ClinVar for MedGen (Select 56525) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11848281.	Single allele GRCh37: Chr8:11403560-11853760	DEFB136, BLK, CTSB, DEFB134, DEFB135, FDFT1, GATA4, NEIL2		Thoracic aortic aneurysm	Likely pathogenic	no assertion criteria provided
Select item 11848272.	NM_019055.6(ROBO4):c.703G>A (p.Val235Met) GRCh37: Chr11:124765785 GRCh38: Chr11:124895889	ROBO4	V235M, V90M	Thoracic aortic aneurysm	Likely pathogenic	no assertion criteria provided
Select item 11848263.	NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter) GRCh37: Chr11:124756919 GRCh38: Chr11:124887023	ROBO4	E652, E797	Thoracic aortic aneurysm	Likely pathogenic	no assertion criteria provided
Select item 11848254.	NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala) GRCh37: Chr15:66995682 GRCh38: Chr15:66703344	SMAD6	G29A	Thoracic aortic aneurysm	Likely pathogenic	no assertion criteria provided
Select item 11745755.	NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro) GRCh37: Chr15:66996168 GRCh38: Chr15:66703830	SMAD6	L191P	Frontal bossing, Plagiocephaly, Radioulnar synostosis, Premature closure of fontanelles, Thoracic aortic aneurysm	Conflicting interpretations of pathogenicity (Jun 20, 2020)	no assertion criteria provided
Select item 4090416.	NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) GRCh37: Chr9:139404348 GRCh38: Chr9:136509896	NOTCH1	G936S	Adams-Oliver syndrome 5	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 2390997.	NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) GRCh37: Chr8:11615887 GRCh38: Chr8:11758378	GATA4	A411V, A412V, A205V, A163V	not provided, Cardiovascular phenotype, Ventricular septal defect 1, Atrial septal defect 2, Atrioventricular septal defect 4, Tetralogy of Fallot, Testicular anomalies with or without congenital heart disease, Atrioventricular septal defect 4	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1653818.	NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) GRCh37: Chr9:101867538-101867546 GRCh38: Chr9:99105256-99105264	TGFBR1		not provided, Ehlers-Danlos syndrome, not specified, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1392179.	NM_005902.4(SMAD3):c.309A>G (p.Leu103=) GRCh37: Chr15:67457335 GRCh38: Chr15:67164997	SMAD3		Aneurysm-osteoarthritis syndrome, not specified, Familial thoracic aortic aneurysm and aortic dissection	Benign (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13921210.	NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) GRCh37: Chr15:67457698 GRCh38: Chr15:67165360	SMAD3	I170V, I65V, I126V	not specified, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13627911.	NM_001613.4(ACTA2):c.370-19T>C GRCh37: Chr10:90701645 GRCh38: Chr10:88941888	ACTA2		not specified, Aortic aneurysm, familial thoracic 6	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4465812.	NM_003242.6(TGFBR2):c.455-4T>A GRCh37: Chr3:30713126 GRCh38: Chr3:30671634	TGFBR2		Cardiovascular phenotype, not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Loeys-Dietz syndrome 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4465213.	NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) GRCh37: Chr3:30713842 GRCh38: Chr3:30672350	TGFBR2		not specified, Cardiovascular phenotype, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Loeys-Dietz syndrome 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4465114.	NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) GRCh37: Chr3:30713834 GRCh38: Chr3:30672342	TGFBR2	V387M, V412M, V267M, V423M, V448M, V396M, V352M, V292M, V388M	Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Ehlers-Danlos syndrome, not specified, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndromeLoeys-Dietz syndrome 2, ...see more	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 3686715.	NM_003242.6(TGFBR2):c.263+7A>G GRCh37: Chr3:30686414 GRCh38: Chr3:30644922	TGFBR2		not specified, not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Loeys-Dietz syndrome 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts