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
Insertion	NM_007294.4(BRCA1):c.624_625insAGGGATGAAATCAGGAACCA (p.Pro209fs)	BRCA1	Likely pathogenic	17	41247908	41247909	G	GTGGTTCCTGATTTCATCCCT	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.105dup (p.Ser36fs)	BRCA1	Pathogenic	17	41267771	41267772	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3201+5G>T	PALB2	Likely pathogenic	16	23625320	23625320	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.4185+4105C>T	BRCA1	Likely pathogenic	17	41238856	41238856	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32899272	32899272	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.1841_1842dup (p.Asn615fs)	BRCA2	Likely pathogenic	13	32907455	32907456	A	ATT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.1846del (p.Cys616fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907461	32907461	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912404	32912405	CTT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.3935dup (p.Asn1312fs)	BRCA2	Likely pathogenic	13	32912423	32912424	G	GA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912428	32912428	AT	A	criteria provided, multiple submitters, no conflicts	-