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_007294.4(BRCA1):c.4995_5007dup (p.Arg1670fs)	BRCA1	Pathogenic	17	41219691	41219692	T	TGGCAAACTTGTAC	reviewed by expert panel	ClinGen:CA10589634
Deletion	NM_007294.4(BRCA1):c.4860_4941del (p.Asp1621fs)	BRCA1	Pathogenic	17	41222990	41223071	TGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA	T	reviewed by expert panel	ClinGen:CA10589635
Deletion	NM_007294.4(BRCA1):c.4921del (p.Ala1641fs)	BRCA1	Pathogenic	17	41223010	41223010	GC	G	reviewed by expert panel	ClinGen:CA10589636
Deletion	NM_007294.4(BRCA1):c.4887_4893del (p.Glu1629_Glu1630insTer)	BRCA1	Pathogenic	17	41223038	41223044	CACTTTCT	C	reviewed by expert panel	ClinGen:CA10589637
Deletion	NM_007294.4(BRCA1):c.4891del (p.Ser1631fs)	BRCA1	Pathogenic	17	41223040	41223040	CT	C	reviewed by expert panel	ClinGen:CA10589638
Duplication	NM_007294.4(BRCA1):c.4885dup (p.Glu1629fs)	BRCA1	Pathogenic	17	41223045	41223046	T	TC	reviewed by expert panel	ClinGen:CA10589639
Duplication	NM_007294.4(BRCA1):c.4878dup (p.Ala1627fs)	BRCA1	Pathogenic	17	41223052	41223053	C	CA	reviewed by expert panel	ClinGen:CA10589640
Deletion	NM_007294.4(BRCA1):c.4877del (p.Asn1626fs)	BRCA1	Pathogenic	17	41223054	41223054	AT	A	reviewed by expert panel	ClinGen:CA10589641
single nucleotide variant	NM_007294.4(BRCA1):c.4875T>A (p.Tyr1625Ter)	BRCA1	Pathogenic	17	41223056	41223056	A	T	reviewed by expert panel	ClinGen:CA10589642
Deletion	NM_007294.4(BRCA1):c.4834del (p.Gln1612fs)	BRCA1	Pathogenic	17	41223097	41223097	TG	T	reviewed by expert panel	ClinGen:CA10589643