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_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)	BRCA2	Pathogenic	13	32932038	32932038	G	T	reviewed by expert panel	ClinGen:CA025271
single nucleotide variant	NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)	PALB2	Pathogenic	16	23614865	23614865	C	T	criteria provided, single submitter	ClinGen:CA166575
Deletion	NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)	PALB2	Pathogenic	16	23647268	23647268	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166678
single nucleotide variant	NM_058195.4(CDKN2A):c.193+5G>A	CDKN2A	Pathogenic/Likely pathogenic	9	21994133	21994133	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166694
single nucleotide variant	NM_000059.4(BRCA2):c.2312T>G (p.Leu771Ter)	BRCA2	Pathogenic	13	32910804	32910804	T	G	reviewed by expert panel	ClinGen:CA014913
Duplication	NM_007294.4(BRCA1):c.4655dup (p.Tyr1552Ter)	BRCA1	Pathogenic	17	41226367	41226368	G	GT	reviewed by expert panel	ClinGen:CA166927
Deletion	NM_000059.4(BRCA2):c.5583del (p.Lys1861_Val1862insTer)	BRCA2	Pathogenic	13	32914070	32914070	TA	T	reviewed by expert panel	ClinGen:CA022633
Indel	NM_000059.4(BRCA2):c.8954-1_8955delinsAA	BRCA2	Pathogenic	13	32953886	32953888	GTT	AA	reviewed by expert panel	ClinGen:CA167382
Duplication	NM_024675.4(PALB2):c.850dup (p.Thr284fs)	PALB2	Pathogenic	16	23647016	23647017	G	GT	criteria provided, single submitter	ClinGen:CA167396
Deletion	NM_007294.4(BRCA1):c.1488del (p.Leu498fs)	BRCA1	Pathogenic	17	41246060	41246060	GA	G	reviewed by expert panel	ClinGen:CA000998