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.2137C>T (p.Gln713Ter)	BRCA2	Pathogenic	13	32910629	32910629	C	T	reviewed by expert panel	ClinGen:CA10589137
Duplication	NM_000059.4(BRCA2):c.2147dup (p.Cys717fs)	BRCA2	Pathogenic	13	32910638	32910639	C	CA	reviewed by expert panel	ClinGen:CA10589138
Deletion	NM_000059.4(BRCA2):c.2197del (p.Val733fs)	BRCA2	Pathogenic	13	32910688	32910688	AG	A	reviewed by expert panel	ClinGen:CA10589139
Insertion	NM_000059.4(BRCA2):c.2202_2203insAA (p.Ala735fs)	BRCA2	Pathogenic	13	32910694	32910695	G	GAA	reviewed by expert panel	ClinGen:CA10589140
Deletion	NM_000059.4(BRCA2):c.2206del (p.Ala736fs)	BRCA2	Pathogenic	13	32910698	32910698	TG	T	reviewed by expert panel	ClinGen:CA10589141
Deletion	NM_000059.4(BRCA2):c.2208del (p.Ala737fs)	BRCA2	Pathogenic	13	32910700	32910700	CA	C	reviewed by expert panel	ClinGen:CA10589142
Deletion	NM_000059.4(BRCA2):c.2209_2216del (p.Ala737fs)	BRCA2	Pathogenic	13	32910699	32910706	GCAGCATGT	G	reviewed by expert panel	ClinGen:CA10589143
Insertion	NM_000059.4(BRCA2):c.2245_2246insTTCAAAAGTGGAATTCAAAA (p.Ser749fs)	BRCA2	Pathogenic	13	32910736	32910737	C	CATTCAAAAGTGGAATTCAAA	reviewed by expert panel	ClinGen:CA10589144
Duplication	NM_000059.4(BRCA2):c.2251dup (p.Thr751fs)	BRCA2	Pathogenic	13	32910742	32910743	T	TA	reviewed by expert panel	ClinGen:CA10589145
Duplication	NM_000059.4(BRCA2):c.2255dup (p.Asp752fs)	BRCA2	Pathogenic	13	32910746	32910747	G	GA	reviewed by expert panel	ClinGen:CA10589146