遺伝性乳がん・卵巣がん症候群

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_007294.3:c.2954_2958delins3	BRCA1	Pathogenic	17	41244590	41244594	na	na	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.671-26_1781del	BRCA1	Pathogenic	17	41245767	41246903	CATATTGCTTATACTGCTGCTTATAGGTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTTTCTCATTCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCCCAAATATTTTGTCTTCAATATTACTCTCTACTGATTTGGAGTGAACTCTTTCACTTTTACATATTAAAGCCTCATGAGGATCACTGGCCAGTAAGTCTATTTTCTCTGAAGAACCAGAATATTCATCTACCTCATTTAGAACGTCCAATACATCAGCTACTTTGGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAGTTCATCACTTCTGGAAAACCACTCATTAACTTTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTCTCTGAGCATGGCAGTTTCTGCTTATTCCATTCTTTTCTCTCACACAGGGGATCAGCATTCAGATCTACCTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCCTTGCTAAGCCAGGCTGTTTGCTTTTATTACAGAATTCAGCCTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGT	C	criteria provided, single submitter	ClinGen:CA10602596
Indel	NM_007294.3:c.1642_1650delins2	BRCA1	Pathogenic	17	41245898	41245906	na	na	criteria provided, single submitter	-
Indel	NM_007294.3(BRCA1):c.1604_1612delGAACTAACCins13 (p.?)	BRCA1	Pathogenic	17	41245936	41245944	na	na	criteria provided, single submitter	-
Insertion	NM_007294.3(BRCA1):c.1393_1394ins10 (p.?)	BRCA1	Pathogenic	17	41246154	41246155	na	na	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.1251_1252delinsA (p.Asn417fs)	BRCA1	Pathogenic	17	41246296	41246297	CA	T	reviewed by expert panel	ClinGen:CA10602597
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