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.1867del (p.Ala623fs)	MSH2	Pathogenic	2	47702271	47702271	AG	A	criteria provided, single submitter	ClinGen:CA10584217
Deletion	NM_000251.2(MSH2):c.-125_1076+?del	MSH2	Pathogenic	2	47630206	47656880	na	na	criteria provided, single submitter	LOVD 3:MSH2_000235,OMIM:609309.0015
Deletion	NM_000251.2(MSH2):c.-125_645+?del	MSH2	Pathogenic	2	47630206	47637511	na	na	criteria provided, single submitter	-
Deletion	NM_000179.2(MSH6):c.458-?_4001+?del	MSH6	Pathogenic	2	48023033	48033790	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn)	TGFBR2	Pathogenic	3	30713506	30713506	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587565
single nucleotide variant	NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn)	TGFBR2	Likely pathogenic	3	30713864	30713864	G	A	criteria provided, single submitter	ClinGen:CA10587567
single nucleotide variant	NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val)	TGFBR2	Pathogenic	3	30713811	30713811	A	T	criteria provided, single submitter	ClinGen:CA10587568
single nucleotide variant	NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr)	TGFBR2	Pathogenic	3	30713853	30713853	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587569
single nucleotide variant	NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala)	TGFBR2	Pathogenic	3	30715603	30715603	A	G	criteria provided, single submitter	ClinGen:CA10587570
single nucleotide variant	NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30715678	30715678	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P37173#VAR_066725,ClinGen:CA10588355