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.2703del (p.Ala902fs)	BRCA2	Pathogenic	13	32911194	32911194	CT	C	reviewed by expert panel	ClinGen:CA10589167
Deletion	NM_000059.4(BRCA2):c.2745_2746del (p.Val917fs)	BRCA2	Pathogenic	13	32911237	32911238	CTT	C	reviewed by expert panel	ClinGen:CA10589168
Deletion	NM_000059.4(BRCA2):c.2748del (p.Cys916fs)	BRCA2	Pathogenic	13	32911240	32911240	GT	G	reviewed by expert panel	ClinGen:CA10589169
Deletion	NM_000059.4(BRCA2):c.2753del (p.Asn918fs)	BRCA2	Pathogenic	13	32911243	32911243	TA	T	reviewed by expert panel	ClinGen:CA10589170
Insertion	NM_000059.4(BRCA2):c.2758_2759insATGG (p.Pro920fs)	BRCA2	Pathogenic	13	32911250	32911251	C	CATGG	reviewed by expert panel	ClinGen:CA10589171
Deletion	NM_000059.4(BRCA2):c.2764_2777del (p.Phe922fs)	BRCA2	Pathogenic	13	32911256	32911269	TTTCAAGAACTCTAC	T	reviewed by expert panel	ClinGen:CA10589172
Duplication	NM_000059.4(BRCA2):c.2775dup (p.Thr926fs)	BRCA2	Pathogenic	13	32911266	32911267	C	CT	reviewed by expert panel	ClinGen:CA10589173
Deletion	NM_000059.4(BRCA2):c.2781_2785del (p.Met927fs)	BRCA2	Pathogenic	13	32911272	32911276	ATGGTT	A	reviewed by expert panel	ClinGen:CA10589174
single nucleotide variant	NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter)	BRCA2	Pathogenic	13	32911339	32911339	T	A	reviewed by expert panel	ClinGen:CA10589175
Deletion	NM_000059.4(BRCA2):c.2858del (p.Glu953fs)	BRCA2	Pathogenic	13	32911350	32911350	GA	G	reviewed by expert panel	ClinGen:CA10589176