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
Duplication	NM_007294.4(BRCA1):c.2490_2497dup (p.Leu833fs)	BRCA1	Pathogenic	17	41245050	41245051	A	AATGGATAC	reviewed by expert panel	ClinGen:CA10589845
Deletion	NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)	BRCA1	Pathogenic	17	41245056	41245059	ATACT	A	reviewed by expert panel	ClinGen:CA10589846
Indel	NM_007294.4(BRCA1):c.2477_2492delinsTG (p.Thr826fs)	BRCA1	Pathogenic	17	41245056	41245071	TACTTAAAGCCTTCTG	CA	reviewed by expert panel	ClinGen:CA10589847
Insertion	NM_007294.4(BRCA1):c.2487_2488insCCCCT (p.Lys830fs)	BRCA1	Pathogenic	17	41245060	41245061	T	TAGGGG	reviewed by expert panel	ClinGen:CA10589848
Deletion	NM_007294.4(BRCA1):c.2481del (p.Gly828fs)	BRCA1	Pathogenic	17	41245067	41245067	CT	C	reviewed by expert panel	ClinGen:CA10589849
Deletion	NM_007294.4(BRCA1):c.2473del (p.Asp825fs)	BRCA1	Pathogenic	17	41245075	41245075	TC	T	reviewed by expert panel	ClinGen:CA10589850
Insertion	NM_007294.4(BRCA1):c.2442_2443insT (p.Ile815fs)	BRCA1	Pathogenic	17	41245105	41245106	T	TA	reviewed by expert panel	ClinGen:CA10589851
Duplication	NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)	BRCA1	Pathogenic	17	41245118	41245119	G	GT	reviewed by expert panel	ClinGen:CA10589852
Duplication	NM_007294.4(BRCA1):c.2418dup (p.Ala807fs)	BRCA1	Pathogenic	17	41245129	41245130	C	CT	reviewed by expert panel	ClinGen:CA10589853
Deletion	NM_007294.4(BRCA1):c.2398_2411del (p.Lys800fs)	BRCA1	Pathogenic	17	41245137	41245150	CTGACTCACACATTT	C	reviewed by expert panel	ClinGen:CA10589854