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.1669del (p.Thr557fs)	BRCA1	Pathogenic	17	41245879	41245879	GT	G	reviewed by expert panel	ClinGen:CA10589926
Insertion	NM_007294.4(BRCA1):c.1651_1652insC (p.Ser551fs)	BRCA1	Pathogenic	17	41245896	41245897	C	CG	reviewed by expert panel	ClinGen:CA10589927
Deletion	NM_007294.4(BRCA1):c.1616_1625del (p.Thr539fs)	BRCA1	Pathogenic	17	41245923	41245932	ATTCTGCTCCG	A	reviewed by expert panel	ClinGen:CA10589929
single nucleotide variant	NM_007294.4(BRCA1):c.1618G>T (p.Glu540Ter)	BRCA1	Pathogenic	17	41245930	41245930	C	A	reviewed by expert panel	ClinGen:CA10589930
Deletion	NM_007294.4(BRCA1):c.1575del (p.Gln526fs)	BRCA1	Pathogenic	17	41245973	41245973	GA	G	reviewed by expert panel	ClinGen:CA10589931
single nucleotide variant	NM_007294.4(BRCA1):c.1529C>A (p.Ser510Ter)	BRCA1	Pathogenic	17	41246019	41246019	G	T	reviewed by expert panel	ClinGen:CA10589932
Deletion	NM_007294.4(BRCA1):c.1497_1509del (p.Asn500fs)	BRCA1	Pathogenic	17	41246039	41246051	GCTTTAATTTATTT	G	reviewed by expert panel	ClinGen:CA10589933
Deletion	NM_007294.4(BRCA1):c.1504_1507del (p.Leu502fs)	BRCA1	Pathogenic	17	41246041	41246044	TTTAA	T	reviewed by expert panel	ClinGen:CA10589934
single nucleotide variant	NM_007294.4(BRCA1):c.1505T>G (p.Leu502Ter)	BRCA1	Pathogenic	17	41246043	41246043	A	C	reviewed by expert panel	ClinGen:CA10589935
Deletion	NM_007294.4(BRCA1):c.1505del (p.Lys501_Leu502insTer)	BRCA1	Pathogenic	17	41246043	41246043	TA	T	reviewed by expert panel	ClinGen:CA10589936