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.3008del (p.Asn1003fs)	PALB2	Pathogenic	16	23632788	23632788	GT	G	criteria provided, single submitter	-
Indel	NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs)	PALB2	Likely pathogenic	16	23641346	23641359	GTATTTAAAGGAGT	C	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.1848dup (p.Glu617Ter)	PALB2	Pathogenic	16	23641626	23641627	C	CA	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.1539dup (p.Gly514fs)	PALB2	Pathogenic	16	23646327	23646328	C	CT	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.715del (p.Arg239fs)	PALB2	Pathogenic	16	23647152	23647152	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)	PALB2	Pathogenic	16	23649449	23649449	A	C	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4568del (p.Pro1523fs)	BRCA1	Likely pathogenic	17	41226455	41226455	TG	T	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4152_4153del (p.Leu1385fs)	BRCA1	Pathogenic	17	41242993	41242994	AGC	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3068del (p.Val1023fs)	BRCA1	Pathogenic	17	41244480	41244480	CA	C	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs)	BRCA1	Pathogenic	17	41245585	41245586	A	AC	criteria provided, multiple submitters, no conflicts	-