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.9572G>A (p.Trp3191Ter)	BRCA2	Pathogenic	13	32971105	32971105	G	A	reviewed by expert panel	ClinGen:CA026216
single nucleotide variant	NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)	BRCA2	Pathogenic	13	32906576	32906576	C	T	reviewed by expert panel	ClinGen:CA026238
Deletion	NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)	BRCA2	Pathogenic	13	32972316	32972316	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9894&base_change=del T,ClinGen:CA026261
Deletion	NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs)	BRCA2	Pathogenic	13	32972325	32972325	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9904&base_change=del T,ClinGen:CA026265
single nucleotide variant	NM_000059.4(BRCA2):c.97G>T (p.Glu33Ter)	BRCA2	Pathogenic	13	32893243	32893243	G	T	reviewed by expert panel	ClinGen:CA026299
Deletion	NM_000059.4(BRCA2):c.9868del (p.Val3290fs)	BRCA2	Pathogenic	13	32972518	32972518	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):10096&base_change=del G,ClinGen:CA026317
single nucleotide variant	NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)	BRCA2	Pathogenic	13	32972533	32972533	C	T	reviewed by expert panel	ClinGen:CA026321
single nucleotide variant	NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)	BRCA2	Pathogenic	13	32972574	32972574	C	G	reviewed by expert panel	ClinGen:CA026332
Deletion	NM_000059.4(BRCA2):c.993_994del (p.Lys331fs)	BRCA2	Pathogenic	13	32906603	32906604	GAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1221&base_change=del AA,ClinGen:CA026339
Duplication	NM_000059.4(BRCA2):c.993_994dup (p.Ile332fs)	BRCA2	Pathogenic	13	32906602	32906603	G	GAA	reviewed by expert panel	ClinGen:CA026343