家族性大腸腺腫症

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_002528.7(NTHL1):c.795del (p.Glu265fs)	NTHL1	Likely pathogenic	16	2090045	2090045	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002528.7(NTHL1):c.685+1G>A	NTHL1	Pathogenic/Likely pathogenic	16	2093567	2093567	C	T	criteria provided, multiple submitters, no conflicts	OMIM:602656.0002,ClinGen:CA210446
Indel	NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG	APC	Likely pathogenic	5	112043223	112043224	AT	TAGCAAGGG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.2988_3000+893del	MSH3	Likely pathogenic	5	80150123	80151028	ATTTCATCAGAGATGTAAGTATCCGGTAAACTGTATTTAAAAAGAAATTAATTTGTAAATTATTATTTTTAAATGACAGTCATAATTGTGCCATATTTATGGGGTACAATGTGATGTTTTGAAACATATAAACAATATGGAGTGATTAAATTAACCTAATTAACACATTCCTCACCTCATTTAAATATCATTTTTTGTGGTGAGACATTTGAAATTTCTCTTAGTTATTTTGAAATATATATTATTACTGCTGTAGTCATAATACCGTTATGCAATCCCTGCATACCCTTTTGTACATGGATGATACATATTATACACATTATTTTCCTGATCTCAGTCTCCAAATACTCAAAATTATCTTTTTTATAATTGACTGCAGTCCTGCAAGTGATCATTAGAATGCTACACACTGAATTCAGACAGATTGACCCTAAATAATGTTTGTAGTTTTTTGATATATGTTCCTTTTTTTGCTGACTCAACATAAATCTGGTTGTACGAAAAAGGCCTTCCTGGCAATATTTTCACTCAGAATTATATCTTATTATCCTTGGTGAACCCTAAATCAAGAACAGGTACCATCCATCTACAGCCAAATTCCTCGAGGGAAAAACAAGGAAATAGTGCCATTTCCACTTTGTGAAATCCTTTTTTTCACCAACATCCTGAAGGATCTCACTGTGAGATCTTTGATCTCATCTCTTTGTGTTTCTATCTGATTCAGTAACATCATTCCTTCAATACATGTCTCCTTTTTTTCAGGGTGCATTTCTAAGCTTCAGTGTAAAATTTTGTTTGTGTCAAACTTTCTATCCCTGTCATTTCCATCTAACTCTCTCCTTTAGTTTACTTTCTCTATCTTGTTCATTTTGGTCTCTGCTTTTCAAATCTCCCCTTCATGGCACCT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.2655+1G>A	MSH3	Likely pathogenic	5	80088664	80088664	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.1568+1G>A	MSH3	Likely pathogenic	5	80024785	80024785	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.792+1G>A	MSH3	Likely pathogenic	5	79966129	79966129	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.1764-1G>A	MSH3	Likely pathogenic	5	80057364	80057364	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.2436-1G>A	MSH3	Pathogenic/Likely pathogenic	5	80083383	80083383	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.1896+2T>C	MSH3	Likely pathogenic	5	80057499	80057499	T	C	criteria provided, multiple submitters, no conflicts	-