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.5332+2T>C	BRCA1	Pathogenic	17	41203078	41203078	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590890
single nucleotide variant	NM_007294.4(BRCA1):c.5332+1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41203079	41203079	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590891
single nucleotide variant	NM_007294.4(BRCA1):c.5297T>A (p.Ile1766Asn)	BRCA1	Pathogenic	17	41203115	41203115	A	T	criteria provided, single submitter	ClinGen:CA10590955
single nucleotide variant	NM_007294.4(BRCA1):c.5278-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41203136	41203136	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590992
Deletion	NM_007294.4(BRCA1):c.5194-452_5278-2297del	BRCA1	Pathogenic	17	41205431	41209604	AGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATGGAGACCATCCCGTCTAACACAGTGAAAACCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGTGGAGTGGAGCTGGTAGTGAGCCGAGACGGCGCCACTGCACTCCAGCCTGGGTGACATAGCGAGACTCTGTCTCAAAAAAAAAAAGAAATTTGAAGTTTCAGGCCGGGCGCGGTGGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGGGGTCGGGAGTTCAAGACCAGCGTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATCAGCTGGGCGTGGTGGCACATGCCTGTAATCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGATTGCGGTGAGCCAAGATCACGCCATTGTACTTCAGCCTGGGCAAGAAGAGCAAAGCTTCGTCTTAAAAAAAAAAAAAAAGAAATTTGAAGTTTCACCTCTACATATACATTTCTCTTCCAGAGAAAAATACTATGGTGACATTTAGTATTTTCAGAATGTCATTACTTTGACCACATACTTTCCATCATTGCTATTCTGCATGGAGGAAAAAATCCAAAGCACTAGAATTTCTTTTTAAAGAGGGGAAGAATCTGGTGCTAATACTGCCTAGCATACAGTGGAGGAAAAACAGAGGACTGGCTCACATGGCGCTCCCCTGTGGTAAAGGCAGAAGCAGAAATAAGGCCAGCAGCTTTTCTTGGCATCTGGAACAATTACTTGATAGGCTCAGAAGGTAAAAACAGGCTGACCTCAGCAGTTCAAAACTCCAGGCTTCATTTGTGATCATGTCCCAAAGCAGTTTTCCTTAGGAAATTACCTCTACTGGTTCCCTCTTAAGTTTCTATAAAGGGACAGAAAGTGCTCAGTAGAAGGATGTTTTGTTTTGTTTTGAGACAAGGTCTCACAATGTTGGCCAGGCTGGAGTGCAGTAGCACCATCATGGCTCACTGCAGCCTCGACCTCCCAGACTCAAGCATTCTTCTCACCTCAGCCTCCTGAGTAGCTGGGAATACAAGAGTGTGCTACGACACCCAATTAATTTTTAAATTTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGAAGTGAGCCGCTGTGCCCAGCTGGGATTTTTTTTTTTTTTTTGAGATGAAGTCTCCCTCTTGTCCCCAGGCTAGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAACCGATTCTCTAGCCTCAGCCTCCCGAGTAATCCTGAGCTAGGATTACAGGTGCCTACCACCACGCCCAGTTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGTGGATCACTGGAGGCCAGGAGATCAAGGCCAGCCTGGCCAACATGGCAAAACCCCATCTCTAATAAAAATATAAAAATTAAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGCCTGAGGCGGGCAGATGATCTGAGGTCTGGAATTTGAGACCAGCCTGGCCAACATGTTGAAACCTTGTTTCTATTAAAAATACAAAAAACTATCTCGGTGTGGTGGCACGTGCCTGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGGCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGGCCCGAAAAATAAATTAACAAAGAATTTAGACTTGGAGCTAGACTTCCTGAGTTCAACTTCTAGTTCCATCACTTATTACCTGTGTGACTTTGAGCAACTTATTCAACCTCTCTGAGCCTCAATTTTCACATCTGTAATATAGGCATAATTACAGTACATAGCTCATAGAGTTGTCATAAAATTGTTAATTAGTTAAAACATGGTTGGGCCTTTAGAGCAGTCCCAGCATAAAGTGATCTTTTTTTTTTTTTTTTCTTTTGAGATCTTCTGTCTGTCGTCTAGGCTGGAGTGCAGTGGCGCAATCTCCGTTCACTGTAGTCCCCTCTTCTTGGGCTCAAGAGATACTCTCAACTCAGCCTTCCGAGTAGCTGGAACTACAAGTACATGCCACCACGCCTGGCTAATTTTTGTATATTTTTTTTGGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTATCGAACTCCTTGGCTCAAGCGATCTGCCTGCCTCAGCTTCCCAAAGTGCTGGGATAACAGGAACGAGCCGCTGTGCCTGGCCCAGTGAACATTATATAAATTTTAGCTATTATTGGCTGGGCACGGTGGCTCACGCCTATCCCAGCACTTGGGGAGGCCAAGGCGGGAGGATCACAAGGTCAGGGGTTCAAGACCAGCCTGGGCAAGATGAGTTTTCAGTGAGCTGAGATCGCACCACTGCACTCTGGCCTGGGCAATGGAGTGAGACTCCGTCTTGGGAAAAAAAAAAAGAGAGAGAGAGAGCAAGAGAGAGAGAGAGAAAGACACCCCAGTGAAGTGAAAAGAGCAAAGTCTTTAGATTCTCATCTGCTTAAAGTCCCAGCTCTTCCACTTATCAGCTAAGATCTGAACCCGAGACGGGAATCCAAATTACACAGCCTCTCTAAATCTCTTAGTTTTATCATTCATAAAGTAGAGACAATACTTATTTATGTGGTTGGGATGGAAGAGTGAAAAAAGAACCTGTGTGAAAGTATCTAGCACTGTGTATGTATGTAATAAGTCTTACAAAATGAAGCGGCCCATCTCTGCAAAGGGGAGTGGAATACAGAGTGGTGGGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTTCCTTCAATGGAAGTGGAGCAGACACGTCATATTTAAGGCATTCAGGCCAGGCGCAGTGGCTCACCCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGTCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTTTTGAATGCAGGAGGTGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGTAACAGAGCGAGACTCCATCTCGCATCTCAAAAAATTAAAAATAAAATTAAAAAAAAAAAAATTAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAG	A	criteria provided, single submitter	ClinGen:CA10602575
Deletion	NM_007294.4(BRCA1):c.5193+340_5277+2206del	BRCA1	Pathogenic	17	41206863	41215010	CGATTCTCTAGCCTCAGCCTCCCGAGTAATCCTGAGCTAGGATTACAGGTGCCTACCACCACGCCCAGTTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATTGGAGGCCGGGTGCAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGTGGATCACTGGAGGCCAGGAGATCAAGGCCAGCCTGGCCAACATGGCAAAACCCCATCTCTAATAAAAATATAAAAATTAAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGCCTGAGGCGGGCAGATGATCTGAGGTCTGGAATTTGAGACCAGCCTGGCCAACATGTTGAAACCTTGTTTCTATTAAAAATACAAAAAACTATCTCGGTGTGGTGGCACGTGCCTGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGGCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGGCCCGAAAAATAAATTAACAAAGAATTTAGACTTGGAGCTAGACTTCCTGAGTTCAACTTCTAGTTCCATCACTTATTACCTGTGTGACTTTGAGCAACTTATTCAACCTCTCTGAGCCTCAATTTTCACATCTGTAATATAGGCATAATTACAGTACATAGCTCATAGAGTTGTCATAAAATTGTTAATTAGTTAAAACATGGTTGGGCCTTTAGAGCAGTCCCAGCATAAAGTGATCTTTTTTTTTTTTTTTTCTTTTGAGATCTTCTGTCTGTCGTCTAGGCTGGAGTGCAGTGGCGCAATCTCCGTTCACTGTAGTCCCCTCTTCTTGGGCTCAAGAGATACTCTCAACTCAGCCTTCCGAGTAGCTGGAACTACAAGTACATGCCACCACGCCTGGCTAATTTTTGTATATTTTTTTTGGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTATCGAACTCCTTGGCTCAAGCGATCTGCCTGCCTCAGCTTCCCAAAGTGCTGGGATAACAGGAACGAGCCGCTGTGCCTGGCCCAGTGAACATTATATAAATTTTAGCTATTATTGGCTGGGCACGGTGGCTCACGCCTATCCCAGCACTTGGGGAGGCCAAGGCGGGAGGATCACAAGGTCAGGGGTTCAAGACCAGCCTGGGCAAGATGAGTTTTCAGTGAGCTGAGATCGCACCACTGCACTCTGGCCTGGGCAATGGAGTGAGACTCCGTCTTGGGAAAAAAAAAAAGAGAGAGAGAGAGCAAGAGAGAGAGAGAGAAAGACACCCCAGTGAAGTGAAAAGAGCAAAGTCTTTAGATTCTCATCTGCTTAAAGTCCCAGCTCTTCCACTTATCAGCTAAGATCTGAACCCGAGACGGGAATCCAAATTACACAGCCTCTCTAAATCTCTTAGTTTTATCATTCATAAAGTAGAGACAATACTTATTTATGTGGTTGGGATGGAAGAGTGAAAAAAGAACCTGTGTGAAAGTATCTAGCACTGTGTATGTATGTAATAAGTCTTACAAAATGAAGCGGCCCATCTCTGCAAAGGGGAGTGGAATACAGAGTGGTGGGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTTCCTTCAATGGAAGTGGAGCAGACACGTCATATTTAAGGCATTCAGGCCAGGCGCAGTGGCTCACCCCTGTAATCCTAGCACTTTGGGAGACTGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGACACCAGTCTGACCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTTTTGAATGCAGGAGGTGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGTAACAGAGCGAGACTCCATCTCGCATCTCAAAAAATTAAAAATAAAATTAAAAAAAAAAAAATTAGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTTAAAATACAAAAAAATTAGCCGGGTGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAGATCACGCCACTGCACTCCAGCCTGGGCAACTGAGCGAGACTCCGTCTCAAAACAAACAAACAAACAAACAAAAAAACCAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCATGAGAATTGCTGGAATCCAGGAGGCAGAGGTTGCTGTGAGCCACGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAGGCATTCAGAATTGCCAGGCAGGCAGTAGCTGGGCACCAATGGCTCACACCTATAACCCTAGCACTTTGGCACTTTGGGAGGCTGAGGCAGGAGGACAGCTTGAGACCAGGAGCTGGAGACCCAGCTGGGCAACACAGTGAGACCCCTTCTCTAGAAAAAAGATACATAAAACCTCAGCCAGGCATAGTTGCATGTGCCTGCAGTCCCAATTTCTTGAAAAGCTGAAGCTGGAGGATCACTTGAGCCCAGGAGTTGGAGGCTGCAGTGAACTGTGATCATACCACCACACTCCCGCCTGGGTGACAAAGTGAGACTCTGCTAAAAAAAAACACACACACACACACACATAAAACAAAAAAAAGAAAGAAAGAAAAAGAATTGCTGGGCAGAGATTTGACCAAAAGCAAGTAAAATCATTCTTTTTGGTAGACCAGGTGAAATGACTAGGATCTCAGCTGTTGAAATCAATTCACTGAAGCAAATCTTTTGTGTGCAGAACTTAACAATCGGCTTTTCACCTCACTGGGACTTAATGTATTTTAATTTTCAACATCTATCTCCTCTCAAAACATTCACTTAGCATTTAGATTAGACTGCTAATACTGTGCTGTTATAAAGGTAACTGAAAAATTCCCTATCTCCTAAATCAATTGTATATTATCATCTAAGGAAATAAAGGCTTTTCAGATTTCCACTGAGAGATTTACAGTTAACACAACCAAAATGATAAAATATACATTCAATGCACTAAAGAAAGTTAGAGGTTTTTCATAATTACTATTATGACTGGTCATGGACATGAGAATAAAGAATAATGAGACTGGGGAGAAATTTGAGGAAGAACGCTCAGAAACAATTCTGACTGAAACTCAGATTGTAGGGAAGGCCTTATGTGTTGCCAAGAGTATTGTGAAGAAAACTAAAGGCAAGAGTATAACCACTGGCTATTACTAGGGGAAGAATATCTGACATTTCCTAGTTACTTGAATGAGGAGTCTAGTGATAAATTTGTCAGAAGACTCCCATGTTCATAGTCCTCCTTGTACCCCTGAGCTTCATACAATGTGTCCAACTGCCTACTTAACTTCTCTATCCAGAAGTCTAGTATACATCTCAAAATTCATGCATCTGGCCGGGCACAGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATTACCTGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAGTATTAGCCAGGCATTGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAAAATCACTTGAACCGGGAGGCGGAGGTTGGAGTGAGCTGAGATCGTGCTACCGCACTCCATGCACTCTAGCCTGGGCAACAGAACGAGATGCTGTCACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAATTCTCACATCTAAAACAGAGTTCCTGGTTCCATTCCTGCTTCCTGCCTTTCCCACTCCCCCATATTCCCTACCATGCCTTCTTCATCTAATTTAATATTACTAACAAGATCTATTGTTCAAGCCAAAACCCAAGTGTCACTCCTTCAATTTCTCTTTACCTTATCCTCCAAATTTAATCCATTAGCAAGTCCTCTCTTCAAACCCATCCCAAACCAACCTTGTTTTTAACCATCTCCACACCACCAATTACCACAAGGATAAAATCTGAATTCCTTACCACCAAATACTATGTGATCTGGCCCTCATCTATGACCTTCTCCCATTCCTTGTGTAATCTCTGCCTCCACACATAATTTGCAAATTACTCCAGCTACACTGGCCTATTATTATTATTATTATTATTTTTGAGACGGAGTCTTGCTCTTTCGCCCAGCCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGTGATTACAGGCACATGCCACCATTCCCAGCTAATTTTTTTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACCACAACCTCCACCTCCCGGGTTGATGAAGTGATTCTCTTGTCTCAGCCTCCCGTGTAGCTGGGATTAGAGGCACGCGCCACCACGCTGGGCAAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTACCTCAGTGATCTGTCCGCCTTGACCTCCCAAAGTGCTGGGATTACAGGAATGAGCCACCACACCCAGCCGTGCCCAGCTAATTTTTGCATTTTTTAGTAGAGATGGGGTTTTGCCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGGGATCTGCCTGCCTCGGCCTCCTAGAGTGCTGGAATTACAGGTGTGAGCCACTGTGCCCGAACCTTTTATCATTATTATTTCTTGAGACAGGAGTCTTGCTCTGTCGTTCAGGCTGGAGTGCAGTGATGCGATCTTGGCTCACTGTAACTCCTACCTTTCGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACTGGGATTACAGGCACACACCACCACACCATGCTAGTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATTTGCCTGCCTTGGCTTCCCAAAGTGCTGGGATTATAGGCACGAGCCACCACACACGACCAACATTGGCCTATCTTTTAAAAAATAAACCAAGCTCTGGCCGGGCACAGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGTTGAGGTGGTTGGATCACTTGAGTTCAGGAGTTTGAGACCAGCCTGACCAACGTGGTAAAACCCCATCTCTACTAAAAATAAAAACTAGTCGGGTGTGGTAGCACGCGTGCCTGTAATACCAGCTACTCAGGAGGCCAAGGCAGGAGAATTGCTTGAACCCAGGAGACAGAGTTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGGGATAGAGGGAGACACCATCTCAAAAAAACCAAAATACAGAAATCAAAAAACCACACTCATTATTACCTCAAGACCTTTATGTTTGCTATTCCTCTGCCTATAAGATGCATTCCCTTCATTTTTCAAGGACAATTATTTCTTGTTATTTAGGTCTCAGCTCAATTTTTTCAGAAAGGCTTTCCCTGGCCTCCTTAAACGAAAGTAATCAACAACCTTTGACAGCTAATACTATTCCACTGTTCTGTATATTTCTCCATAGCATTTATTGTTATCTTAAATTCATCTTTATTGTGTATCTCCCCTCGACAGAACCTGAATCCTACCAGGGACTTAGTTAGTCTTATTTACTGTTGCATTCCTAGTGCCCAGAACACAGTAGGCTCCCAATAAATAGCCACTGAATAAAAGTTAAAACCAACAAAAATAATCATTTAATTAATTATGAATACATCGAATTGTGCACAATAGTTTATAAAATTACTTTTTTTTTTTTTTTAAGACAGGGTCTCATTCTGTCTCACAGGCTGGAGTGCAGTGGTGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGCAGCTAGGATTACAGGCACATGCCACCACGCTCGACTAATTTTTTTGTGTTTTTAGTAGAGACAAGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCACTCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTATAAAATTACTTTCACATTTCATTTTGCCTGATCTGTTGTCACAGAAGTTCTCAGATGGCTGTTCTGAAATTATTCCTCCTCCTACACTCTATCTTATTTACTTCTCACTGTTCTCAGTATCATAAAGTGCAACATCTTTTTGAAGCAATCTGAATTATAAACAGATACATTTGCATGTATATATATGTATATATGCATATGCACACACACACTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTGCAAGTGCAAGAGTGCAATGGTATGATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATTCTTCTGGCTTAGCTTCCTCAGTAGCTAAGACTACAGAAGCACACTGCCATGCCCGGCTAATTAAAAAAAAATTTTGTGGAGACAGAGTCTCACTATGTTGCCCAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCTTCCTGTCTCAGCCTCCCAAAGGGCTGAGATTATAAGTGTGAGCCACTGCATCTGGACTGCATATTAATATGAAGAGCTTTTCTTCAACAACAGTGAACAGTTTTCTACAAAGGTATATGCAAGTGGGCCCACTTCTTGTTCTTATGAATCTTTTCTTTCCTTTTATAAAACTCCTTTTCCTTTCTCTTTTCCCCAAAGAAAGGACTGTTTCTTTTGAAATCTAGAACAAATGAGAACAGAGGATATCCTGGTTTGCGCTGCAAAATTTTTTTTTTTTTTAAGACGGAGTCTCGCTCTGTTGCCAGGTTGGAGTGCAGTGGCACGATCTTGGCTCATTGCAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTAAAGGCGCATGCCACCACGCTGAGTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAGGCAATCTGCCTGTCTTGGCCTCCCACAGTGTTAGGATTACAGGCATGAGCCACTGCACCCGATTTTTTTTTTCTTTTGATGGAGTTTTGCTCTTGTTGCCCAGGTTAGAGTGCAATGATGCGATCTCAGCTCACTGCAACCCCCGCCTCCCAGGTTCAAGT	C	criteria provided, single submitter	ClinGen:CA10602578
Indel	NM_007294.3(BRCA1):c.5194-1699_5277+1996delins236	BRCA1	Pathogenic	17	41207073	41210851	na	na	criteria provided, single submitter	-
Indel	NM_007294.3(BRCA1):c.5194-1730_5277+1996delins268	BRCA1	Pathogenic	17	41207073	41210882	na	na	criteria provided, single submitter	-
Indel	NM_007294.3(BRCA1):c.5277+833_5277+1671delins141	BRCA1	Pathogenic	17	41207398	41208236	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.5194-1G>T	BRCA1	Pathogenic	17	41209153	41209153	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591148