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_007294.4(BRCA1):c.2228del (p.Asn743fs)	BRCA1	Pathogenic	17	41245320	41245320	AT	A	criteria provided, single submitter	ClinGen:CA658656729
Deletion	NM_007294.4(BRCA1):c.2162_2163del (p.Phe721fs)	BRCA1	Pathogenic	17	41245385	41245386	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656732
single nucleotide variant	NM_007294.4(BRCA1):c.97G>T (p.Glu33Ter)	BRCA1	Pathogenic	17	41267780	41267780	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601958
Deletion	NM_007294.4(BRCA1):c.3103_3104del (p.Val1035fs)	BRCA1	Pathogenic	17	41244444	41244445	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656627
Deletion	NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs)	BRCA1	Pathogenic/Likely pathogenic	17	41246456	41246457	TAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656797
Indel	NM_007294.4(BRCA1):c.279_280delinsGAA (p.Phe93fs)	BRCA1	Pathogenic	17	41256906	41256907	GA	TTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656668
Indel	NM_007294.4(BRCA1):c.122_134delinsT (p.His41_Lys45delinsLeu)	BRCA1	Likely pathogenic	17	41267743	41267755	TTGCAAAATATGT	A	criteria provided, single submitter	ClinGen:CA658656687
Deletion	NM_007294.4(BRCA1):c.2680_2687del (p.Lys894fs)	BRCA1	Pathogenic	17	41244861	41244868	ACTTTGTTT	A	criteria provided, single submitter	ClinGen:CA658656675
single nucleotide variant	NM_007294.4(BRCA1):c.191G>C (p.Cys64Ser)	BRCA1	Pathogenic	17	41258494	41258494	C	G	criteria provided, single submitter	ClinGen:CA10601786
single nucleotide variant	NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter)	CDKN2A	Pathogenic	9	21974695	21974695	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086506