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.1104del (p.Asp369fs)	BRCA1	Pathogenic	17	41246444	41246444	CT	C	reviewed by expert panel	ClinGen:CA10589967
Deletion	NM_007294.4(BRCA1):c.1054del (p.Glu352fs)	BRCA1	Pathogenic	17	41246494	41246494	TC	T	reviewed by expert panel	ClinGen:CA10589968
Deletion	NM_007294.4(BRCA1):c.1044_1047del (p.Leu347_Cys348insTer)	BRCA1	Pathogenic	17	41246501	41246504	TCTCA	T	reviewed by expert panel	ClinGen:CA10589970
Insertion	NM_007294.4(BRCA1):c.1044_1045insTCAC (p.Glu349fs)	BRCA1	Pathogenic	17	41246503	41246504	C	CGTGA	reviewed by expert panel	ClinGen:CA10589971
Insertion	NM_007294.4(BRCA1):c.1017_1018insA (p.Val340fs)	BRCA1	Pathogenic	17	41246530	41246531	C	CT	reviewed by expert panel	ClinGen:CA10589972
Insertion	NM_007294.4(BRCA1):c.1016_1017insC (p.Lys339fs)	BRCA1	Pathogenic	17	41246531	41246532	C	CG	reviewed by expert panel	ClinGen:CA10589973
Deletion	NM_007294.4(BRCA1):c.944_1007del (p.Arg315fs)	BRCA1	Pathogenic	17	41246541	41246604	TGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCC	T	reviewed by expert panel	ClinGen:CA10589974
Deletion	NM_007294.4(BRCA1):c.979del (p.Thr327fs)	BRCA1	Pathogenic	17	41246569	41246569	GT	G	reviewed by expert panel	ClinGen:CA10589975
Deletion	NM_007294.4(BRCA1):c.966del (p.Gly323fs)	BRCA1	Pathogenic	17	41246582	41246582	CA	C	reviewed by expert panel	ClinGen:CA10589976
single nucleotide variant	NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter)	BRCA1	Pathogenic	17	41246585	41246585	C	T	reviewed by expert panel	ClinGen:CA10589977