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.1A>G (p.Met1Val)	PMS2	Likely pathogenic	7	6048650	6048650	T	C	reviewed by expert panel	ClinGen:CA010642
single nucleotide variant	NM_000535.7(PMS2):c.2007-1G>A	PMS2	Likely pathogenic	7	6022623	6022623	C	T	reviewed by expert panel	ClinGen:CA010684
single nucleotide variant	NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	PMS2	Pathogenic/Likely pathogenic	7	6022516	6022516	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010854,UniProtKB:P54278#VAR_012974
single nucleotide variant	NM_000535.7(PMS2):c.2174+1G>A	PMS2	Pathogenic	7	6022454	6022454	C	T	reviewed by expert panel	ClinGen:CA010965
Deletion	NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)	PMS2	Pathogenic	7	6018306	6018310	CAGTTA	C	reviewed by expert panel	ClinGen:CA011049
Deletion	NM_000535.7(PMS2):c.2276-113_2445+1596del	PMS2	Pathogenic	7	6015623	6017501	AGCACTTTGGGAGACCAAGGCGGGCAGATCATGAGGTCAGGAGATCAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTATTAAAAATATAAAAATTAGCCAGGTGTGGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACATCACTGCACTCCAGCCTAGTAACAGAGCGAGACTCCGTCTCAAAAACAGACAAAGAAAAATGCTGTTTGAATCTCTTGACTGTGCTTACTGGCATCTAATGCGTGTCATTTATTTGTGGTGATGCCTATTTCTCCCCACTGTCTGCTCCACAGGGGCAGGGGCTGCAGCCGCCTTGTTACCTCTGTGTCCCGAGCACCTGGAGCAGGGCGGGCCCCACATCAGGGGCTCAAGGAGCACCTGCTGAATAAATAAAGGAATGGCGTCCTGGCCCTTCCCAGTGGCCAGCTGATACACAGTCACTTTTCTTGGACATCAGGCTAATCCCCACTGCAGGCAGAACCACTGCTGCCACCTTCCCACACCAACCGAAGCAGCGGCAGTGACGCCACGTGCAATGACAACCACGGCACCCCGTGAAGCACCTGCTGCCTCGATGACTCTGCAGAATCGTGTCCAATGTCGCCGAGTCCTGGCAGCAGCAAATCTTTATCTCCCAATGTTGTTATGACCCATAAGGTCCATAGACGAACAAGGTACCTCAAACGCTAACTGCGTTGGAGTCAACCAAAGCTCGGAGATAGAATACTGGCCGGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGGGACAGAGGGAGAATCTGTCTAAAAAAAAAAAAAAGAAGAATTCTGGGTTTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCT	A	reviewed by expert panel	ClinGen:CA331753
Deletion	NM_000535.7(PMS2):c.2276-91_2445+790del	PMS2	Pathogenic	7	6016429	6017479	AGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGACAAGGGGCAAAAGGAGACCATGTTTCTACAAAAAATTTAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTGGTCACAACTACTTGGGAGACAGAGAGAGGAGGATCGCTTCAGCCTGGTACGTCAAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCCTGGGGGACAGAGGGAGAATCTGTCTAAAAAAAAAAAAAAGAAGAATTCTGGGTTTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAGTTCATCGACGTCCTGGGGTCCGAAGGTCCAGTTTTTACTAGTTGGCAAGGAAATCAGTTTAGCCCTTTCAGTGACTGGAGCTAAAAGAATACAATTTTGAGAAAAATCCATGACTTGACAAACACGTTTCACTTGAAAGCTACTTAGGATGAACATCTGAGGCCGGGCGTG	A	reviewed by expert panel	ClinGen:CA331754
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
Indel	NM_000535.7(PMS2):c.24-12_107delinsAAAT	PMS2	Pathogenic	7	6045579	6045674	CTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA	ATTT	reviewed by expert panel	ClinGen:CA331757
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