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_000059.4(BRCA2):c.5125_5129del (p.Asp1709fs)	BRCA2	Pathogenic	13	32913616	32913620	CAGATT	C	reviewed by expert panel	ClinGen:CA10589289
Deletion	NM_000059.4(BRCA2):c.5149del (p.Glu1717fs)	BRCA2	Pathogenic	13	32913641	32913641	TG	T	reviewed by expert panel	ClinGen:CA10589290
Deletion	NM_000059.4(BRCA2):c.5154_5158del (p.Asn1719fs)	BRCA2	Pathogenic	13	32913646	32913650	ATAATT	A	reviewed by expert panel	ClinGen:CA10589291
Deletion	NM_000059.4(BRCA2):c.5157_5160del (p.Asn1719fs)	BRCA2	Pathogenic	13	32913648	32913651	AATTC	A	reviewed by expert panel	ClinGen:CA10589292
Indel	NM_000059.3(BRCA2):c.5160_5168delinsTACAA (p.Asn1721fs)	BRCA2	Pathogenic	13	32913652	32913660	AAACAGTAC	TACAA	reviewed by expert panel	ClinGen:CA10589293
Duplication	NM_000059.4(BRCA2):c.5198_5199dup (p.Glu1734fs)	BRCA2	Pathogenic	13	32913689	32913690	T	TCC	reviewed by expert panel	ClinGen:CA10589294
Deletion	NM_000059.4(BRCA2):c.5205_5208del (p.Gln1736fs)	BRCA2	Pathogenic	13	32913695	32913698	AAAAC	A	reviewed by expert panel	ClinGen:CA10589295
Deletion	NM_000059.4(BRCA2):c.5205del (p.Lys1735fs)	BRCA2	Pathogenic	13	32913693	32913693	GA	G	reviewed by expert panel	ClinGen:CA10589296
Deletion	NM_000059.4(BRCA2):c.5213del (p.Thr1738fs)	BRCA2	Pathogenic	13	32913705	32913705	AC	A	reviewed by expert panel	ClinGen:CA10589297
Duplication	NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)	BRCA2	Pathogenic	13	32913707	32913708	T	TA	reviewed by expert panel	ClinGen:CA10589298