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
Deletion	NM_007294.4(BRCA1):c.3113_3114del (p.Glu1038fs)	BRCA1	Pathogenic	17	41244434	41244435	CTT	C	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.2402_2404delinsCATTTCCCCTATAGCAAAAACATGACGGCACTTACTGTATCAA (p.Cys801_Val802delinsSerPheProLeuTer)	BRCA1	Likely pathogenic	17	41245144	41245146	CAC	TTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATG	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2158_2159del (p.Glu720fs)	BRCA1	Pathogenic	17	41245389	41245390	TTC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.1910-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32910401	32910401	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.7806-1G>A	BRCA2	Pathogenic	13	32936659	32936659	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9649_10257del (p.Met3217_Ter3419del)	BRCA2	Pathogenic	13	32972299	32972907	GATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCAAGGAGTTGTGGCACCAAATACGAAACACCCATAAAGAAAAAAGAACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAATGAAATTTCTCTTTTGGAAAGTAATTCAATAGCTGACGAAGAACTTGCATTGATAAATACCCAAGCTCTTTTGTCTGGTTCAACAGGAGAAAAACAATTTATATCTGTCAGTGAATCCACTAGGACTGCTCCCACCAGTTCAGAAGATTATCTCAGACTGAAACGACGTTGTACTACATCTCTGATCAAAGAACAGGAGAGTTCCCAGGCCAGTACGGAAGAATGTGAGAAAAATAAGCAGGACACAATTACAACTAAAAAATATATCTAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)	BRCA2	Pathogenic	13	32913945	32913945	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3635del (p.Asn1212fs)	BRCA2	Pathogenic	13	32912124	32912124	GA	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.3(BRCA2):c.9064delinsGG (p.Arg3022fs)	BRCA2	Likely pathogenic	13	32953997	32953997	A	GG	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.3690dup (p.Phe1231fs)	BRCA1	Likely pathogenic	17	41243857	41243858	A	AT	criteria provided, single submitter	-