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.370_374del (p.Met124fs)	BRCA2	Pathogenic	13	32899265	32899269	AAATGG	A	reviewed by expert panel	ClinGen:CA10589021
Duplication	NM_000059.4(BRCA2):c.428dup (p.Val144fs)	BRCA2	Pathogenic	13	32900238	32900239	T	TC	reviewed by expert panel	ClinGen:CA10589022
Deletion	NM_000059.4(BRCA2):c.433_437del (p.Val145fs)	BRCA2	Pathogenic	13	32900244	32900248	TTGTTC	T	reviewed by expert panel	ClinGen:CA10589023
Deletion	NM_000059.4(BRCA2):c.441del (p.Gln147fs)	BRCA2	Pathogenic	13	32900252	32900252	CA	C	reviewed by expert panel	ClinGen:CA10589024
Insertion	NM_000059.4(BRCA2):c.469_470insT (p.Lys157fs)	BRCA2	Pathogenic	13	32900281	32900282	A	AT	reviewed by expert panel	ClinGen:CA10589026
Deletion	NM_000059.4(BRCA2):c.470del (p.Lys157fs)	BRCA2	Pathogenic	13	32900281	32900281	TA	T	reviewed by expert panel	ClinGen:CA10589027
Duplication	NM_000059.4(BRCA2):c.470dup (p.Ser158fs)	BRCA2	Pathogenic	13	32900280	32900281	T	TA	reviewed by expert panel	ClinGen:CA10589028
Insertion	NM_000059.4(BRCA2):c.471_472insA (p.Ser158fs)	BRCA2	Pathogenic	13	32900283	32900284	G	GA	reviewed by expert panel	ClinGen:CA10589029
single nucleotide variant	NM_000059.4(BRCA2):c.473C>A (p.Ser158Ter)	BRCA2	Pathogenic	13	32900285	32900285	C	A	reviewed by expert panel	ClinGen:CA10589030
Deletion	NM_000059.4(BRCA2):c.506del (p.Lys169fs)	BRCA2	Pathogenic	13	32900407	32900407	CA	C	reviewed by expert panel	ClinGen:CA10589031