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.4987-5T>C	BRCA1	Pathogenic/Likely pathogenic	17	41219717	41219717	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602584
Deletion	NM_007294.4(BRCA1):c.4676-1420_4986+900del	BRCA1	Pathogenic	17	41222045	41224675	GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCA	G	criteria provided, single submitter	ClinGen:CA10602585
single nucleotide variant	NM_007294.4(BRCA1):c.4986+5G>C	BRCA1	Pathogenic/Likely pathogenic	17	41222940	41222940	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602586
Insertion	NM_007294.3(BRCA1):c.4986+1_4986+2ins65	BRCA1	Pathogenic	17	41222943	41222944	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.4676-1G>T	BRCA1	Pathogenic	17	41223256	41223256	C	A	criteria provided, single submitter	ClinGen:CA10592155
single nucleotide variant	NM_007294.4(BRCA1):c.4675+2T>C	BRCA1	Pathogenic	17	41226346	41226346	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10592159
single nucleotide variant	NM_007294.4(BRCA1):c.4675+2T>A	BRCA1	Pathogenic	17	41226346	41226346	A	T	criteria provided, single submitter	ClinGen:CA10592160
single nucleotide variant	NM_007294.4(BRCA1):c.4675+1G>C	BRCA1	Pathogenic	17	41226347	41226347	C	G	criteria provided, single submitter	ClinGen:CA10592161
Deletion	NM_007294.4(BRCA1):c.4674del (p.Glu1559fs)	BRCA1	Pathogenic	17	41226349	41226349	CT	C	reviewed by expert panel	ClinGen:CA10602587
single nucleotide variant	NM_007294.4(BRCA1):c.4485-1G>C	BRCA1	Pathogenic	17	41226539	41226539	C	G	criteria provided, single submitter	ClinGen:CA10592559