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_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)	PALB2	Pathogenic/Likely pathogenic	16	23619237	23619238	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)	PALB2	Pathogenic/Likely pathogenic	16	23635405	23635405	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641463	23641463	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647106	23647106	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs)	BRCA1	Likely pathogenic	17	41226391	41226400	GTGGCCCAGAC	G	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)	BRCA1	Pathogenic/Likely pathogenic	17	41226489	41226489	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2620_2621del (p.Asn874fs)	BRCA1	Likely pathogenic	17	41244927	41244928	ATT	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2295del (p.Ser766fs)	BRCA1	Pathogenic/Likely pathogenic	17	41245253	41245253	TC	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.632-1dup	BRCA2	Likely pathogenic	13	32903578	32903579	A	AG	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.8488-1_8489delinsTCCATTACA	BRCA2	Likely pathogenic	13	32945092	32945094	GTG	TCCATTACA	criteria provided, single submitter	-