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
Indel	NM_007294.4(BRCA1):c.5194-1_5197delinsTATT	BRCA1	Pathogenic	17	41209149	41209153	CATGC	AATA	criteria provided, single submitter	ClinGen:CA658656666
Deletion	NM_007294.4(BRCA1):c.3825del (p.Leu1276fs)	BRCA1	Pathogenic	17	41243723	41243723	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656677
Insertion	NM_007294.4(BRCA1):c.3543_3544insGA (p.Gln1182fs)	BRCA1	Pathogenic	17	41244004	41244005	G	GTC	criteria provided, single submitter	ClinGen:CA658656689
Deletion	NM_007294.4(BRCA1):c.3401_3405del (p.Glu1134fs)	BRCA1	Pathogenic	17	41244143	41244147	GCTGTT	G	criteria provided, single submitter	ClinGen:CA658656692
Deletion	NM_007294.4(BRCA1):c.3117del (p.Ser1040fs)	BRCA1	Pathogenic	17	41244431	41244431	TG	T	criteria provided, single submitter	ClinGen:CA658656626
single nucleotide variant	NM_007294.4(BRCA1):c.547+1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41251791	41251791	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601039
Deletion	NM_007294.4(BRCA1):c.105_134+1007del	BRCA1	Pathogenic	17	41266736	41267772	TTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAG	T	criteria provided, single submitter	ClinGen:CA658656684
Deletion	NC_000017.11:g.(?_43057046)_(43057141_?)del	BRCA1	Pathogenic	17	41209063	41209158	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41209063)_(41209158_?)dup	BRCA1	Likely pathogenic	17	41209063	41209158	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43104116)_(43124102_?)del	BRCA1	Pathogenic	17	41256133	41276119	na	na	criteria provided, single submitter	-