リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000179.3(MSH6):c.3647-2A>C	MSH6	Pathogenic	2	48033341	48033341	A	C	reviewed by expert panel	ClinGen:CA013656
Deletion	NM_000179.3(MSH6):c.3647-6_3647-1del	MSH6	Likely pathogenic	2	48033337	48033342	TTAACAG	T	reviewed by expert panel	ClinGen:CA330546
Duplication	NM_000179.3(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer)	MSH6	Pathogenic	2	48033373	48033374	C	CAATAGCAAATGCAGTTGTTAAAGAACTTG	reviewed by expert panel	ClinGen:CA330551
Deletion	NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)	MSH6	Likely pathogenic	2	48033418	48033420	TGTC	T	reviewed by expert panel	ClinGen:CA013989
Deletion	NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs)	MSH6	Pathogenic	2	48033419	48033431	GTCGTACATTATTT	G	reviewed by expert panel	ClinGen:CA014056
Duplication	NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs)	MSH6	Pathogenic	2	48033424	48033425	C	CATTA	reviewed by expert panel	ClinGen:CA330562
Insertion	NM_000179.3(MSH6):c.3757_3758insA (p.Val1253fs)	MSH6	Pathogenic	2	48033453	48033454	G	GA	reviewed by expert panel	ClinGen:CA014173
single nucleotide variant	NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)	MSH6	Pathogenic	2	48033464	48033464	T	G	reviewed by expert panel	ClinGen:CA014232
single nucleotide variant	NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)	MSH6	Pathogenic	2	48033468	48033468	C	T	reviewed by expert panel	ClinGen:CA014244
Deletion	NM_000179.3(MSH6):c.3798_3801+26del	MSH6	Pathogenic	2	48033491	48033520	GACATATGGTATGTGCAAATTGTTTTTTTCC	G	reviewed by expert panel	ClinGen:CA330569