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
Duplication	NM_000535.7(PMS2):c.802dup (p.Tyr268fs)	PMS2	Pathogenic	7	6036957	6036958	T	TA	reviewed by expert panel	ClinGen:CA331767
Deletion	NM_000535.5(PMS2):c.804-?_2006+?del	PMS2	Pathogenic	7	6026390	6035264	na	na	reviewed by expert panel	-
Deletion	NM_000535.7(PMS2):c.862_863del (p.Gln288fs)	PMS2	Pathogenic	7	6035205	6035206	CTG	C	reviewed by expert panel	ClinGen:CA013065
single nucleotide variant	NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)	PMS2	Likely pathogenic	7	6035165	6035165	C	A	reviewed by expert panel	ClinGen:CA013203
Deletion	NM_000535.5(PMS2):c.904-?_(*160_?)del	PMS2	Pathogenic	7	6012870	6031688	na	na	reviewed by expert panel	-
Deletion	NM_000535.5(PMS2):c.904-?_1144+?del	PMS2	Pathogenic	7	6029431	6031688	na	na	reviewed by expert panel	-
single nucleotide variant	NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)	PMS2	Pathogenic	7	6031649	6031649	G	A	reviewed by expert panel	ClinGen:CA013335
single nucleotide variant	NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)	PMS2	Pathogenic	7	6031643	6031643	G	A	reviewed by expert panel	ClinGen:CA013352
Deletion	NM_000535.7(PMS2):c.989-296_1144+706del	PMS2	Pathogenic	7	6028725	6029882	GCCCGCCTTGGCCTCCCAAAGTACTGGGATTACAAGCATGAGCCGCTGCGCCTGGCCTAAATTCTACTGTTAGAAGTCAGGAAATCCCAGCATTTTCAGAGGCCAAGGCTAGAGGACTGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCATCATGGAGAAACCCCATCTCTAATGACAATACAAACATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACGTGGGAGGCTTCAAGGTTGCAGTGAGCTGAGATCGCATCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCCATCTCAAAAAAACAGACATGACAAGGGAGTTAAAAATGCAGTCACTGCAGACTTCTTCTAATCATATATCTTATATGACTTCATCCGTTTACAGTTTACAAAAAACTAGAGGTACTTGGAGGCAGCTACTTGGGAGGCTGAGGCAGGAAGATGGCCTGAGCCCAGGAGTGTGATGCTGCAGTGAGCTACAATGGCACCACTGCAGTCCAGCCTGGGTGACAGAGCAAGTCCCTGTCTCAAAAAAGAATTAAAAATGATAAAATAATATAAGAGACTTTGTTTTCATGTCAAAAAAAAGTTTACTTGGAAAAAATAAGGAAACACATTAGCTAAAAGCTTTAGAAGCTGTTTGTACACTGTATTTTTCTTACCTTCAACATCCAGCAGTGGCTGCTGACTGACATTTAGCTTGTTGACATCACTATCAAACATTCCTATCAAAGAGGTCTTTAAAACTGCCAACAAAAGCTTTTCCTCTTGTAGCAAAATTTGCCTTTTATCTGGAGTAACATTGATATCAACGCATTCTAAGGCAAAAAAGAAAACATATTTATTATGTTTAAATTCACTTTTATTTTATTTATTAATTATTATTTTCAGACAGCGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCTGCCTCAGCCTCCGAAGTAGCTAGGATTACAGGCAAGTGCCACCACACTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCACAACCTCAAGTGATCCA	G	reviewed by expert panel	ClinGen:CA331774
single nucleotide variant	NM_000535.7(PMS2):c.989-2A>G	PMS2	Likely pathogenic	7	6029588	6029588	T	C	reviewed by expert panel	ClinGen:CA013438