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.4672del (p.Asp1557_Leu1558insTer)	BRCA1	Pathogenic	17	41226351	41226351	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs)	BRCA1	Pathogenic	17	41223230	41223231	T	TCC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.4754dup (p.Glu1586fs)	BRCA1	Pathogenic	17	41223176	41223177	T	TG	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4782del (p.Ser1595fs)	BRCA1	Pathogenic	17	41223149	41223149	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.4942A>T (p.Lys1648Ter)	BRCA1	Pathogenic	17	41222989	41222989	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)	BRCA1	Likely pathogenic	17	41201184	41201184	C	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)	BRCA1	Likely pathogenic	17	41197769	41197770	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.5468_*1383del	BRCA1	Pathogenic	17	41196311	41197818	GGTGGAAGTGTTTGCTACCAAGTTTATTTGCAGTGTTAACAGCACAACATTTACAAAACGTATTTTGTACAATCAAGTCTTCACTGCCCTTGCACACTGGGGGGGCTAGGGAAGACCTAGTCCTTCCAACAGCTATAAACAGTCCTGGATAATGGGTTTATGAAAAACACTTTTTCTTCCTTCAGCAAGCAAAATTATTTATGAAGCTGTATGGTTTCAGCAACAGGGAGCAAAGGAAAAAAATCACCTCAAAGAAAGCAACAGCTTCCTTCCTGGTGGGATCTGTCATTTTATAGATATGAAATATTCATGCCAGAGGTCTTATATTTTAAGAGGAATGGATTATATACCAGAGCTACAACAATAAACATTTTACTTATTACTAATGAGGAATTAGAAGACTGTCTTTGGAAACCGGTTCTTGAAAATCTTCTGCTGTTTTAGAACACATTCTTTAGAAATCTAGCAAATATATCTCAGACTTTTAGAAATCTCTTCTAGTTTCATTTTCCTTTTTTTTTTTTTTTTTTTGAGCCACAGTCTCACTGTCACCCAGGCTGGAGTGCCGTGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGCTGAAGTGATTCTCCTGCCTTAGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTGAGGCCAAGCCACTCTGTGCTTCCAGCCCTAAGCCAACAACAGCCTGAATAGAAAGAATAGGGCTGATAAATAATGAATCAGCATCTTGCTCAATTGGTGGCGTTTAAATGGTTTTAAAATCTTCTCAGGTGAAAAATTACCATAATTTTGTGCTCATGGCAGATTTCCAAGGGAGACTTCAAGCAGAAAATCTTTAAGGGACCCTTGCATAGCCAGAAGTCCTTTTCAGGCTGATGTACATAAAATATTTAGTAGCCAGGACAGTAGAAGGACTGAAGAGTGAGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATT	G	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2295del (p.Ser766fs)	BRCA1	Pathogenic/Likely pathogenic	17	41245253	41245253	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2620_2621del (p.Asn874fs)	BRCA1	Likely pathogenic	17	41244927	41244928	ATT	A	criteria provided, single submitter	-