"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TBX5"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307266	NM_181486.4(TBX5):c.*1511G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 882802	NM_181486.4(TBX5):c.*1071C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 696773	NM_181486.4(TBX5):c.1476C>T (p.Gly492=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome +3 more	GLikely benign
Select item 1404558	NM_181486.4(TBX5):c.1396G>A (p.Val466Met)	TBX5 (V416M +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 477654	NM_181486.4(TBX5):c.1064G>A (p.Arg355His)	TBX5 (R355H +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 650528	NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)	TBX5 (S251C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 499465	NM_181486.4(TBX5):c.848C>A (p.Thr283Asn)	TBX5 (T283N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 518540	NM_181486.4(TBX5):c.781A>T (p.Ser261Cys)	TBX5 (S261C +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 7993	NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)	TBX5 (R237Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 487603	NM_181486.4(TBX5):c.618T>G (p.Phe206Leu)	TBX5 (F206L +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 970384	NM_181486.4(TBX5):c.564G>A (p.Ala188=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome +3 more	GConflicting classifications of pathogenicity
Select item 519342	NM_181486.4(TBX5):c.510+5G>A	TBX5	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 307307	NM_181486.4(TBX5):c.354T>C (p.Asp118=)	TBX5	Single nucleotide variant (synonymous variant)	TBX5-related condition +4 more	GBenign/Likely benign
Select item 213813	NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)	TBX5 (D111Y +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +5 more	GBenign/Likely benign
Select item 213825	NM_181486.4(TBX5):c.316A>G (p.Ile106Val)	TBX5 (I106V +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +4 more	GBenign/Likely benign
Select item 289008	NM_181486.4(TBX5):c.242+4A>G	TBX5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 706815	NM_181486.4(TBX5):c.147+9A>T	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2 +1 more	GLikely benign
Select item 426901	NM_181486.4(TBX5):c.77C>T (p.Ser26Leu)	TBX5 (S26L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 519312	NM_181486.4(TBX5):c.38C>A (p.Thr13Lys)	TBX5 (T13K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance