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	NC_000016.10:g.(?_23603459)_(23626397_?)del	PALB2	Pathogenic	16	23614780	23637718	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43045678)_(43051117_?)del	BRCA1	Pathogenic	17	41197695	41203134	na	na	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.1385_4186-2276del	BRCA1	Pathogenic	17	41236868	41246163	ACCAAAATGCTTCACAGGCTGTATTAGTCACTACTGTCACAACCATCACATCTAACCTCTACGTGGCCATTACATAAATCAGAAAAAGTAGTGGGGTAATTATTAATAGATAACTTTCCTTTGGGTTTCCCAAAGGAATTATTTTTTATAACTTAGACAAATTCCCCAGCAGGTAAGTGGCCAAATACATTAGGGAGAATAAAACCAATAGGTTTCTAAGACTTCTTGATTCTAATTCTGAAGTGCTCCTTCAATTAGCTCTAGCCTTCTACTTCTACTATGCTGCTCTGATCTCTACTTTTAATACAGCTACATTACTGTAGAAGTTCCCTAAAAGCCTTGTTTATCATGTCTTTTTCTTCCATAAAGACCCTTAGTGCTCCATCCTGGCCATCACAGTGAAACACTGGCTGAGGCAGAAGAATCACTTGAACCCAGGTGGCGGAAGTGCAGTGAGCTGAGATCGTGCCACGGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAGAAAAGAAAAAAACCCTTAGTGGTATACCACTGCTGATTTATACTTTTTGAACACTATATAATTGTTAGTCATTACTGCCATTAGGATAAAATTCCTCAACATAGCATTCAAAAGGCCCTTTATACCCTGGTATTATCTCTCATTTCTCCCAACACCCCTCACACAAGTTGTTTTCCTATAACACATGACAACTTTACGTTTCCTGGGAATTCCATGACTCTGTACCTTTACCTTACTTGCTGCCACTCCTCTTTTTCCACTTGGAAAAATTCTCATCTTTCAAGGCCTAGTTTGAATGTCTCCTTAAGTCCCCACCAGGAGGAGTTGTGAAATATGAGAAGTAAGGGCAAGTGGGCAGAATGTGGCTAATTCTAATAAGACTCCTGAAATGTGCAGCAGAGCAGCCGGAACTGGTCTGGAGGGAAGCAGAGTGTATATCTGACCCTTGTTTGTTCACATTCATTACATATAAATATATATATAAAACCTTCCCATAAAACATGTGTATTTAATGAGTTAAAACTATTTCTAATGTTCCTACTACTACATAATAAGCCTAATCCAGATACAAGCTGAAGTCTTAGCACAAATAGTGGCTTTATCATGCTAGTTTTGTCGACATGTTGTGAATATTTTCAAATATACAGAAAACTTGAAGCAACTTTGCAATGAGTGTTTATATATCTACTACTTAGAATCTATAATTAACATTTCCTATATTTATTTTATCACATACATACACACACACACACACACACACACACACACACACACACAGAAGTCCCCACCAATAATCCATCTCCTATCGGGAACAGATGATCTCTCACTACTTGATTTACATTGCTAATGCATTAGTATACCCAAATGGAACACATGACCTTGATAGGAGGAAGCTTCCCTTAATCATATTTGTCTCCCTAATGCCTAGCAGACAGTAAGCACTCAGCAAGTGTTTATTAATGAGAAGATAAATTAATAAATAAGTATAGTTAATCAGTCTTCTGTAAAAACAAACAAAAACCCAGATATCAATGATACCAAATTAGGAATTCTCTATCATCTATATACTTTTTCTCGGTTCAGTACAAAAAGGGAAAAAAAAATCCCACTTCAATAGTTTTTCCTGCCTGTGCTACTTTAGACGTAAGACAGCCTGAAATCTGACTTCAACGGTTTTGGGTAGATGCTTAGTAAAAACACGTTGCAAAATGAATCCTGAACAAATAGACACATCTCTGGGAATAAGATTAGAAATACAGAAAAACAAGGACATTGTATATTGAATGTCAAATATAATACAGTATGGCTAAGGCAGATGTAATCAGAAATTGCAACCTTAAACTTTAAAACACAATGGACAGAATTAGATGATGGGTATATTGACAGAGTCCCAAACCCACATTCAAAAAGGATCATAGGAATTGCAAAGAGAGAAAAGGCCTCCTAAATCTTTTCATCAATTTAGTTGCCATGGCAATCCTGAAGAAGTGGAGAATACTGGTGACAGCTCAGATACAGAGTGGGGAGTCATCTCAAAGGTTTCTTGACAACTCCAAGGGGCTTCAGGTCTAGAGGGATTTGCTCTGTACAGAGAATGGGCAGTAGAAGATAAGCCTTCTCTAATTGTAGTTCTCATAGCAATGCAAGATTTAGATTTTAAAACTGGATATCACCCAGTGTTGGCAAGGTACAGGAAAATGGGAACTATCATATACCACAGGGGCTGGAAGAGCATAAACTGGTTTAATCTTTCTAAAAAACAATTTAGTAACATGTATCAAACACCAAAATCCTAGTCCCAGTAATTTAGACTAAGGAAATAATCAGGGATGTAGGCAAATATTTAGCTATCAGGATGCCACTATAGTGATGTACATAATAGCAAACTGTGCCTCTTACCCTGAAACCTCCAACATTCAGCAATAGGTCAAATAAATCATGATACACTGGAAAGATAGAATCCCATATAGTAATTAAAAATGAAGTCACTTAAGAATTTTAACGACCCAGGCTGAGTGCGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGTCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAGTTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCGGGAGGCAGAGGATGCGGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAAAGAAAAAAGAATTTTAATGATCCAGTAAAAGCTAGATTATAATGCACAGAATTATCTGGATTTCTTGTTTTTGAGACAGGGTCTCACCATATCACCCAGGATGGAGTGCAGTGGCACCATCATGGCTCACCACGGCCTCAACTTGCTGGGATCAAGCAATCCTACCCCAGCCACTCAAGTAGCTGAGACTACAGGTGTGCACCACTAAGCCTCACTAATTTTTTTTTTTTTCCCAGACAGGGGTTGCCCAGAACAGAGTGCAGTAGCGTGATCACAACTCACTGCAGCCTTGACCTCCGGGGCTCAGGCAATCTTCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCCTAGTAACCACTATTCTACCTTCCATCCTATGAATTTATCTTTTTTTTTTTTTTAACTGCTCCTTGTGGAGCAAGGCTTATCTATAGGCAATGTACCCAGAGTAACCAAATGTAACTATTCTAGGTATCTCATATAAGTGGAAGCATATAACATGTGTCCTTTGGTGTCCGGTTTATTTCAGTTAACACAATGTCTTCAAGGTTCGTCCATGGATGATTTTTGTTTATCTGTATTTTCTAAGTTTTCTATGATGCACATATATAACTTTATAAGAATATCAGGCTTTTCTCAACTTCATCTAATCTGACTTCAGAAAGTTCATAAAAAAACATCATTCACTTACTAGCAGCTAAAAGGGTATTTAAGATTTAGGTGGGAAAAAGAAGCCACAGCAGGATGAATCGAGGGGGTCTGAACAGCTTCATTTTAAGAATGTGCCTACGGCAGGTCAGAGAACATAAGCAAACTGTCTAAGATCACATAGCCCAGTACAGAACTCTCACCAATATTATTGCCAGCAACTGCTGTGTGTGTATTCTGCATAGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCAAAAAAAAAAATTAGGAGAAAGAGCCTGGTTCTATGATGAAGATGATATTCATTTTTAGACGTTGTGATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGTCAAAGAAACCAAAAAGAAAAAAATAACTAGATTTTAAAAGGGAAAAAAAAAAAGAAGAAGAGAAAGAAGTATCCACAAAACAGTGAAAGGCTAGATGGTCTCTATTAGGAAGAGAACCCTATAGTCTCCAACTTGGTACCAAGAATAAACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAGTTCCATCAAGGTGCTTACAGTCTAATTTAAGGAGACAATGAACCACAAACAATTGTGCCATTAATTCAAAGAGATGATGTCAGCAAACCTAAGAATGTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTCTTCATCATCTGAAACCAATTCCTTGTCACTCAGACCAACTCCCTGGCTTTCAGACTGATGCCTCATTTGTTTGGAAGAACCAATCAAGAAAGGATCCTGGGTGTTTGTATTTGCAGTCAAGTCTTCCAATTCACTGCACTGTGAAGAAAACAAGCTAGCAGAACATTTTGTTTCCTCACTAAGGTGATGTTCCTGAGATGCCTTTGCCAATATTACCTGGTTACTGCAGTCATTTAAGCTATTCTTCAATGATAATAAATTCTCCTCTGTGTTCTTAGACAGACACTCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTTGGAAGCAGGGAAGCTCTTCATCCTCACTAGATAAGTTCTCTTCTGAGGACTCTAATTTCTTGGCCCCTCTTCGGTAACCCTGAGCCAAATGTGTATGGGTGAAAGGGCTAGGACTCCTGCTAAGCTCTCCTTTCTGGACGCTTTTGCTAAAAACAGCAGAACTTTCCTTAATGTCATTTTCAGCAAAACTAGTATCTTCCTTTATTTCACCATCATCTAACAGGTCATCAGGTGTCTCAGAACAAACCTGAGATGCATGACTACTTCCCATAGGCTGTTCTAAGTTATCTGAAATCAGATATGGAGAGAAATCTGTATTAACAGTCTGAACTACTTCTTCATATTCTTGCTTTTTTATTTCAGGATGCTTACAATTACTTCCAGGAAGACTTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCATTCAATTTTGGCCCTCTGTTTCTACCTAGTTCTGCTTGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTACTGGAACCTACTTCATTAATATTGCTTGAGCTGGCTTCTTTAAAAACATTTTCTCTAATGTTATTACGGCTAATTGTGCTCACTGTACTTGGAATGTTCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTCTAGCAGATTTTTCTTACATTTAGTTTTAACAAATGACTTGATGGGAAAAAGTGGTGGTATACGATATGGGTTTTGTAAAAGTCCATGTTTATTTGGAGTAATGAGTCCAGTTTCGTTGCCTCTGAACTGAGATGATAGACAAAACCTAGAGCCTCCTTTGATACTACATTTGGCATTATCAACTGGCTTATCTTTCTGACCAACCACAGGAAAGCCTGCAGTGATATTAACTGTCTGTACAGGCTTGATATTAGACTCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTGAGTGCCATAATCAGTACCAGGTACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTGCAAAACCCTTTCTCCACTTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCTTTTACTTGTCTGTTCATTTGGCTTGTTACTCTTCTTGGCTCCAGTTGCAGGTTCTTTACCTTCCATGAGTTGTAGGTTTCTGCTGTGCCTGACTGGCATTTGGTTGTACTTTTTTTTCTTTATCTCTTCACTGCTAGAACAACTATCAATTTGCAATTCAGTACAATTAGGTGGGCTTAGATTTCTACTGACTACTAGTTCAAGCGCATGAATATGCCTGGTAGAAGACTTCCTCCTCAGCCTATTCTTTTTAGGTGCTTTTGAATTGTGGATATTTAATTCGAGTTCCATATTGCTTATACTGCTGCTTATAGGTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTTTCTCATTCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCC	A	criteria provided, single submitter	ClinGen:CA645369660
Deletion	NM_000077.5(CDKN2A):c.132del (p.Ser43_Tyr44insTer)	CDKN2A	Pathogenic	9	21974695	21974695	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369444
single nucleotide variant	NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)	CDKN2A	Likely pathogenic	9	21974760	21974760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086621
Duplication	NM_000077.5(CDKN2A):c.45dup (p.Leu16fs)	CDKN2A	Pathogenic	9	21974781	21974782	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369445
single nucleotide variant	NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)	CDKN2A	Pathogenic/Likely pathogenic	9	21974681	21974681	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086481
single nucleotide variant	NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg)	BRCA2	Pathogenic/Likely pathogenic	13	32936730	32936730	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA387747100
Deletion	Single allele	BRCA1	Pathogenic	17	41215969	41277341	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)	PALB2	Pathogenic	16	23647224	23647224	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395136539