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.3605dup (p.Tyr1202Ter)	BRCA1	Pathogenic	17	41243942	41243943	G	GT	reviewed by expert panel	ClinGen:CA10589734
Deletion	NM_007294.4(BRCA1):c.3604del (p.Tyr1202fs)	BRCA1	Pathogenic	17	41243944	41243944	TA	T	reviewed by expert panel	ClinGen:CA10589735
Deletion	NM_007294.4(BRCA1):c.3583_3590del (p.His1195fs)	BRCA1	Pathogenic	17	41243958	41243965	ATGTGTATG	A	reviewed by expert panel	ClinGen:CA10589736
Deletion	NM_007294.4(BRCA1):c.3582_3589del (p.His1195fs)	BRCA1	Pathogenic	17	41243959	41243966	TGTGTATGG	T	reviewed by expert panel	ClinGen:CA10589737
Duplication	NM_007294.4(BRCA1):c.3587dup (p.His1197fs)	BRCA1	Pathogenic	17	41243960	41243961	T	TG	reviewed by expert panel	ClinGen:CA10589738
Deletion	NM_007294.4(BRCA1):c.3571del (p.Ser1191fs)	BRCA1	Pathogenic	17	41243977	41243977	CT	C	reviewed by expert panel	ClinGen:CA10589739
Duplication	NM_007294.4(BRCA1):c.3564dup (p.Ser1189fs)	BRCA1	Pathogenic	17	41243983	41243984	T	TC	reviewed by expert panel	ClinGen:CA10589740
Deletion	NM_007294.4(BRCA1):c.3541_3542del (p.Val1181fs)	BRCA1	Pathogenic	17	41244006	41244007	GAC	G	reviewed by expert panel	ClinGen:CA10589741
Deletion	NM_007294.4(BRCA1):c.3534del (p.Ser1178fs)	BRCA1	Pathogenic	17	41244014	41244014	TG	T	reviewed by expert panel	ClinGen:CA10589742
Deletion	NM_007294.4(BRCA1):c.3512del (p.Lys1171fs)	BRCA1	Pathogenic	17	41244036	41244036	CT	C	reviewed by expert panel	ClinGen:CA10589743