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.671-215_901del	BRCA1	Pathogenic/Likely pathogenic	17	41246647	41247092	TTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGTACTCAAAAACTGAATTGTCATTAAAAAAATACATACTTCATACACCTTGGAGGTGGAAATCAACCAACTGGCTATATTAGAGAAACTAACCTCATAAACTACCAAGTATACTGAAGATGTAGCTCATACTCTTTCATTTAATTCCTATTTACCTAGATTATTTCCACTTAGGATCCATTAAATTTTTAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602598
single nucleotide variant	NM_007294.4(BRCA1):c.671-2A>T	BRCA1	Pathogenic	17	41246879	41246879	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10600750
Deletion	NM_007294.4(BRCA1):c.640del (p.Asp214fs)	BRCA1	Pathogenic	17	41247893	41247893	TC	T	criteria provided, single submitter	ClinGen:CA10602600
Deletion	NM_007294.4(BRCA1):c.442-1129_547+223del	BRCA1	Pathogenic	17	41251569	41253026	GTGAGCCACCATGCCTGGCCTCTTTTGCTCCCTTTTTAAAGTAAGATTCTTCAAGGTGGGAACTGCGTCTTTTACATTTTTTATAACTCACCATAGGGCTCATAAAATTCACTTCCCAAAGCTGCCTACCACAAATACAAATTATGACCAAGATTTTTGGCAAAACTATAAGATAAGGAATCCAGCAATTATTATTAAATACTTAAAAAACCTGAGACCCTTACCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGTTCTGTGCTTTTCCTCCTGAAGAGAAACTTGACACCATGGACAAAATAAATTGACCATCATCAGTCAGCTAACATGTATGATGCCTGGAAAAAATGCCCAGGAATTTACACACTAAAATGTCTGGGGCTGGGAGCGGTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGGAGCAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCATAAGCAACAGAGTGAGACCCAGTCTCTACAAAATAATAGTAGTAGTAATAATAAAATGTGTGGGATATGTGTGATTTGAATTTTTTTTTCTGTTGTCTTAAATTTTTCAAACCTGATTATGTATTATTTGTGTAATTTTTGAAGTATTAATATAGCATATTTTGAAGCTGATACTTGATATACATTCCAATCACATCTGATAACTTTTTTTTTTGTTTTGGGGGGTGTACAGAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTAAGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGTCTACAAGCGTGTGCAACTATGCCTGGCTAATTTGTGTGTGTGTGTGTATATATATATACATATATATGTGTGTGTGTGTGTATATATATATATAACATATATATAACATATATATATTATATATATATAACATATATATAACATATATATATGTTATATATATATAACATATATATAACATATATATATATATATATATAATATATATATATATATATATATATGTAATCCCAGCACTTTGGGATATATGTGTATATATGTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCACACTGCAACCTCCACCTCCCTGGTTCAGTTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTACACCACCACGCCTAGTTAATTTTTGTATTTTTAGTAGAGACAGGTTTCGCCATGTTGGCCAGGCTGGTCTCACACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGC	G	criteria provided, single submitter	ClinGen:CA10602602
single nucleotide variant	NM_007294.4(BRCA1):c.547+3A>T	BRCA1	Pathogenic	17	41251789	41251789	T	A	criteria provided, single submitter	ClinGen:CA10602603
Duplication	NM_007294.4(BRCA1):c.442-952_547dup	BRCA1	Pathogenic	17	41251791	41251792	C	CCCAATTCAATGTAGACAGACGTCTTTTGAGGTTGTATCCGCTGCTTTGTCCTCAGAGTTCTCACAGTTCCAAGGTTAGAGAGTTGGACACTGAGACTGGTTTCCTGCTAAACAGTATGGTAAAGAACAGTCAAGCAATTGTTGGCCAGTTCTGTGCTTTTCCTCCTGAAGAGAAACTTGACACCATGGACAAAATAAATTGACCATCATCAGTCAGCTAACATGTATGATGCCTGGAAAAAATGCCCAGGAATTTACACACTAAAATGTCTGGGGCTGGGAGCGGTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGGAGCAGGACTGCTTGAGGCCAGGAGTTCAAGACCAGCATAAGCAACAGAGTGAGACCCAGTCTCTACAAAATAATAGTAGTAGTAATAATAAAATGTGTGGGATATGTGTGATTTGAATTTTTTTTTCTGTTGTCTTAAATTTTTCAAACCTGATTATGTATTATTTGTGTAATTTTTGAAGTATTAATATAGCATATTTTGAAGCTGATACTTGATATACATTCCAATCACATCTGATAACTTTTTTTTTTGTTTTGGGGGGTGTACAGAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTAAGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGTCTACAAGCGTGTGCAACTATGCCTGGCTAATTTGTGTGTGTGTGTGTATATATATATACATATATATGTGTGTGTGTGTGTATATATATATATAACATATATATAACATATATATATTATATATATATAACATATATATAACATATATATATGTTATATATATATAACATATATATAACATATATATATATATATATATAATATATATATATATATATATATATGTAATCCCAGCACTTTGGGATATATGTGTATATATGTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCACACTGCAACCTCCACCTCCCTGGTTCAG	criteria provided, single submitter	ClinGen:CA10602604
single nucleotide variant	NM_007294.4(BRCA1):c.442-7T>A	BRCA1	Pathogenic	17	41251904	41251904	A	T	criteria provided, single submitter	ClinGen:CA10602605
Insertion	NM_007294.3(BRCA1):c.438_439ins25 (p.?)	BRCA1	Pathogenic	17	41256141	41256142	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr)	BRCA1	Pathogenic	17	41258473	41258473	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601745
single nucleotide variant	NM_007294.4(BRCA1):c.139T>A (p.Cys47Ser)	BRCA1	Pathogenic	17	41258546	41258546	A	T	criteria provided, single submitter	ClinGen:CA10601876