遺伝性びまん性胃がん

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_004360.5(CDH1):c.631del (p.Thr211fs)	CDH1	Pathogenic	16	68842693	68842693	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)	CDH1	Pathogenic	16	68771344	68771344	C	A	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.1380del (p.Pro461fs)	CDH1	Pathogenic	16	68849477	68849477	TA	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs)	CDH1	Pathogenic	16	68847310	68847311	C	CTG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004360.4(CDH1):c.2440_2649del	CDH1	Pathogenic	16	68867190	68867399	TTAGAATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGAC	T	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.51_163+2del	CDH1	Pathogenic	16	68772198	68772312	CAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.2165-1G>T	CDH1	Likely pathogenic	16	68862076	68862076	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004360.5(CDH1):c.531+1G>T	CDH1	Likely pathogenic	16	68842471	68842471	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.2265T>A (p.Tyr755Ter)	CDH1	Pathogenic	16	68862177	68862177	T	A	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter)	CDH1	Pathogenic	16	68856105	68856105	G	A	reviewed by expert panel	-