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
Indel	NM_007294.4(BRCA1):c.5208_5247delinsTC (p.Arg1737fs)	BRCA1	Pathogenic	17	41209099	41209138	TGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTG	GA	reviewed by expert panel	ClinGen:CA10589604
Deletion	NM_007294.4(BRCA1):c.5239del (p.Gln1747fs)	BRCA1	Pathogenic	17	41209107	41209107	TG	T	reviewed by expert panel	ClinGen:CA10589605
Duplication	NM_007294.4(BRCA1):c.5239dup (p.Gln1747fs)	BRCA1	Pathogenic	17	41209106	41209107	T	TG	reviewed by expert panel	ClinGen:CA10589606
Deletion	NM_007294.4(BRCA1):c.5230_5237del (p.Arg1744fs)	BRCA1	Pathogenic	17	41209109	41209116	GTGGTTTCT	G	reviewed by expert panel	ClinGen:CA10589607
Deletion	NM_007294.4(BRCA1):c.5221_5224del (p.Val1741fs)	BRCA1	Pathogenic	17	41209122	41209125	TTGAC	T	reviewed by expert panel	ClinGen:CA10589608
Deletion	NM_007294.4(BRCA1):c.5213del (p.Gly1738fs)	BRCA1	Pathogenic	17	41209133	41209133	TC	T	reviewed by expert panel	ClinGen:CA10589609
single nucleotide variant	NM_007294.4(BRCA1):c.5212G>T (p.Gly1738Ter)	BRCA1	Pathogenic	17	41209134	41209134	C	A	reviewed by expert panel	ClinGen:CA10589610
Duplication	NM_007294.4(BRCA1):c.5209dup (p.Arg1737fs)	BRCA1	Pathogenic	17	41209136	41209137	C	CT	reviewed by expert panel	ClinGen:CA10589611
Deletion	NM_007294.4(BRCA1):c.5161_5165del (p.Gln1721fs)	BRCA1	Pathogenic	17	41215378	41215382	AGACTG	A	reviewed by expert panel	ClinGen:CA10589612
Insertion	NM_007294.4(BRCA1):c.5163_5164insC (p.Ser1722fs)	BRCA1	Pathogenic	17	41215379	41215380	A	AG	reviewed by expert panel	ClinGen:CA10589613