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.8910G>A (p.Trp2970Ter)	BRCA2	Pathogenic	13	32953609	32953609	G	A	reviewed by expert panel	ClinGen:CA10589523
single nucleotide variant	NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter)	BRCA2	Pathogenic	13	32953614	32953614	T	A	reviewed by expert panel	ClinGen:CA10589524
Duplication	NM_000059.4(BRCA2):c.8919dup (p.Ile2974fs)	BRCA2	Pathogenic	13	32953617	32953618	G	GT	reviewed by expert panel	ClinGen:CA10589525
single nucleotide variant	NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter)	BRCA2	Pathogenic	13	32953630	32953630	T	A	reviewed by expert panel	ClinGen:CA10589526
single nucleotide variant	NM_000059.4(BRCA2):c.8938A>T (p.Lys2980Ter)	BRCA2	Pathogenic	13	32953637	32953637	A	T	reviewed by expert panel	ClinGen:CA10589527
single nucleotide variant	NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter)	BRCA2	Pathogenic	13	32953640	32953640	G	T	reviewed by expert panel	ClinGen:CA10589528
Deletion	NM_000059.4(BRCA2):c.8941_8942del (p.Glu2981fs)	BRCA2	Pathogenic	13	32953639	32953640	AAG	A	reviewed by expert panel	ClinGen:CA10589529
Deletion	NM_000059.4(BRCA2):c.8941del (p.Glu2981fs)	BRCA2	Pathogenic	13	32953640	32953640	AG	A	reviewed by expert panel	ClinGen:CA10589530
Duplication	NM_000059.4(BRCA2):c.8947dup (p.Asp2983fs)	BRCA2	Pathogenic	13	32953645	32953646	A	AG	reviewed by expert panel	ClinGen:CA10589531
single nucleotide variant	NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter)	BRCA2	Pathogenic	13	32953650	32953650	C	A	reviewed by expert panel	ClinGen:CA10589532