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.3990_3993del (p.Ser1330fs)	BRCA1	Pathogenic	17	41243555	41243558	CCTGG	C	reviewed by expert panel	ClinGen:CA10589705
Indel	NM_007294.4(BRCA1):c.3985_3987delinsTTTC (p.Glu1329fs)	BRCA1	Pathogenic	17	41243561	41243563	TTC	GAAA	reviewed by expert panel	ClinGen:CA10589706
Indel	NM_007294.4(BRCA1):c.3972_3974delinsAA (p.Met1324fs)	BRCA1	Pathogenic	17	41243574	41243576	CTC	TT	reviewed by expert panel	ClinGen:CA10589707
Deletion	NM_007294.4(BRCA1):c.3968_3971del (p.Gln1323fs)	BRCA1	Pathogenic	17	41243577	41243580	CATTT	C	reviewed by expert panel	ClinGen:CA10589708
Deletion	NM_007294.4(BRCA1):c.3961del (p.Ser1321fs)	BRCA1	Pathogenic	17	41243587	41243587	GA	G	reviewed by expert panel	ClinGen:CA10589709
Deletion	NM_007294.4(BRCA1):c.3959del (p.Ser1320fs)	BRCA1	Pathogenic	17	41243589	41243589	AG	A	reviewed by expert panel	ClinGen:CA10589710
Deletion	NM_007294.4(BRCA1):c.3952_3955del (p.Ile1318fs)	BRCA1	Pathogenic	17	41243593	41243596	CCAAT	C	reviewed by expert panel	ClinGen:CA10589711
Deletion	NM_007294.4(BRCA1):c.3947_3950del (p.Pro1315_Phe1316insTer)	BRCA1	Pathogenic	17	41243598	41243601	CAAGA	C	reviewed by expert panel	ClinGen:CA10589712
Duplication	NM_007294.4(BRCA1):c.3928dup (p.Thr1310fs)	BRCA1	Pathogenic	17	41243619	41243620	G	GT	reviewed by expert panel	ClinGen:CA10589713
Deletion	NM_007294.4(BRCA1):c.3917del (p.Asp1305_Leu1306insTer)	BRCA1	Pathogenic	17	41243631	41243631	CA	C	reviewed by expert panel	ClinGen:CA10589714