リンチ症候群 - MGenReviews

リンチ症候群

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
single nucleotide variant	NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)	PMS2	Pathogenic	7	6017311	6017311	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366735869
Deletion	NM_000535.7(PMS2):c.2357_2445+510del	PMS2	Pathogenic	7	6016709	6017307	CGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCA	C	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)	PMS2	Pathogenic	7	6017300	6017303	TGAAG	T	reviewed by expert panel	ClinGen:CA011351,OMIM:600259.0003
Duplication	NM_000535.7(PMS2):c.2382dup (p.Gly795fs)	PMS2	Pathogenic	7	6017281	6017282	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655959
single nucleotide variant	NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	PMS2	Pathogenic	7	6017260	6017260	G	A	reviewed by expert panel	ClinGen:CA011441,OMIM:600259.0004
single nucleotide variant	NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)	PMS2	Pathogenic	7	6017251	6017251	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366735640
single nucleotide variant	NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	PMS2	Likely pathogenic	7	6017220	6017220	G	A	reviewed by expert panel	ClinGen:CA011500
single nucleotide variant	NM_000535.7(PMS2):c.2445+1G>A	PMS2	Pathogenic/Likely pathogenic	7	6017218	6017218	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366735529
single nucleotide variant	NM_000535.7(PMS2):c.2445+1G>C	PMS2	Pathogenic/Likely pathogenic	7	6017218	6017218	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582495
single nucleotide variant	NM_000535.7(PMS2):c.2445+1G>T	PMS2	Pathogenic/Likely pathogenic	7	6017218	6017218	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577331