ClinVar for MedGen (Select 56525) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184828	Single allele	BLK, CTSB +6 more	Duplication	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1184827	NM_019055.6(ROBO4):c.703G>A (p.Val235Met)	ROBO4 (V235M +1 more)	Single nucleotide variant (missense variant)	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1184826	NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter)	ROBO4 (E652* +1 more)	Single nucleotide variant (nonsense)	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1184825	NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala)	SMAD6 (G29A)	Single nucleotide variant (missense variant +1 more)	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1174575	NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro)	SMAD6 (L191P)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis +4 more	GConflicting classifications of pathogenicity
Select item 409041	NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser)	NOTCH1 (G936S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 239099	NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)	GATA4 (A411V +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 165381	NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)	TGFBR1	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome +5 more	GBenign/Likely benign
Select item 139217	NM_005902.4(SMAD3):c.309A>G (p.Leu103=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome +3 more	GBenign
Select item 139212	NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)	SMAD3 (I170V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 136279	NM_001613.4(ACTA2):c.370-19T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6 +2 more	GBenign
Select item 44658	NM_003242.6(TGFBR2):c.455-4T>A	TGFBR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign
Select item 44652	NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Marfan syndrome +6 more	GBenign
Select item 44651	NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	TGFBR2 (V387M +8 more)	Single nucleotide variant (missense variant)	Malignant tumor of esophagus +8 more	GConflicting classifications of pathogenicity
Select item 36867	NM_003242.6(TGFBR2):c.263+7A>G	TGFBR2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign