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.5580_5583del (p.Lys1860_Lys1861insTer)	BRCA2	Pathogenic	13	32914070	32914073	TAAAA	T	reviewed by expert panel	ClinGen:CA10589319
Deletion	NM_000059.4(BRCA2):c.5590_5591del (p.Asp1864fs)	BRCA2	Pathogenic	13	32914081	32914082	AAG	A	reviewed by expert panel	ClinGen:CA10589320
Duplication	NM_000059.4(BRCA2):c.5609dup (p.Ser1871fs)	BRCA2	Pathogenic	13	32914098	32914099	G	GT	reviewed by expert panel	ClinGen:CA10589321
single nucleotide variant	NM_000059.4(BRCA2):c.5623A>T (p.Lys1875Ter)	BRCA2	Pathogenic	13	32914115	32914115	A	T	reviewed by expert panel	ClinGen:CA10589322
Insertion	NM_000059.4(BRCA2):c.5651_5652insA (p.Cys1885fs)	BRCA2	Pathogenic	13	32914143	32914144	T	TA	reviewed by expert panel	ClinGen:CA10589323
Duplication	NM_000059.4(BRCA2):c.5653dup (p.Cys1885fs)	BRCA2	Pathogenic	13	32914142	32914143	A	AT	reviewed by expert panel	ClinGen:CA10589324
Insertion	NM_000059.4(BRCA2):c.5677_5678insA (p.Cys1893Ter)	BRCA2	Pathogenic	13	32914169	32914170	T	TA	reviewed by expert panel	ClinGen:CA10589325
Deletion	NM_000059.4(BRCA2):c.5701_5714del (p.Ser1900_Glu1901insTer)	BRCA2	Pathogenic	13	32914189	32914202	ATTCAGAGGATATTC	A	reviewed by expert panel	ClinGen:CA10589326
Deletion	NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs)	BRCA2	Pathogenic	13	32914215	32914216	CTA	C	reviewed by expert panel	ClinGen:CA10589327
single nucleotide variant	NM_000059.4(BRCA2):c.5750C>A (p.Ser1917Ter)	BRCA2	Pathogenic	13	32914242	32914242	C	A	reviewed by expert panel	ClinGen:CA10589328