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
Insertion	NM_007294.4(BRCA1):c.4397_4398insA (p.Ser1466fs)	BRCA1	Pathogenic	17	41228591	41228592	G	GT	reviewed by expert panel	ClinGen:CA10589665
single nucleotide variant	NM_007294.4(BRCA1):c.4375A>T (p.Lys1459Ter)	BRCA1	Pathogenic	17	41228614	41228614	T	A	reviewed by expert panel	ClinGen:CA10589666
single nucleotide variant	NM_007294.4(BRCA1):c.4364T>G (p.Leu1455Ter)	BRCA1	Pathogenic	17	41228625	41228625	A	C	reviewed by expert panel	ClinGen:CA10589667
single nucleotide variant	NM_007294.4(BRCA1):c.4349C>G (p.Ser1450Ter)	BRCA1	Pathogenic	17	41234429	41234429	G	C	reviewed by expert panel	ClinGen:CA10589668
Duplication	NM_007294.4(BRCA1):c.4342dup (p.Ser1448fs)	BRCA1	Pathogenic	17	41234435	41234436	C	CT	reviewed by expert panel	ClinGen:CA10589669
Deletion	NM_007294.4(BRCA1):c.4309del (p.Ser1437fs)	BRCA1	Pathogenic	17	41234469	41234469	GA	G	reviewed by expert panel	ClinGen:CA10589670
Deletion	NM_007294.4(BRCA1):c.4290_4296del (p.Pro1430_Ser1431insTer)	BRCA1	Pathogenic	17	41234482	41234488	TGATGGAA	T	reviewed by expert panel	ClinGen:CA10589671
Indel	NM_007294.4(BRCA1):c.4284_4285delinsG (p.Ser1428fs)	BRCA1	Pathogenic	17	41234493	41234494	AG	C	reviewed by expert panel	ClinGen:CA10589672
Duplication	NM_007294.4(BRCA1):c.4285dup (p.Tyr1429fs)	BRCA1	Pathogenic	17	41234492	41234493	T	TA	reviewed by expert panel	ClinGen:CA10589673
single nucleotide variant	NM_007294.4(BRCA1):c.4270C>T (p.Gln1424Ter)	BRCA1	Pathogenic	17	41234508	41234508	G	A	reviewed by expert panel	ClinGen:CA10589674