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
Insertion	NM_000179.2(MSH6):c.3953_3954ins32 (p.?)	MSH6	Pathogenic	2	48033742	48033743	na	na	reviewed by expert panel	-
Deletion	NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)	MSH6	Pathogenic	2	48033745	48033748	AAAGC	A	reviewed by expert panel	ClinGen:CA014833
Deletion	NM_000179.3(MSH6):c.3969_3979del (p.Phe1323fs)	MSH6	Pathogenic	2	48033758	48033768	TTGAGAAGATGA	T	reviewed by expert panel	ClinGen:CA014890
Insertion	NM_000179.3(MSH6):c.3984_3985insATCA (p.Ser1329fs)	MSH6	Pathogenic	2	48033773	48033774	G	GATCA	reviewed by expert panel	ClinGen:CA015027
Duplication	NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)	MSH6	Pathogenic	2	48033769	48033770	A	ATCAG	reviewed by expert panel	ClinGen:CA015007
Duplication	NM_000179.3(MSH6):c.3996_4000dup (p.Arg1334fs)	MSH6	Pathogenic	2	48033784	48033785	T	TATTTC	reviewed by expert panel	ClinGen:CA330585
single nucleotide variant	NM_000179.3(MSH6):c.4001+2T>C	MSH6	Pathogenic	2	48033792	48033792	T	C	reviewed by expert panel	ClinGen:CA015138
single nucleotide variant	NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)	MSH6	Pathogenic	2	48033790	48033790	G	A	reviewed by expert panel	ClinGen:CA015202
Inversion	NM_000179.3(MSH6):c.4002-31_4002-8inv	MSH6	Pathogenic	2	48033887	48033910	AAACTTTTTTTTTTTTTTTTTTAA	TTAAAAAAAAAAAAAAAAAAGTTT	reviewed by expert panel	-
single nucleotide variant	NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)	MSH6	Pathogenic	2	48018231	48018231	G	A	reviewed by expert panel	ClinGen:CA015491