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
single nucleotide variant	NM_000059.4(BRCA2):c.1286T>G (p.Leu429Ter)	BRCA2	Pathogenic	13	32906901	32906901	T	G	reviewed by expert panel	ClinGen:CA10589083
Duplication	NM_000059.4(BRCA2):c.1287dup (p.Asp430fs)	BRCA2	Pathogenic	13	32906901	32906902	T	TA	reviewed by expert panel	ClinGen:CA10589084
Duplication	NM_000059.4(BRCA2):c.1298dup (p.Asn433fs)	BRCA2	Pathogenic	13	32906911	32906912	G	GA	reviewed by expert panel	ClinGen:CA10589085
Deletion	NM_000059.4(BRCA2):c.1317del (p.Thr441fs)	BRCA2	Pathogenic	13	32906929	32906929	AT	A	reviewed by expert panel	ClinGen:CA10589086
Duplication	NM_000059.4(BRCA2):c.1318_1319dup (p.Thr441fs)	BRCA2	Pathogenic	13	32906931	32906932	T	TTC	reviewed by expert panel	ClinGen:CA10589087
Deletion	NM_000059.4(BRCA2):c.1334del (p.Ser445fs)	BRCA2	Pathogenic	13	32906949	32906949	TC	T	reviewed by expert panel	ClinGen:CA10589088
single nucleotide variant	NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter)	BRCA2	Pathogenic	13	32906991	32906991	T	G	reviewed by expert panel	ClinGen:CA10589090
Deletion	NM_000059.4(BRCA2):c.1376del (p.Pro458_Leu459insTer)	BRCA2	Pathogenic	13	32906990	32906990	AT	A	reviewed by expert panel	ClinGen:CA10589091
Deletion	NM_000059.4(BRCA2):c.1404_1413del (p.Arg468fs)	BRCA2	Pathogenic	13	32907014	32907023	TAAGAGAGATG	T	reviewed by expert panel	ClinGen:CA10589092
Deletion	NM_000059.4(BRCA2):c.1433_1434del (p.Thr478fs)	BRCA2	Pathogenic	13	32907047	32907048	TAC	T	reviewed by expert panel	ClinGen:CA10589093