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.4625del (p.Val1542fs)	BRCA2	Pathogenic	13	32913117	32913117	GT	G	reviewed by expert panel	ClinGen:CA10589269
Indel	NM_000059.3(BRCA2):c.4638_4640delinsGG (p.Phe1546fs)	BRCA2	Pathogenic	13	32913130	32913132	TGA	GG	reviewed by expert panel	ClinGen:CA10589270
Indel	NM_000059.3(BRCA2):c.4741delinsAA (p.Glu1581fs)	BRCA2	Pathogenic	13	32913233	32913233	G	AA	reviewed by expert panel	ClinGen:CA10589271
single nucleotide variant	NM_000059.4(BRCA2):c.4774A>T (p.Lys1592Ter)	BRCA2	Pathogenic	13	32913266	32913266	A	T	reviewed by expert panel	ClinGen:CA10589272
single nucleotide variant	NM_000059.4(BRCA2):c.4783C>T (p.Gln1595Ter)	BRCA2	Pathogenic	13	32913275	32913275	C	T	reviewed by expert panel	ClinGen:CA10589273
Deletion	NM_000059.4(BRCA2):c.4799del (p.Asn1600fs)	BRCA2	Pathogenic	13	32913290	32913290	TA	T	reviewed by expert panel	ClinGen:CA10589274
Indel	NM_000059.3(BRCA2):c.4853delinsGCTCT (p.Asp1618fs)	BRCA2	Pathogenic	13	32913345	32913345	A	GCTCT	reviewed by expert panel	ClinGen:CA10589275
single nucleotide variant	NM_000059.4(BRCA2):c.4912A>T (p.Lys1638Ter)	BRCA2	Pathogenic	13	32913404	32913404	A	T	reviewed by expert panel	ClinGen:CA10589276
Deletion	NM_000059.4(BRCA2):c.4930_4937del (p.Glu1644fs)	BRCA2	Pathogenic	13	32913421	32913428	TAGAAAAAG	T	reviewed by expert panel	ClinGen:CA10589277
Duplication	NM_000059.4(BRCA2):c.4939dup (p.Thr1647fs)	BRCA2	Pathogenic	13	32913428	32913429	G	GA	reviewed by expert panel	ClinGen:CA10589278