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
Duplication	NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs)	PALB2	Pathogenic	16	23619290	23619291	C	CTCTCTTTGGCACAGGGA	criteria provided, single submitter	ClinGen:CA191362
Deletion	NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)	PALB2	Pathogenic/Likely pathogenic	16	23632789	23632792	TTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196785
single nucleotide variant	NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)	PALB2	Pathogenic/Likely pathogenic	16	23634300	23634300	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA197777
Deletion	NM_024675.4(PALB2):c.2747_2748+4del	PALB2	Pathogenic/Likely pathogenic	16	23637553	23637558	CTTACCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA198185
single nucleotide variant	NM_024675.4(PALB2):c.2748+1G>T	PALB2	Pathogenic/Likely pathogenic	16	23637556	23637556	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA193676
Indel	NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)	PALB2	Pathogenic	16	23640576	23640587	AGGAAGCTCTGC	TCTGA	reviewed by expert panel	ClinGen:CA196418
single nucleotide variant	NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641139	23641139	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA194883
single nucleotide variant	NM_024675.4(PALB2):c.1930G>T (p.Gly644Ter)	PALB2	Pathogenic	16	23641545	23641545	C	A	criteria provided, single submitter	ClinGen:CA192870
Deletion	NM_024675.4(PALB2):c.1914_1929del (p.Phe638fs)	PALB2	Pathogenic	16	23641546	23641561	CAAACATTTTTGACTCA	C	criteria provided, single submitter	ClinGen:CA195964
Duplication	NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)	PALB2	Pathogenic	16	23646249	23646250	T	TAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA196319