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.3339_3341del (p.Tyr1113_Glu1114delinsTer)	BRCA1	Pathogenic	17	41244207	41244209	TTCA	T	reviewed by expert panel	ClinGen:CA10589764
Deletion	NM_007294.4(BRCA1):c.3331_3335del (p.Gln1111fs)	BRCA1	Pathogenic	17	41244213	41244217	TTCTTG	T	reviewed by expert panel	ClinGen:CA10589765
Deletion	NM_007294.4(BRCA1):c.3331del (p.Gln1111fs)	BRCA1	Pathogenic	17	41244217	41244217	TG	T	reviewed by expert panel	ClinGen:CA10589766
Insertion	NM_007294.4(BRCA1):c.3308_3309insC (p.Cys1103_Lys1104insTer)	BRCA1	Pathogenic	17	41244239	41244240	A	AG	reviewed by expert panel	ClinGen:CA10589767
Duplication	NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer)	BRCA1	Pathogenic	17	41244259	41244260	T	TTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCA	reviewed by expert panel	ClinGen:CA10589768
single nucleotide variant	NM_007294.4(BRCA1):c.3282T>G (p.Tyr1094Ter)	BRCA1	Pathogenic	17	41244266	41244266	A	C	reviewed by expert panel	ClinGen:CA10589769
Deletion	NM_007294.4(BRCA1):c.3262_3277del (p.Val1088fs)	BRCA1	Pathogenic	17	41244271	41244286	ACCTCAGGTTGCAAAAC	A	reviewed by expert panel	ClinGen:CA10589770
single nucleotide variant	NM_007294.4(BRCA1):c.3266T>A (p.Leu1089Ter)	BRCA1	Pathogenic	17	41244282	41244282	A	T	reviewed by expert panel	ClinGen:CA10589771
Deletion	NM_007294.4(BRCA1):c.3266del (p.Leu1089fs)	BRCA1	Pathogenic	17	41244282	41244282	CA	C	reviewed by expert panel	ClinGen:CA10589772
Deletion	NM_007294.4(BRCA1):c.3258del (p.Val1088fs)	BRCA1	Pathogenic	17	41244290	41244290	CT	C	reviewed by expert panel	ClinGen:CA10589773