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_000251.3(MSH2):c.1373del (p.Thr457_Leu458insTer)	MSH2	Pathogenic	2	47672781	47672781	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795776
Duplication	NM_000179.3(MSH6):c.2260dup (p.Thr754fs)	MSH6	Pathogenic/Likely pathogenic	2	48027381	48027382	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795770
Duplication	NM_000179.3(MSH6):c.2419dup (p.Glu807fs)	MSH6	Pathogenic	2	48027540	48027541	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795771
Deletion	NM_000179.3(MSH6):c.3089_3092del (p.Lys1030fs)	MSH6	Pathogenic	2	48028209	48028212	TGAAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795733
single nucleotide variant	NM_000179.3(MSH6):c.3173-2A>C	MSH6	Pathogenic/Likely pathogenic	2	48030557	48030557	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346757808
Indel	NM_000179.3(MSH6):c.374_382delinsT (p.Lys125fs)	MSH6	Pathogenic	2	48018179	48018187	AATCAGTCC	T	criteria provided, single submitter	ClinGen:CA658795741
Deletion	NM_000179.3(MSH6):c.3097_3100del (p.Met1033fs)	MSH6	Pathogenic	2	48028216	48028219	CTGCA	C	criteria provided, single submitter	ClinGen:CA658795734
Deletion	NM_000179.3(MSH6):c.3555_3556del (p.Ser1185_Gly1186insTer)	MSH6	Pathogenic	2	48032165	48032166	CAG	C	criteria provided, single submitter	ClinGen:CA658795747
single nucleotide variant	NM_000179.3(MSH6):c.3557-1G>T	MSH6	Likely pathogenic	2	48032756	48032756	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346760400
Duplication	NM_000179.3(MSH6):c.1102_1162dup (p.His388delinsArgAsnPheArgMetAlaTer)	MSH6	Pathogenic	2	48026223	48026224	T	TGAAACTTTAGAATGGCTTAAGGAGGAAAAGAGAAGAGATGAGCACAGGAGGAGGCCTGATC	criteria provided, single submitter	ClinGen:CA658795737