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
single nucleotide variant	NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)	BRCA2	Pathogenic/Likely pathogenic	13	32937402	32937402	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025432
single nucleotide variant	NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)	BRCA2	Pathogenic	13	32937507	32937507	A	G	reviewed by expert panel	ClinGen:CA025484
Deletion	NM_000059.4(BRCA2):c.8205_8206del (p.Leu2737fs)	BRCA2	Pathogenic	13	32937542	32937543	TCC	T	reviewed by expert panel	ClinGen:CA025511
Duplication	NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs)	BRCA2	Pathogenic	13	32937590	32937591	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8481&base_change=ins T,ClinGen:CA025540
Deletion	NM_000059.4(BRCA2):c.826_830del (p.Lys275_Val276insTer)	BRCA2	Pathogenic	13	32906437	32906441	TTAAAG	T	reviewed by expert panel	ClinGen:CA025546
Deletion	NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)	BRCA2	Pathogenic	13	32937636	32937636	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8525&base_change=del C,ClinGen:CA025553,OMIM:600185.0007
Duplication	NM_000059.4(BRCA2):c.8322dup (p.Met2775fs)	BRCA2	Pathogenic	13	32937659	32937660	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8550&base_change=ins T,ClinGen:CA025570
single nucleotide variant	NM_000059.4(BRCA2):c.8331+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32937671	32937671	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025578
Indel	NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)	BRCA2	Pathogenic	13	32944621	32944623	TAT	C	reviewed by expert panel	ClinGen:CA025629
single nucleotide variant	NM_000059.4(BRCA2):c.8487+1G>T	BRCA2	Pathogenic	13	32944695	32944695	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025671