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
Duplication	NM_024675.4(PALB2):c.601dup (p.Ser201fs)	PALB2	Pathogenic/Likely pathogenic	16	23647265	23647266	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603259
Duplication	NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)	BRCA2	Pathogenic	13	32914046	32914047	G	GT	reviewed by expert panel	ClinGen:CA10603292
Deletion	NM_024675.4(PALB2):c.2029del (p.Val677fs)	PALB2	Likely pathogenic	16	23641446	23641446	AC	A	criteria provided, single submitter	ClinGen:CA10603369
Duplication	NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs)	BRCA1	Pathogenic	17	41245043	41245044	A	ATGTCCCAATGGATACTT	reviewed by expert panel	ClinGen:CA10603376
Duplication	NM_000059.4(BRCA2):c.308dup (p.Leu103fs)	BRCA2	Pathogenic/Likely pathogenic	13	32893452	32893453	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042136
Deletion	NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)	BRCA2	Likely pathogenic	13	32911568	32911569	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042138
single nucleotide variant	NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912966	32912966	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042139
Deletion	NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)	BRCA2	Pathogenic/Likely pathogenic	13	32913062	32913065	TTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042140
Deletion	NM_000059.4(BRCA2):c.5487_5488del (p.Leu1829fs)	BRCA2	Likely pathogenic	13	32913978	32913979	TTG	T	criteria provided, single submitter	ClinGen:CA16042141
Deletion	NM_024675.4(PALB2):c.3425del (p.Leu1142fs)	PALB2	Pathogenic/Likely pathogenic	16	23614916	23614916	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042144