ClinVar for MedGen (Select 1794251) - ClinVar - NCBI

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Items: 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18051101.	NM_005901.6(SMAD2):c.748_754del (p.Ser250fs) GRCh37: Chr18:45377675-45377681 GRCh38: Chr18:47851304-47851310	SMAD2	S220fs, S250fs	Loeys-Dietz syndrome 6	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 18037052.	NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu) GRCh37: Chr18:45372171 GRCh38: Chr18:47845800	SMAD2	G303E, G333E	Loeys-Dietz syndrome 6	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 17227663.	NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg) GRCh37: Chr18:45372110 GRCh38: Chr18:47845739	SMAD2	S323R, S353R	Loeys-Dietz syndrome 6	Likely pathogenic (Nov 9, 2022)	criteria provided, single submitter
Select item 16854464.	NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg) GRCh37: Chr18:45374935 GRCh38: Chr18:47848564	SMAD2	T273R, T303R	Loeys-Dietz syndrome 6	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 15219435.	NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys) GRCh37: Chr18:45368218 GRCh38: Chr18:47841847	SMAD2	R462C, R432C	Loeys-Dietz syndrome 6, not provided	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13275386.	NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr) GRCh37: Chr18:45372087 GRCh38: Chr18:47845716	SMAD2	N331T	Loeys-Dietz syndrome 6	Pathogenic (Dec 10, 2021)	no assertion criteria provided
Select item 13275377.	NM_005901.6(SMAD2):c.612dup (p.Asn205Ter) GRCh37: Chr18:45394736-45394737 GRCh38: Chr18:47868365-47868366	SMAD2	N175, N205	Loeys-Dietz syndrome 6	Pathogenic (Dec 10, 2021)	no assertion criteria provided
Select item 13275348.	NM_005901.6(SMAD2):c.833C>T (p.Ala278Val) GRCh37: Chr18:45375010 GRCh38: Chr18:47848639	SMAD2	A278V, A248V	not provided	Uncertain significance (Oct 31, 2019)	criteria provided, single submitter
Select item 13275339.	NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg) GRCh37: Chr18:45371828 GRCh38: Chr18:47845457	SMAD2	Q388R, Q358R	Loeys-Dietz syndrome 6	Pathogenic (Dec 10, 2021)	no assertion criteria provided
Select item 132753110.	NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg) GRCh37: Chr18:45368233 GRCh38: Chr18:47841862	SMAD2	G457R, G427R	not provided	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 132753011.	NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser) GRCh37: Chr18:45368256 GRCh38: Chr18:47841885	SMAD2	L449S, L419S	Loeys-Dietz syndrome 6	Pathogenic (Dec 10, 2021)	no assertion criteria provided
Select item 78746612.	NM_005901.6(SMAD2):c.828G>A (p.Ser276=) GRCh37: Chr18:45375015 GRCh38: Chr18:47848644	SMAD2		not specified, not provided, Loeys-Dietz syndrome 6, Congenital heart defects, multiple types, 8, with or without heterotaxy	Benign (Jul 21, 2023)	criteria provided, multiple submitters, no conflicts