ClinVar for MedGen (Select 107811) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 139171.	NM_020975.6(RET):c.1900T>C (p.Cys634Arg) GRCh37: Chr10:43609948 GRCh38: Chr10:43114500	RET	C634R, C380R, C239R, C295R, C304R, C392R, C502R, C459R, C292R, C335R, C488R, C538R, C151R, C199R, C591R	Thyroid gland carcinoma, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, not provided, Multiple endocrine neoplasia, type 2a	Pathogenic (May 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139062.	NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C] GRCh37: Chr10:43609948 Chr10:43609945 Chr10:43609944 GRCh38: Chr10:43114500 Chr10:43114497 Chr10:43114496	RET, RET, RET	C634R, C380R, C239R, C295R, C304R, C392R, C502R, C459R, C292R, C335R, C488R, C538R, C151R, C199R, C591R, L379V, L633V, L590V, L150V, L198V, L238V, L391V, L458V, L291V, L303V, L334V, L487V, L537V, L294V, L501V, E378D, E632D, E149D, E197D, E302D, E486D, E500D, E237D, E290D, E293D, E536D, E589D, E333D, E390D, E457D	Multiple endocrine neoplasia, type 2a	Pathogenic (Jan 1, 1994)	no assertion criteria provided

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