"TGFB3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12475	NM_003239.5(TGFB3):c.*495C>T	TGFB3	Single nucleotide variant (3 prime UTR variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2630779	NM_003239.5(TGFB3):c.1191A>T (p.Lys397Asn)	TGFB3 (K397N)	Single nucleotide variant (missense variant)	TGFB3-related disorder	GUncertain significance
Select item 2633197	NM_003239.5(TGFB3):c.1162A>T (p.Ile388Phe)	TGFB3 (I388F)	Single nucleotide variant (missense variant)	TGFB3-related disorder	GUncertain significance
Select item 1002073	NM_003239.5(TGFB3):c.1135G>A (p.Val379Met)	TGFB3 (V379M)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 569656	NM_003239.5(TGFB3):c.1001A>G (p.His334Arg)	TGFB3 (H334R)	Single nucleotide variant (missense variant)	Rienhoff syndrome +2 more	GUncertain significance
Select item 239524	NM_003239.5(TGFB3):c.873G>A (p.Pro291=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome +4 more	GLikely benign
Select item 1764216	NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)	TGFB3 (D289N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 3052387	NM_003239.5(TGFB3):c.804G>A (p.Lys268=)	TGFB3	Single nucleotide variant (synonymous variant)	TGFB3-related disorder	GLikely benign
Select item 1215874	NM_003239.5(TGFB3):c.792G>A (p.Leu264=)	TGFB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632539	NM_003239.5(TGFB3):c.685T>C (p.Cys229Arg)	TGFB3 (C229R)	Single nucleotide variant (missense variant)	TGFB3-related disorder	GUncertain significance
Select item 416064	NM_003239.5(TGFB3):c.504C>T (p.Ile168=)	TGFB3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 410273	NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)	TGFB3 (R163Q)	Single nucleotide variant (missense variant)	TGFB3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1140861	NM_003239.5(TGFB3):c.353-14_353-10del	TGFB3	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 1 +2 more	GLikely benign
Select item 192131	NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)	TGFB3 (S98L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 1302541	NM_003239.5(TGFB3):c.260G>T (p.Arg87Met)	TGFB3 (R87M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2630839	NM_003239.5(TGFB3):c.202C>T (p.Gln68Ter)	TGFB3 (Q68*)	Single nucleotide variant (nonsense)	TGFB3-related disorder	GLikely pathogenic
Select item 416065	NM_003239.5(TGFB3):c.193G>A (p.Val65Ile)	TGFB3 (V65I)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 2630819	NM_003239.5(TGFB3):c.190C>G (p.His64Asp)	TGFB3 (H64D)	Single nucleotide variant (missense variant)	TGFB3-related disorder	GUncertain significance
Select item 239517	NM_003239.5(TGFB3):c.179C>T (p.Thr60Met)	TGFB3 (T60M)	Single nucleotide variant (missense variant)	Rienhoff syndrome +4 more	GLikely benign
Select item 807147	NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu)	TGFB3 (P59L)	Single nucleotide variant (missense variant)	TGFB3-related disorder +3 more	GUncertain significance
Select item 2631124	NM_003239.5(TGFB3):c.156del (p.Arg52fs)	TGFB3 (R52fs)	Deletion (frameshift variant)	TGFB3-related disorder	GLikely pathogenic
Select item 2633286	NM_003239.5(TGFB3):c.22G>A (p.Ala8Thr)	TGFB3 (A8T)	Single nucleotide variant (missense variant)	TGFB3-related disorder	GUncertain significance
Select item 3031285	NM_003239.5(TGFB3):c.-23T>C	TGFB3	Single nucleotide variant (5 prime UTR variant)	TGFB3-related disorder	GLikely benign
Select item 503751	NM_003239.5(TGFB3):c.-31C>T	TGFB3	Single nucleotide variant (5 prime UTR variant)	TGFB3-related disorder +1 more	GConflicting classifications of pathogenicity

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Items: 24