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.986C>G (p.Ser329Ter)	PMS2	Pathogenic	7	6031606	6031606	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.33del (p.Ala12fs)	PMS2	Pathogenic	7	6045653	6045653	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000249.4(MLH1):c.1633dup (p.Thr545fs)	MLH1	Pathogenic/Likely pathogenic	3	37081748	37081749	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)	MSH2	Pathogenic/Likely pathogenic	2	47635682	47635682	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.55del (p.Asp19fs)	MSH6	Likely pathogenic	2	48010427	48010427	TG	T	criteria provided, single submitter	-
Deletion	NM_000179.3(MSH6):c.215_258del (p.Leu72fs)	MSH6	Likely pathogenic	2	48010584	48010627	AACCTCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)	MSH6	Pathogenic/Likely pathogenic	2	48018114	48018114	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer)	MSH6	Likely pathogenic	2	48027814	48027815	TCC	T	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)	MSH6	Pathogenic/Likely pathogenic	2	48030753	48030754	G	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs)	MSH6	Likely pathogenic	2	48033624	48033630	CAGCCAGG	C	criteria provided, single submitter	-