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.6254T>G (p.Leu2085Ter)	BRCA2	Pathogenic	13	32914746	32914746	T	G	reviewed by expert panel	ClinGen:CA348847
Duplication	NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs)	BRCA2	Pathogenic	13	32921023	32921024	G	GT	reviewed by expert panel	ClinGen:CA348970
Indel	NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs)	BRCA2	Pathogenic	13	32953601	32953612	ACCGTGTGGAAG	TCCC	reviewed by expert panel	ClinGen:CA348803
single nucleotide variant	NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter)	BRCA2	Pathogenic	13	32953920	32953920	T	A	reviewed by expert panel	ClinGen:CA348592
single nucleotide variant	NM_000059.4(BRCA2):c.9027T>G (p.Tyr3009Ter)	BRCA2	Pathogenic	13	32953960	32953960	T	G	reviewed by expert panel	ClinGen:CA349539
Deletion	NM_024675.3(PALB2):c.3202-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23619333	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.3114-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23625412	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3350+1G>A	PALB2	Pathogenic	16	23619184	23619184	C	T	criteria provided, single submitter	ClinGen:CA348374
Indel	NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)	PALB2	Pathogenic	16	23619246	23619249	GGTT	TCATTAAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA350767
single nucleotide variant	NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)	PALB2	Pathogenic/Likely pathogenic	16	23619264	23619264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350661