTTGGGTGCCACTGCCTGTGGGTTGCTGGCTTAAAGGACAATTCTCTTCATTGGTGAGAGCCCAGGCCATTAACACCTACACAGTGTTATTGAAAGAAGAGAGGTGGGGGTGGAGGGGAATTAGTCTGTCCCAGCTAGAGGGAGATAAAGAGGGCTAGTTAGTTCTTGGAGCAGCTGCTTTTGAGGAGAAAATATATAGCTTTGGACACGAGGAAGATCTAGAAAATTATCATTGAACATATTAATGGTTATTTCTTTTTCTTGGATTTCCAGAAAAGCCTCTTAATTTTATGCTTTCTCATCGAAGTAATGTACCCTTTTTTTCTGAAACTGAATTAAATACTCATTTTATCTTTGACTCTCCTTGAAATCTAGAGAAACCAAGAAAATGGCTGTTGGGAAGGAACCAATTTCCTCCTCTTCCCTCGGGTCTCAGGCATTTACATCCTCCCTCTCCCCGCAATCTGACCTTTACCAGGAGGGAAACAGTTCTCCTACATCTCATCATTGGAAAAGTTTTCAGGGAATCAGATAGAACTTAGCCAGAGATTTAAATATCACAGAAAAGCCTCAGAGAAGGAAGGAGAAAAAGAAAAGAAGTGACGCATGTAGAGTGCTTTTGGGTTATAGGCACCAAAATCCCATTAAGGACTGATTATAAGCTTCATGGTACAGTTCAGCAAATTATGATTCATTGAGGGGCACAGAGGACCAGTGTTGGTGACAGCTAGGGGATGATGACCTGAGGTTATAGGCTTGGGGTGAATGAAGCATAGAGTTTTTTTTTAAAAAAGAAGGGATTGTTGAAAACCTGGCAAAAATGTATAATTTAATGAGAAAACTTGCTGCTTTTAAAATCCATATAGGCCAGGCTTTAGCAGGCATGCTGTTTTGATAGTTTTTGGGAACTCTGGAATAAGAGACTTATCTCATCTGTCACTTCGAGTTGTTGGCCAGCCAGTTAAAGCTGTGGGTCGAAGAGGGGAAATGTTAACTGGCTGGTGTCAATTGGATAGGAAGACCTTAGTTAAGGTGGGGACCCGCTGTTTTAACAGTCTTCATTCAGGGTCCCAAATAGTATTTGGCTTTAAGTAATGATTGGTTTTCCCTTTTTACTAGAGGGGCCCTGGGAAGTCCTTGTACCTTTCCTCCATTTTAAACCAGCTGTTCTCTACTTTGTCCTTGGAATGAGGGACAAGTGATCATGACAGAACACTTTGTCATTGGGACTGGGAAAGGTTTGGCAAGGGCATTAAATTTAACAGCCAGTGCCAGGAAAATATAAAATGGGGTCAATGATAAACAGCTGTTAGAGGCTGGAAAATGGGTAGGGCAGTTGAATTTTTTGGTGGTTTCGTACCATTTGGGTGATTGAAGCATGGTAGTGGGTGGGTGGGGGGTGTGACAGAGCATCATGTTTGTTATTCTGCCTTAAATTTCTACTTACTGTCTTTTTCTTCTCTGTCTTCCAATCACTTTAATATCTTCAATTTTCAAACTATATTTGTACTTGGGCTTAGATAGAAAGTCTTACACAAGCATAGTATCTTCTACTTTGGTTTTCCCTACCTTTTCTTCCCCACCTTCTCCAAACACACATATACATACTCTACTCAATTCTATTTCTGATTTTGTAGTTGTTAGTTGTCCATGCTCAGGATAAAAAATGAGTGGGTAGGGTTGAGGGACTGGTTCTTTGAGGTTCTGCCCTTTTTCCATGATTCAGACCAACTTTCTCTTGGTCATTTCTGGAGTATAACTGACTCAATTCTTGTAAAAATGTGTTCCACCCAAACCACTGTATGTTCTTTTCCCTACTTTATTTTCTCCTACCTTCCTTCTCCTAATTGTGTTACAAGAGGCAGCCATAGCAAGAATGGAAAATCCAGATCAGTAAAAGATTCAACAAAAAAAAGTTTATTTTCCAAATTTGCTTTTACTCCCACCCCAAAATTTCCCTGTTTCACAGTTCTGACTGGGGGCTCTTGTTTATTTCACTGAGTCGCTATACGGGTTTTTCAGTGTGTGGCCACTTGGTCCATATGAAGTTCCAGGTTTGTATTTCTGGACCTCAGCTAGATTAGGCCCTGCCCAGAGTTCTAGCATACGTGGACTTCCAGGTGGGCTCTTAGGATTTGGCTGGTCTTTGGGGACCTGGAGTATGACCTGCAGAGGGGTGTGAGCTTTGGAGTTCATCTGGGGAATTGAGGTTGGCAGCTGGGGAGCTTGGAATTATGGTTGGACTTCGTGCTTGTTGTACAGTCTTTGTGATAGACTTCTTTCTGAGTTTCTTCTGACTGTCTGGATCATGGGGCTGTCAGTGATAAGAGTGGGAGAGATAGTCATGTCTCTGGTCAGGCCCGGATCATTCCTAATGCACCTCAGGATTCTAACTCCCTTTCTCCCCATACCATGGGCAGTAGATCAAGTTTCAAATAAGAAAAGTTAAATTTGATTTCTCTAACCACCCTCCCCCACCTTGAGATTAGATCATTTTCTACTGTTGGGGGTATGATGTCCTTAGCCCATCCCTTCAGGCCTCAGAAGGTGATTAAGGACTAGTCAAGATAAGACAAATTGGTTAGAGGTCCCCCATGCTGGGATAGTGGTGGCATAACAATAGACATTTTTTGAGGTTGAAAAGAAATTGAGACTACAGGGTTTTGGGTTAGATGGGAAGAATAGATACCTTGCCTAAGATTTCAGGACACAGCCCATTGGAGGCCTTGAGTAAATCAGGATTTTTCTGTATCCATTTGGTGAGGGAGGCAGCACCAGCAGTTGTACGGGAGGTCAGGGTCACCCGAGCAGGGGGTATCTTCAGAGGCATTTGCCAGGTGCCCATGAAGGAACCCCAAGGATTTGCCTAAAAATGAAAAGGGATTCCTCAGTAGGGCTTCTCACTCCCAGTAACTGACTTAGACCTCTGTATTATTTCCTTTCTTTACCTTTAGGAATGCATGGTTATGAAACAAGACTGAAAGCATAATCTTCCCACCCTTCCTTATCCCCCTCCCTCATTTAGGCTTTGCAGGCCTAATTTTTTCATCCCCTTTACTCTGCCAACTTAAATTCCACATCCTTAGGCCGAGTGTGGCAAAGGAGTACCCACTGCACAAATGTCATCACCTGAAGGCTTTCATTTATACAGATCATTGATCAATTTAAGAACTTCTGAAGGGTGCTAAACACAACTCTATCCTGCTGGGTAAGCTGGCCGGAAGTTCAGGGGCTCTCACATTACAACATGAATTAGATTAAACTTTAATTTTCCCGATAATGGCTGTGAGAGACTGCACATCTCCCAGTTCTGTGCCTTAATTATTTGACTTTCTTGATAGGAGTGAAGATAGTATCTCACCTTGGAACGGGGCACAGAAGGCAGTAGATGACCACGATCGTTGGCAATAATTTGAGTGTAGCCTTCATGAGAAGAGATGCTCTGGGGTACAAGTGGGAGAGATAAAGGTTTGTGAGGGGAAAAAGGGAAGTATTTGGGGAGCTTGGTCAGAGAAGGATATGGGAGTTTAGAGAATGCTAAAAGGAGTTAATTGACAGGGAGAGCATGAGGCTATCTTGTAGGTGCACTGAACATGGAATACCTCTTTTGTTGGCTTAGTGGGAGACCAGTTCTGCAGATACTTGGATGAGAAAGCCTTTTCATACTGTGGAGAGAAAGATAAGTAGCCCTATGAGACTTCAAGGCCCCAAACCCAGGAAATGAAGACTAGGCACAATTCTTTAGATTTGAAGACCAAAGGCCTGACCAACCATGTAGGCTTTAAGTCACTATGACAAGGGTGTAATTTGTTTGGTCTAGA	T	criteria provided, single submitter	-
single nucleotide variant	NM_003001.5(SDHC):c.405+1G>C	SDHC	Pathogenic	1	161326631	161326631	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA343456782
single nucleotide variant	NM_003001.5(SDHC):c.405+1G>A	SDHC	Pathogenic	1	161326631	161326631	G	A	criteria provided, single submitter	ClinGen:CA011395,OMIM:602413.0004
single nucleotide variant	NM_003001.5(SDHC):c.405+1G>T	SDHC	Pathogenic	1	161326631	161326631	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011403,OMIM:602413.0002
Deletion	NM_003001.5(SDHC):c.405+1del	SDHC	Likely pathogenic	1	161326630	161326630	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)	SDHC	Pathogenic	1	161326622	161326622	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011426
single nucleotide variant	NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)	SDHC	Pathogenic/Likely pathogenic	1	161326612	161326612	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA31433613
single nucleotide variant	NM_003001.5(SDHC):c.380A>G (p.His127Arg)	SDHC	Pathogenic/Likely pathogenic	1	161326605	161326605	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011435
single nucleotide variant	NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)	SDHC	Pathogenic/Likely pathogenic	1	161326602	161326602	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA31433576
Duplication	NM_003001.5(SDHC):c.376dup (p.Tyr126fs)	SDHC	Pathogenic	1	161326600	161326601	G	GT	criteria provided, single submitter	ClinGen:CA10577666