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
Deletion	NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs)	PALB2	Pathogenic	16	23641275	23641281	GTAGTACC	G	criteria provided, single submitter	ClinGen:CA658658407
Deletion	NM_024675.4(PALB2):c.2175_2176del (p.Pro726fs)	PALB2	Pathogenic	16	23641299	23641300	GGT	G	criteria provided, single submitter	ClinGen:CA658658408
Indel	NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs)	PALB2	Pathogenic	16	23646790	23646808	ACTGGGAGATTTTAAAGAT	CC	criteria provided, single submitter	ClinGen:CA658658430
single nucleotide variant	NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)	PALB2	Pathogenic	16	23646192	23646192	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395129920
Deletion	NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer)	PALB2	Pathogenic	16	23646803	23646803	TA	T	criteria provided, single submitter	ClinGen:CA658658432
Deletion	NM_024675.4(PALB2):c.1873del (p.Glu625fs)	PALB2	Pathogenic	16	23641602	23641602	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658415
Deletion	NM_024675.4(PALB2):c.1440del (p.Lys480fs)	PALB2	Pathogenic	16	23646427	23646427	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658423
Deletion	NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)	PALB2	Pathogenic	16	23646601	23646601	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658426
Deletion	NM_024675.4(PALB2):c.1183del (p.Ser395fs)	PALB2	Pathogenic/Likely pathogenic	16	23646684	23646684	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658428
Deletion	NM_024675.4(PALB2):c.1008_1009del (p.Leu337fs)	PALB2	Pathogenic	16	23646858	23646859	AAG	A	criteria provided, single submitter	ClinGen:CA658658434