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_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs)	BRCA2	Pathogenic	13	32972366	32972367	C	CTA	criteria provided, single submitter	ClinGen:CA10579843
Duplication	NM_024675.4(PALB2):c.3473_3476dup (p.Trp1159Ter)	PALB2	Pathogenic	16	23614864	23614865	C	CCAAT	criteria provided, single submitter	ClinGen:CA10579912
Deletion	NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs)	PALB2	Pathogenic	16	23614936	23614945	TTCCAGAAGTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579916
Deletion	NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs)	PALB2	Pathogenic/Likely pathogenic	16	23614946	23614967	CAAGATTGCTGCTGCACAGTGAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579917
single nucleotide variant	NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter)	PALB2	Pathogenic	16	23614983	23614983	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579919
single nucleotide variant	NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)	PALB2	Pathogenic	16	23619185	23619185	C	T	reviewed by expert panel	ClinGen:CA10579920
Deletion	NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs)	PALB2	Pathogenic	16	23619288	23619289	TCA	T	criteria provided, single submitter	ClinGen:CA10579923
single nucleotide variant	NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)	PALB2	Pathogenic	16	23625361	23625361	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579929
single nucleotide variant	NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)	PALB2	Pathogenic	16	23625412	23625412	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579930
single nucleotide variant	NM_024675.4(PALB2):c.3113+5G>C	PALB2	Pathogenic/Likely pathogenic	16	23632678	23632678	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579931