PALB2変異陽性乳がん・膵臓がん

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
Deletion	NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs)	PALB2	Pathogenic	16	23646315	23646316	GAT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.613G>T (p.Glu205Ter)	PALB2	Likely pathogenic	16	23647254	23647254	C	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_024675.3(PALB2):c.3249_3253delinsAGCC (p.Ser1084fs)	PALB2	Pathogenic	16	23619282	23619286	ACGAC	GGCT	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.3085_3092del (p.Thr1029fs)	PALB2	Pathogenic	16	23632704	23632711	AATAGTAGT	A	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)	PALB2	Pathogenic	16	23634420	23634420	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2816_2823del (p.Asn938_Leu939insTer)	PALB2	Pathogenic	16	23635341	23635348	TGATTTCCA	T	criteria provided, single submitter	-
Indel	NM_024675.3(PALB2):c.2223_2224delinsG (p.Ser742fs)	PALB2	Pathogenic	16	23641251	23641252	AG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)	PALB2	Pathogenic	16	23646331	23646331	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1179del (p.Lys393fs)	PALB2	Pathogenic	16	23646688	23646688	GT	G	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.682del (p.Gln228fs)	PALB2	Pathogenic	16	23647185	23647185	TG	T	criteria provided, multiple submitters, no conflicts	-