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_024675.4(PALB2):c.2566C>T (p.Gln856Ter)	PALB2	Pathogenic/Likely pathogenic	16	23640545	23640545	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)	PALB2	Pathogenic	16	23640550	23640551	GTT	G	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter)	PALB2	Pathogenic	16	23641053	23641053	C	A	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)	PALB2	Pathogenic	16	23641174	23641177	AGACT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2295del (p.Ser766fs)	PALB2	Pathogenic	16	23641180	23641180	AG	A	criteria provided, single submitter	-
Insertion	NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)	PALB2	Pathogenic	16	23641289	23641290	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1965del (p.Pro656fs)	PALB2	Pathogenic	16	23641510	23641510	GA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_024675.4(PALB2):c.1776dup (p.His593fs)	PALB2	Pathogenic	16	23641698	23641699	G	GA	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1765_1771del (p.Thr589fs)	PALB2	Pathogenic	16	23641704	23641710	GGAGCCGT	G	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.1156dup (p.Thr386fs)	PALB2	Pathogenic	16	23646710	23646711	G	GT	criteria provided, multiple submitters, no conflicts	-