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
Duplication	NM_000059.4(BRCA2):c.3502dup (p.Met1168fs)	BRCA2	Pathogenic	13	32911992	32911993	T	TA	reviewed by expert panel	ClinGen:CA10589207
single nucleotide variant	NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter)	BRCA2	Pathogenic	13	32912015	32912015	C	T	reviewed by expert panel	ClinGen:CA10589208
Deletion	NM_000059.4(BRCA2):c.3530_3533del (p.Asp1177fs)	BRCA2	Pathogenic	13	32912020	32912023	TAGAC	T	reviewed by expert panel	ClinGen:CA10589209
Deletion	NM_000059.4(BRCA2):c.3546del (p.Phe1182fs)	BRCA2	Pathogenic	13	32912036	32912036	AT	A	reviewed by expert panel	ClinGen:CA10589210
Deletion	NM_000059.4(BRCA2):c.3564_3567del (p.Lys1189fs)	BRCA2	Pathogenic	13	32912056	32912059	TTAAA	T	reviewed by expert panel	ClinGen:CA10589211
Deletion	NM_000059.4(BRCA2):c.3596_3599del (p.Asp1199fs)	BRCA2	Pathogenic	13	32912086	32912089	ATGAC	A	reviewed by expert panel	ClinGen:CA10589212
Deletion	NM_000059.4(BRCA2):c.3603del (p.Asn1201fs)	BRCA2	Pathogenic	13	32912095	32912095	AC	A	reviewed by expert panel	ClinGen:CA10589213
single nucleotide variant	NM_000059.4(BRCA2):c.3631G>T (p.Glu1211Ter)	BRCA2	Pathogenic	13	32912123	32912123	G	T	reviewed by expert panel	ClinGen:CA10589214
Deletion	NM_000059.4(BRCA2):c.3637del (p.Glu1213fs)	BRCA2	Pathogenic	13	32912129	32912129	TG	T	reviewed by expert panel	ClinGen:CA10589215
Deletion	NM_000059.4(BRCA2):c.3685_3686del (p.Val1229fs)	BRCA2	Pathogenic	13	32912176	32912177	ATG	A	reviewed by expert panel	ClinGen:CA10589216