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
Indel	NM_000059.3(BRCA2):c.5217_5218delinsA (p.Tyr1739_Leu1740delinsTer)	BRCA2	Pathogenic	13	32913709	32913710	TT	A	reviewed by expert panel	ClinGen:CA10589299
Deletion	NM_000059.4(BRCA2):c.5218_5224del (p.Leu1740fs)	BRCA2	Pathogenic	13	32913710	32913716	TTTAAGTA	T	reviewed by expert panel	ClinGen:CA10589300
Deletion	NM_000059.4(BRCA2):c.5218_5234del (p.Leu1740fs)	BRCA2	Pathogenic	13	32913708	32913724	TATTTAAGTAACAGTAGC	T	reviewed by expert panel	ClinGen:CA10589301
Deletion	NM_000059.4(BRCA2):c.5219del (p.Tyr1739_Leu1740insTer)	BRCA2	Pathogenic	13	32913709	32913709	AT	A	reviewed by expert panel	ClinGen:CA10589302
Duplication	NM_000059.4(BRCA2):c.5219dup (p.Leu1740fs)	BRCA2	Pathogenic	13	32913708	32913709	A	AT	reviewed by expert panel	ClinGen:CA10589303
single nucleotide variant	NM_000059.4(BRCA2):c.5263G>T (p.Glu1755Ter)	BRCA2	Pathogenic	13	32913755	32913755	G	T	reviewed by expert panel	ClinGen:CA10589304
Deletion	NM_000059.4(BRCA2):c.5270_5273del (p.Tyr1757fs)	BRCA2	Pathogenic	13	32913762	32913765	TATAA	T	reviewed by expert panel	ClinGen:CA10589305
Deletion	NM_000059.4(BRCA2):c.5298del (p.Asn1766fs)	BRCA2	Pathogenic	13	32913790	32913790	AT	A	reviewed by expert panel	ClinGen:CA10589306
Indel	NM_000059.3(BRCA2):c.5303_5311delinsA (p.Leu1768fs)	BRCA2	Pathogenic	13	32913795	32913803	TTGATTCTG	A	reviewed by expert panel	ClinGen:CA10589307
Indel	NM_000059.3(BRCA2):c.5329_5334delinsG (p.Lys1777fs)	BRCA2	Pathogenic	13	32913821	32913826	AAGAAT	G	reviewed by expert panel	ClinGen:CA10589308