遺伝性乳がん・卵巣がん症候群 - MGenReviews

遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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_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
single nucleotide variant	NM_007294.4(BRCA1):c.5194-1G>C	BRCA1	Pathogenic	17	41209153	41209153	C	G	criteria provided, single submitter	ClinGen:CA10591149
single nucleotide variant	NM_007294.4(BRCA1):c.5193+2T>G	BRCA1	Pathogenic	17	41215348	41215348	A	C	criteria provided, single submitter	ClinGen:CA10591151
single nucleotide variant	NM_007294.4(BRCA1):c.5152+2T>A	BRCA1	Pathogenic	17	41215889	41215889	A	T	criteria provided, single submitter	ClinGen:CA10591240
Indel	NM_007294.4(BRCA1):c.5077_5080delinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln)	BRCA1	Pathogenic	17	41215963	41215966	CAGC	GCAGAATCAA	criteria provided, single submitter	ClinGen:CA10602579

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