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_000179.2(MSH6):c.-11863_457+1921del	MSH6	Pathogenic	2	47998510	48020183	na	na	reviewed by expert panel	LOVD 3:MSH6_000002
Deletion	NM_000179.2(MSH6):c.-3097_457+2010del	MSH6	Pathogenic	2	48007276	48020272	na	na	reviewed by expert panel	-
Deletion	NM_000179.3(MSH6):c.1085del (p.Pro362fs)	MSH6	Pathogenic	2	48026205	48026205	GC	G	reviewed by expert panel	ClinGen:CA007988
Deletion	NM_000179.3(MSH6):c.1101del (p.His367fs)	MSH6	Pathogenic	2	48026223	48026223	AT	A	reviewed by expert panel	ClinGen:CA008037
single nucleotide variant	NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	MSH6	Pathogenic/Likely pathogenic	2	48026231	48026231	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008059
Deletion	NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)	MSH6	Pathogenic	2	48026258	48026262	AGAGAT	A	reviewed by expert panel	ClinGen:CA008119
Deletion	NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)	MSH6	Pathogenic	2	48026311	48026312	CTA	C	reviewed by expert panel	ClinGen:CA008276
single nucleotide variant	NM_000179.3(MSH6):c.1193T>A (p.Val398Glu)	MSH6	Pathogenic	2	48026315	48026315	T	A	reviewed by expert panel	ClinGen:CA008305
Deletion	NM_000179.3(MSH6):c.1276del (p.Cys426fs)	MSH6	Pathogenic	2	48026398	48026398	CT	C	reviewed by expert panel	ClinGen:CA008430
single nucleotide variant	NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)	MSH6	Pathogenic	2	48026421	48026421	T	A	reviewed by expert panel	ClinGen:CA008461