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_024675.4(PALB2):c.62T>G (p.Leu21Ter)	PALB2	Pathogenic	16	23649437	23649437	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963863
Duplication	NM_007294.4(BRCA1):c.4532dup (p.His1511fs)	BRCA1	Pathogenic	17	41226490	41226491	G	GT	reviewed by expert panel	ClinGen:CA645509505
single nucleotide variant	NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter)	BRCA1	Pathogenic	17	41226515	41226515	G	C	reviewed by expert panel	ClinGen:CA10592512
Duplication	NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)	BRCA1	Pathogenic	17	41243800	41243801	C	CGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAAGGTATATTG	reviewed by expert panel	ClinGen:CA274940
Deletion	NM_007294.4(BRCA1):c.3424del (p.Ala1142fs)	BRCA1	Pathogenic	17	41244124	41244124	GC	G	reviewed by expert panel	ClinGen:CA645509526
single nucleotide variant	NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter)	BRCA1	Pathogenic	17	41244739	41244739	T	A	reviewed by expert panel	ClinGen:CA10596375
Duplication	NM_007294.4(BRCA1):c.1723dup (p.Glu575fs)	BRCA1	Pathogenic	17	41245824	41245825	T	TC	reviewed by expert panel	ClinGen:CA645509517
Duplication	NM_007294.4(BRCA1):c.1205dup (p.Ser403fs)	BRCA1	Pathogenic	17	41246342	41246343	C	CT	reviewed by expert panel	ClinGen:CA645509518
Deletion	NM_007294.4(BRCA1):c.964_968del (p.Ala322fs)	BRCA1	Pathogenic	17	41246580	41246584	TCCAGC	T	reviewed by expert panel	ClinGen:CA645509520
Deletion	NM_007294.4(BRCA1):c.1110del (p.Pro371fs)	BRCA1	Pathogenic	17	41246438	41246438	GA	G	reviewed by expert panel	ClinGen:CA645509519