家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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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_007294.4(BRCA1):c.81-1588_134+1725del	BRCA1	Pathogenic	17	41266018	41269384	AGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGAAACACCATCTCAAAAAAAAAAAAAGACAGGGTCTCACTCTGTCATCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCAGATGAAAATTATGGACTATCTTCCCAGAAAAATGTACATGGCCATAGTTTTGAATACAATTTAAATATAATTCTAGGAAATTCATAAAGACTATTCATAAACCCCAAGTTAAGAACTCTGGAATTTAAAAATTCCTCAAAGGATACATAAGAAATTGATCATTGTGGTTGTCTGGGGAGGGAACAGGGAGGCAGGGGTTGTAGGGTAAGAGGGAAGTATACTTTGCATCATATACCTTTTTGTGCTAATAAACTTTTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGACTAGCAGGGTAGGGGGGGAGAAAAAGAAAATAAATGAGGCTCAATAATTTATTTAAAAATAAAGCTATTCTTAGTGAATAAGTTCAACTTTGAGCTGTTATGACTGAGTCAACATAAGGCCTCAAGTTCGTTCAATATTTATTAAATGTCTGCTGTGTCAGGAACTGAGAATACAGCAGAGAATACGATCCTTACCTTCAGTGAGCTTTCAGATATCAAAACAGAATTATATTGATCCCTTCAATACTCTATACTATCATCAGCATTTAAAAGATTAGTTGATAATAGTTCGTACGAATTCATTTCCAGTGATATATTTTTCTGCACTATCACTGTGGGTGCACATCTCATCTTTAAGCTCCATAAAGACAAAATTTTCTGCTTATATTTCTTTTGAATTCCTTCCTAGAACTTTTTTTTGTTTACTGTAAATGCCTTTTTAACTTAATATGGAAAATTTCAAGTATTTCAAAATTTCAAGTAAATAAAATAATAAAATGAACTATATGGACCATCACCCTGGTCCAACAACCATCAACTCATGGCCAAGCTGTTTCACCCATATCCACCCCTACCCCAGATTATTTTAATTATTATTACTTTTAAGATAAGGTCACACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAAACATACCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCAGCACGGGGTTTACAGGCATGAGCCAACACACCCAAACCCAAGTGTCTTCTTTTTTTTGAGATGGGGTTTTGCTTTTGTAGCCCAGACTGGCATGCAATGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGTTGGAACTACAGGCGTGCGCCACCACGCCCGGCTGATTTTTCGTATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACTTTACAGATGGTACTGTGTACTCTTATTAGATCACTTCAGAAGAGGCATGATGTTTGGTTTGTGATTACTTTGTAAAAACAGTGTAATAAGTACTCACTAAAGGAAATTTAGAAAATGATAAGCTTAAGGCCGGGCATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGCTCAGGAGTTCCAGATCATCCTGGACAATATGGTGAAACCCTGTCTACGCTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTGGTCTCAGCTACTTTGGAGACTAAGGTAGAAGGATCACTTGAATCCT	A	criteria provided, single submitter	ClinGen:CA10602607
single nucleotide variant	NM_007294.4(BRCA1):c.134+1G>A	BRCA1	Pathogenic	17	41267742	41267742	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601889
single nucleotide variant	NM_007294.4(BRCA1):c.117T>G (p.Cys39Trp)	BRCA1	Pathogenic	17	41267760	41267760	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601925
Indel	NM_007294.3(BRCA1):c.-7620_80+468delins8	BRCA1	Pathogenic	17	41275566	41284888	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.80+2T>A	BRCA1	Pathogenic	17	41276032	41276032	A	T	criteria provided, single submitter	ClinGen:CA10601995
single nucleotide variant	NM_007294.4(BRCA1):c.3G>C (p.Met1Ile)	BRCA1	Pathogenic	17	41276111	41276111	C	G	criteria provided, single submitter	ClinGen:CA10602152
single nucleotide variant	NM_007294.4(BRCA1):c.-19-2A>G	BRCA1	Pathogenic	17	41276134	41276134	T	C	criteria provided, single submitter	ClinGen:CA10602608
Deletion	NM_007294.4(BRCA1):c.4987-577_5074+343del	BRCA1	Pathogenic	17	41219282	41220289	TTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCG	T	criteria provided, single submitter	ClinGen:CA10602610
single nucleotide variant	NM_007294.4(BRCA1):c.213-1G>T	BRCA1	Pathogenic	17	41256974	41256974	C	A	criteria provided, single submitter	ClinGen:CA10601740
Insertion	NM_007294.4(BRCA1):c.134+3_134+4insT	BRCA1	Pathogenic	17	41267739	41267740	T	TA	criteria provided, single submitter	ClinGen:CA10602611