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
single nucleotide variant	NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter)	BRCA1	Pathogenic	17	41219700	41219700	T	A	reviewed by expert panel	ClinGen:CA003149
Deletion	NM_007294.4(BRCA1):c.5005del (p.Ala1669fs)	BRCA1	Pathogenic	17	41219694	41219694	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5124&base_change=del G,ClinGen:CA003151
Deletion	NM_007294.4(BRCA1):c.5026_5036del (p.Leu1676fs)	BRCA1	Pathogenic	17	41219663	41219673	TAGATTAGTTAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5145&base_change=del TTAACTAATCT,ClinGen:CA003157
Duplication	NM_007294.4(BRCA1):c.5027dup (p.Leu1676fs)	BRCA1	Pathogenic	17	41219671	41219672	T	TA	reviewed by expert panel	ClinGen:CA327956
Deletion	NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)	BRCA1	Pathogenic	17	41219664	41219664	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5154&base_change=del C,ClinGen:CA003166
Deletion	NM_007294.4(BRCA1):c.5040del (p.Thr1681fs)	BRCA1	Pathogenic	17	41219659	41219659	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5159&base_change=del T,ClinGen:CA003168
single nucleotide variant	NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter)	BRCA1	Pathogenic	17	41219652	41219652	C	A	reviewed by expert panel	ClinGen:CA003173
single nucleotide variant	NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala)	BRCA1	Pathogenic	17	41219646	41219646	T	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00042,ClinGen:CA003174,UniProtKB:P38398#VAR_063902
single nucleotide variant	NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile)	BRCA1	Pathogenic	17	41219645	41219645	G	A	reviewed by expert panel	BRCA1-HCI:BRCA1_00050,ClinGen:CA003175,UniProtKB:P38398#VAR_063903
single nucleotide variant	NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)	BRCA1	Pathogenic	17	41219641	41219641	A	T	criteria provided, single submitter	ClinGen:CA003178,UniProtKB:P38398#VAR_070497