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.9748dup (p.Ser3250fs)	BRCA2	Pathogenic	13	32972396	32972397	C	CT	reviewed by expert panel	ClinGen:CA10589573
Deletion	NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)	BRCA2	Pathogenic	13	32972438	32972439	AAG	A	reviewed by expert panel	ClinGen:CA10589574
single nucleotide variant	NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter)	BRCA2	Pathogenic	13	32972486	32972486	T	A	reviewed by expert panel	ClinGen:CA10589575
Duplication	NM_000059.4(BRCA2):c.9846dup (p.Val3283fs)	BRCA2	Pathogenic	13	32972495	32972496	C	CT	reviewed by expert panel	ClinGen:CA10589576
Deletion	NM_000059.4(BRCA2):c.9871del (p.Ser3291fs)	BRCA2	Pathogenic	13	32972519	32972519	GT	G	reviewed by expert panel	ClinGen:CA10589577
single nucleotide variant	NM_000059.4(BRCA2):c.9924C>A (p.Tyr3308Ter)	BRCA2	Pathogenic	13	32972574	32972574	C	A	reviewed by expert panel	ClinGen:CA10589578
Deletion	NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)	BRCA1	Pathogenic	17	41197727	41197731	AGGTAG	A	reviewed by expert panel	ClinGen:CA10589579
Deletion	NM_007294.4(BRCA1):c.5560del (p.Tyr1853_Leu1854insTer)	BRCA1	Pathogenic	17	41197727	41197727	AG	A	reviewed by expert panel	ClinGen:CA10589580
Deletion	NM_007294.4(BRCA1):c.5537_5556del (p.Gln1846fs)	BRCA1	Pathogenic	17	41197731	41197750	AGGTGTCCAGCTCCTGGCACT	A	reviewed by expert panel	ClinGen:CA10589581
Deletion	NM_007294.4(BRCA1):c.5551del (p.Asp1851fs)	BRCA1	Pathogenic	17	41197736	41197736	TC	T	reviewed by expert panel	ClinGen:CA10589582