家族性膵がん - MGenReviews

家族性膵がん

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
Indel	NM_007294.3(BRCA1):c.3388_3408del21ins16 (p.?)	BRCA1	Pathogenic	17	41244140	41244160	na	na	criteria provided, single submitter	-
Insertion	NM_007294.3(BRCA1):c.3076_3077ins76 (p.?)	BRCA1	Pathogenic	17	41244471	41244472	na	na	criteria provided, single submitter	-
Insertion	NM_007294.3(BRCA1):c.3075_3076ins76 (p.?)	BRCA1	Pathogenic	17	41244472	41244473	na	na	criteria provided, single submitter	-
Insertion	NM_007294.3:c.3049_3050ins7	BRCA1	Pathogenic	17	41244498	41244499	na	na	criteria provided, single submitter	-
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