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_007294.4(BRCA1):c.2570T>A (p.Leu857Ter)	BRCA1	Pathogenic	17	41244978	41244978	A	T	reviewed by expert panel	ClinGen:CA10575948
Insertion	NM_007294.4(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs)	BRCA1	Pathogenic	17	41244991	41244992	C	CGAAAAGTGAA	criteria provided, single submitter	ClinGen:CA10575949
Duplication	NM_007294.4(BRCA1):c.1299dup (p.Ser434fs)	BRCA1	Pathogenic	17	41246248	41246249	T	TG	reviewed by expert panel	ClinGen:CA10575951
Deletion	NM_007294.4(BRCA1):c.519del (p.Gln174fs)	BRCA1	Pathogenic	17	41251820	41251820	GA	G	reviewed by expert panel	ClinGen:CA10575953
single nucleotide variant	NM_007294.4(BRCA1):c.213-2A>G	BRCA1	Pathogenic	17	41256975	41256975	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575954
single nucleotide variant	NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)	BRCA1	Pathogenic/Likely pathogenic	17	41258493	41258493	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575955
Deletion	NM_007294.4(BRCA1):c.81_134del (p.Cys27_Lys45delinsTer)	BRCA1	Pathogenic	17	41267743	41267796	CTTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA	C	reviewed by expert panel	ClinGen:CA10575956
Deletion	NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs)	BRCA2	Pathogenic	13	32912180	32912181	TTC	T	reviewed by expert panel	ClinGen:CA354139
Deletion	NM_000059.4(BRCA2):c.8419_8428del (p.Ser2807fs)	BRCA2	Pathogenic	13	32944623	32944632	ATCATCGCTTT	A	reviewed by expert panel	ClinGen:CA354140
Deletion	NM_024675.4(PALB2):c.3186del (p.Ala1063fs)	PALB2	Pathogenic	16	23625340	23625340	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353510