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
Deletion	NM_000179.3(MSH6):c.1129_1130del (p.Lys377fs)	MSH6	Pathogenic	2	48026249	48026250	GAA	G	criteria provided, single submitter	-
Duplication	NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)	MSH6	Pathogenic	2	48026733	48026734	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000179.3(MSH6):c.2149_2155del (p.Val717fs)	MSH6	Pathogenic	2	48027269	48027275	ACAGTCAG	A	criteria provided, single submitter	-
Deletion	NM_000249.4(MLH1):c.393_396del (p.Asp132fs)	MLH1	Pathogenic	3	37048494	37048497	CAGAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000249.4(MLH1):c.503del (p.Asn168fs)	MLH1	Pathogenic	3	37050349	37050349	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000249.4(MLH1):c.1569del (p.Met524fs)	MLH1	Pathogenic	3	37081687	37081687	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs)	PMS2	Pathogenic	7	6026483	6026487	TTGCTG	T	criteria provided, single submitter	-
Deletion	NM_000535.7(PMS2):c.1908del (p.Gln637fs)	PMS2	Pathogenic	7	6026488	6026488	GT	G	criteria provided, single submitter	-
Duplication	NM_000535.7(PMS2):c.1639dup (p.Ser547fs)	PMS2	Pathogenic/Likely pathogenic	7	6026756	6026757	G	GA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000535.7(PMS2):c.1206del (p.Gln402fs)	PMS2	Pathogenic	7	6027190	6027190	AT	A	criteria provided, multiple submitters, no conflicts	-