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
single nucleotide variant	NM_007294.4(BRCA1):c.4484+5G>C	BRCA1	Pathogenic	17	41228500	41228500	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602588
single nucleotide variant	NM_007294.4(BRCA1):c.4484+1G>T	BRCA1	Pathogenic	17	41228504	41228504	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10592565
Duplication	NM_007294.4(BRCA1):c.4186-1787_4358-1668dup	BRCA1	Pathogenic	17	41230298	41230299	T	TACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAAAAAAAAAAAAAAAGACCTTTGGACTGTAAAAAAAAAGAAAAGTCATTCTATCACCAGAACATTTAGCATATAAATTCCTCTTCTTACTACAATGGGCCTCATGCAATGAAGCAAATAAGATAACTTGTTAGAAGTTAACAACTCAATAGAACCTGAAAAACAGAGCAAAACCTTTCTGCTTTTTTTTCTCCTTAATCCTTAATTCATTCTCTGAACAGCAAGCCCAACCTAAGCCTTGTGACATGATGATCTACTTGCTGGCTGGTTTAGGAAAGTCTAAATGCAGAGATCCAGAGTCCAAGTTTCAGAATATTATTGTAGTTCCTCTTAAATCATTCCCTCATCTAGATGTCTTAACATGTTACATTCTTTGTGGATAGGAAGTATGGGCCACACCAAACATTTAATAAACTTACAGACTGCCCACTGTGTGCTAAGCATTGTACAGGGTATTGTGAAGAATTAAGGAAGACACTGGAAGACAACAGATATTAAGAAATAATAAACTAGGCCAGGCACCGTAGCTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTC	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.4186-1643_4357+2020del	BRCA1	Pathogenic	17	41232401	41236235	GATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAA	G	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):4305-1643&base_change=del 3835,ClinGen:CA10602590
Deletion	NM_007294.4(BRCA1):c.4186-832_4357+1955del	BRCA1	Pathogenic	17	41232466	41235424	TGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTC	T	criteria provided, single submitter	ClinGen:CA10602591
Deletion	NM_007294.4(BRCA1):c.4357+1_4357+10del	BRCA1	Pathogenic	17	41234411	41234420	ACAATACACAC	A	criteria provided, single submitter	ClinGen:CA10602592
Insertion	NM_007294.4(BRCA1):c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (p.Ser1428Ter)	BRCA1	Pathogenic	17	41234496	41234497	T	TGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTA	criteria provided, single submitter	ClinGen:CA10602593
Deletion	NM_007294.4(BRCA1):c.4097-78_4185+69del	BRCA1	Pathogenic	17	41242892	41243127	GTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCAT	G	criteria provided, single submitter	ClinGen:CA10602594
single nucleotide variant	NM_007294.4(BRCA1):c.4185+2T>C	BRCA1	Pathogenic	17	41242959	41242959	A	G	criteria provided, single submitter	ClinGen:CA10593353
Insertion	NM_007294.4(BRCA1):c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244delinsAspThrCysTyrLeuValLysTer)	BRCA1	Pathogenic	17	41243818	41243819	G	GCCTAGTAGACTGAGAAGGTATATTGTTTACTTTACCAAATAACAAGTGTC	criteria provided, single submitter	ClinGen:CA10602595