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.5044_5048delinsT (p.Thr1681_Glu1682insTer)	BRCA1	Pathogenic	17	41219651	41219655	TCTTC	A	reviewed by expert panel	ClinGen:CA10589624
Insertion	NM_007294.4(BRCA1):c.5041_5042insTTAA (p.Thr1681fs)	BRCA1	Pathogenic	17	41219657	41219658	G	GTTAA	reviewed by expert panel	ClinGen:CA10589625
Deletion	NM_007294.4(BRCA1):c.5042del (p.Thr1681fs)	BRCA1	Pathogenic	17	41219657	41219657	AG	A	reviewed by expert panel	ClinGen:CA10589626
Duplication	NM_007294.4(BRCA1):c.5038_5041dup (p.Thr1681fs)	BRCA1	Pathogenic	17	41219657	41219658	G	GTAAT	reviewed by expert panel	ClinGen:CA10589627
Duplication	NM_007294.4(BRCA1):c.5030_5033dup (p.Asn1678_Leu1679insTer)	BRCA1	Pathogenic	17	41219665	41219666	A	ATTAG	reviewed by expert panel	ClinGen:CA10589628
single nucleotide variant	NM_007294.4(BRCA1):c.5027T>A (p.Leu1676Ter)	BRCA1	Pathogenic	17	41219672	41219672	A	T	reviewed by expert panel	ClinGen:CA10589629
Deletion	NM_007294.4(BRCA1):c.5026_5027del (p.Leu1676fs)	BRCA1	Pathogenic	17	41219672	41219673	TAA	T	reviewed by expert panel	ClinGen:CA10589630
Deletion	NM_007294.4(BRCA1):c.5027del (p.Thr1675_Leu1676insTer)	BRCA1	Pathogenic	17	41219672	41219672	TA	T	reviewed by expert panel	ClinGen:CA10589631
Deletion	NM_007294.4(BRCA1):c.5019del (p.His1673fs)	BRCA1	Pathogenic	17	41219680	41219680	TG	T	reviewed by expert panel	ClinGen:CA10589632
Duplication	NM_007294.4(BRCA1):c.5013dup (p.His1672fs)	BRCA1	Pathogenic	17	41219685	41219686	G	GT	reviewed by expert panel	ClinGen:CA10589633