遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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.4534del (p.Ser1512fs)	BRCA1	Pathogenic/Likely pathogenic	17	41226489	41226489	CT	C	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	-
Deletion	NM_007294.4(BRCA1):c.2295del (p.Ser766fs)	BRCA1	Pathogenic/Likely pathogenic	17	41245253	41245253	TC	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.632-1dup	BRCA2	Likely pathogenic	13	32903578	32903579	A	AG	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.8488-1_8489delinsTCCATTACA	BRCA2	Likely pathogenic	13	32945092	32945094	GTG	TCCATTACA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.68-352_317-1637del	BRCA2	Pathogenic	13	32892842	32897556	TTGGGATTACAGGCGTGAGCCCCCGCACCTGGCCGAATTTTATCGTGGAATGTATTCTTAATGTGAATAGTTTTTGATTCCGAACCATGAATAATAAGAAAATAAATAAAATTTAAATGAAAATAAAAGCTAATATATACAGCTTTTAATAATATAGTTAAATGCCATCTTGTAACTTTTGTGAACTCTTGTTACACCTTTCTATAGATTCGCAAGAGAATGGATTAATGATCTTGTTTAATTAATATGCCTTAACAAAAGTAATCCATAGTCAAGATCTTAAGCATTTTTTTCCTTATGATCTTTAACTGTTCTGGGTCACAAATTTGTCTGTCACTGGTTAAAACTAAGGTGGGATTTTTTTTTTAAATAGATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGTAGACTGGGGAGAACTACAAACTAGGAATTTAGGCAAACCTGTGTTAAAATCTTAGCTCATTCATTAATTGTGTCATGCTGGGCAAATCAGTCTCTCTGGCCTCTTTTTCCTCACTCGAAAAATGGAGACGATGAAAATAATGTCTCATAGGTTTGGATTAAATTAAATAATGTAGGTACTTAGTAAATGTTCTCTTTCATCCCTCCTTTGATAAATTTGCCAACTGAGATTTGCTGAATTACGTCTTTCTTATGCCAAAAAAACCTAGGACTTGTTTTGATGTTAATTAAACTAAACTATATTTCTGCAAGCTATCACAGAGGACAGAGATTATTTTACCGATATACTATAAGTATCATGATTTGGAAGGAGTTTCCCTGGCGTAGGTGCCGCATGTTTCTAAGCAATTATGTAATAAGATTATATATTCAGTCATTCAAATAATTATTACCTACTTGACATAAGTAATGAACTTTCCCTTTTCTTCAGAGTGTTAATCTCTAGTAAGGGGAATAAAGAGTACACAGATAAAGTATAGTGTAAGGTTGAATGTAGTATGTGCTAAGAGAAAAATATAAAAAAGTATAATGAGAGTTGAGAAGAAAGAGCAAATAGTATTGGGCAAAGTTAGGCAATTATTCCTTTGAGCTAAACCTTGAAGGATAGGTGAGAGATTAAGAAATTTGAAGATGTGGTAGAGTGATAATGTTCTAGGCAGAGGGAACAACATGAGGAAGAATATGTAGTGTGTTCAGGAAATAGCAAGTAATTCAGGTTGGCTTTGGTTGTTTTGTGTCTGAAAGGGACCAATAGACAAGGCAAAAAGGCAGACTAAAGGCAGGCATTGAATGCCAAGCTAAAGAAATTGAATTTGTTTGGTTGGTTGGTGAGCAGAGAAATCACATGCAAATTTCATCATGCTACTTATTGTGTCAAACCTTAGATCACCTCCCTTTGTCCTTATAGCAAAATCTAAACTTGATATGGCTTTCAAGTTCCTTTGTGATCAGGCCCCTGATTTACACTCTTGGCTCAGCTTGCCATATTCATCCTCTCACCTATCTTCATTTGCCATTCATTCCTACTGAATTTCTTTTCGTTACCAAAACCACAATGCTCTCTGGCTCTTTATTAAACATATTGTTACCTCTACCCACAACCTACTTTTTCCCTACTTTTTGTCTAGCTAATTTGCGTGCTCGTCTTTCAGATCTTGGCTTATTTCTGCTTCTGAGAAATACTTCCTGTCTGCCCTCGTTGAGCTTCTAGTGAAGGAGACATACATAAGCAATTATAGTGTGATACATGCTTTGAAAGAAATTCATGGCTATAGGGAGTGCATATACAAAGGGAATATAGGTAATGGGCAAATATTTACATGTATGTTATTGGATACCAAATGGTATACATAGGATTCAGTAAATATTTGTAGAGTGAGTATTAGTATTATTTGCTTTAGAAAGCCTAATGATCAAACAGCAGTCTTTGGAGATAACGTTTTTCAAAATGTCATGTCTGTGCCATTAGAATCTTCTAGACTGCTCATTGAAAGGACAGATTCCAGGCCCCACTCTGAATCTCTTAATTTATAATTTTTGGAAATGATGCCCATGAGTCTACATTTTAAACTACCTGAATGATCCCTATAGAAAGAGAAAACTGGAGGTAGGAAGATCAGTTAGGGGATGTGTAATGGTCTAGGTGATAGAGACAAGTGCCTGAATTACAGTAATAACAGTGAAAGTAAATATGGAACATAAAACTATAGGACCTTGCAGTAGTCTAGATATGGAGGATTCAAAAAAAGGAACAAATGACAGGGCAAAGCATATGCAGAACACAGTAGTAACAGTCATAGAAATGGATAAGGGAGTCATCCATTCTGCAAATACTTAGTGCTTACTTGTGTCTGGCAACCTGCTCGGCATTAAGGATACAAATATGAATAAGATGTCCTTTGACCTCTAAGTACTCAGTCTCGTAAGCACGTCTTGTAAGCACATCTTGGTTGCTTCCATAAAAATAAATACACTAGTGTGATATGTTATAAGAGCATGTACCAAGTGCATGAAAAGTGAGCAGCCATCTCTGGTTGGTCAGAAAAAGCTCCATAAAGCAGTTTTTGCTGAATCTTGAAAGATATACCTAAGGTCAAATGGTTAATTCTTTAATCATAACCTGCTAGAATTGATCTATAACCAAGGAAGGATAGTAAGGAATTAATAAGGCCACTCTCAACTCACTGCAAAGGAGTTAACTTTTTGAAGGCTGTAATACATAAATCTGCTGACTAGTCTCTTGAGACCTTTTGCTTTTACGTTTACTTTAGATTCAGTATTGAAAAGTAAGAGTAATGGACTTAAGCTGTGTTTTTCAACCTGTTTTGTTCAGTTCTAACATGTAATATTTTTTAAAAAATTATTCCTAAAGTTCTATGAGGAATTGTGCTGTTTCTGCCTCTCAGCAGTCCTTCCTTTTGCATTAAATCATAGGCATTTCTGTTACCATTCTTCAGCTTATTAATGAGATCCTCAGGTTATTTGGGAAATGTTTATTTGGTAATTAACTCTTTTTCACCTAGTTCATTTTTTTAACTTTTTTTTTTAAATAGCCGAGTTTCTTTTCATTGCTGAACTAAAATGGATGTGTTATTATTAGCTGAACTCCTTAGTTTACTTTAGAGTTCACCCTTTGTATGGTTCTATGGATTTTGACAAATTGTATAATGTCGTATATCTGCCATTATGGCATTATACAGAATAATTTTGCTGCCCTAAAAATCTCCCGAGTTCCACCTGCTCACCCATCCCTCCTCCTGAGCCCCTGGCAGCCACTGATCTTTTTACTGTCTGTATAGTTTTGCCTTTTCCAGAATGTCATGTAGTTGGAATCATACAGAATATAGCATTTTCAGACTGGCTTCTTTCACTTAGCAATATGCCGAGACCAGCTCGATTGTAGAGACCCTAACCCAGCGGCACTAGAGGAATTAAAGGCACACAGAAATATAGCGGTGTGGAGTGGGAAATCAGGGGTCTCACAGCCTTTTGACAGCAAGCCAGTGATAAGCATTGTTTCTATAGATTATAGATTAACTGAAAGTATTCCTTAGGGGAAATAAAGGGCTGGGCCGAAGTAAAGGGATGGGTCTGGCTAGTTATCTGCAGCAGGAGAATGTCCTTAAGGCACAGGTCGCTCATGATAGTTTGTGGTTTAAGAACGCCTTTAAGCGGTTTTCTGCCCCGGGTGGGCCAGGTGTTCCTTGCCCTCATTCCGGTAAACCCACAAGCTTCCAGCGTGGGTGTCATGGCCATCACGAACATGTCACAGTGCTGCAGAGATTTTGTTTATGGCCAGTTTTGGGGCCAGTTCCCAACAGCAATATGTGTTTAAGGTTCTTCCATGTCTTTTAATGATTTCATGCTGAATAATATTCCATCGTATTGATGTACCACAGCTTGTTTATCCATTCATCTATTGAAGGACATCTTGATTGCTTCCAAATTTTGGCAATTATGAATAAAGCTGGTATAAATATTCACATACAGGTTTGTGTGTGAATATATTTTCAACTCATTTTGGTTCACACCAAAGAGCACGATTGTGGGATCATATAGTAAGAGTATGTTTAGTTTTATGAGAAACTACAAGCTTTCTTCCAAAGTAGCTGTTGCATTTTGTATTCCCACCAGCAGTGAATGAGAGTTCTTGTTGCTCACATCCTCACCAGCATTTGGTGTGTCAGTGTTTTGAATTCTAGCCATTCTAACAAGTGTGTAGTGGTACCTCATTGTTTGTTTTATTTAATTTTTTTTTTTTTTTTTTGGAGATGAAATCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACACCTGGCTGATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCTCGCCTCGGCCTCCCAAAGTGC	T	criteria provided, single submitter	-
Insertion	NM_000059.4(BRCA2):c.5727_5728insG (p.Asn1910fs)	BRCA2	Pathogenic	13	32914219	32914220	T	TG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4983_4986del (p.Pro1660_Tyr1661insTer)	BRCA2	Likely pathogenic	13	32913474	32913477	TATTC	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.194del (p.Pro65fs)	BRCA2	Pathogenic	13	32893339	32893339	TC	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.314del (p.Asp104_Leu105insTer)	BRCA2	Pathogenic	13	32893459	32893459	CT	C	criteria provided, multiple submitters, no conflicts	-