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.110C>G (p.Ser37Ter)	BRCA2	Pathogenic	13	32893256	32893256	C	G	reviewed by expert panel	ClinGen:CA10589010
single nucleotide variant	NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)	BRCA2	Pathogenic	13	32893272	32893272	T	A	reviewed by expert panel	ClinGen:CA10589011
Deletion	NM_000059.4(BRCA2):c.127_128del (p.Asn43fs)	BRCA2	Pathogenic	13	32893273	32893274	TAA	T	reviewed by expert panel	ClinGen:CA10589012
Duplication	NM_000059.4(BRCA2):c.201_202dup (p.Lys68fs)	BRCA2	Pathogenic	13	32893346	32893347	G	GGA	reviewed by expert panel	ClinGen:CA10589013
Duplication	NM_000059.4(BRCA2):c.212dup (p.Tyr71Ter)	BRCA2	Pathogenic	13	32893357	32893358	T	TA	reviewed by expert panel	ClinGen:CA10589014
Insertion	NM_000059.4(BRCA2):c.224_225insA (p.Ser76fs)	BRCA2	Pathogenic	13	32893370	32893371	C	CA	reviewed by expert panel	ClinGen:CA10589015
single nucleotide variant	NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter)	BRCA2	Pathogenic	13	32893393	32893393	G	T	reviewed by expert panel	ClinGen:CA10589016
Deletion	NM_000059.4(BRCA2):c.250del (p.Gln84fs)	BRCA2	Pathogenic	13	32893396	32893396	GC	G	reviewed by expert panel	ClinGen:CA10589018
Deletion	NM_000059.4(BRCA2):c.271_272del (p.Tyr91fs)	BRCA2	Pathogenic	13	32893417	32893418	GTA	G	reviewed by expert panel	ClinGen:CA10589019
Deletion	NM_000059.4(BRCA2):c.368_372del (p.Lys123fs)	BRCA2	Pathogenic	13	32899264	32899268	AAAATG	A	reviewed by expert panel	ClinGen:CA10589020