"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TBX20"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 519058	NM_001077653.2(TBX20):c.1310G>A (p.Arg437His)	TBX20 (R437H)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 518611	NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys)	TBX20 (R437C)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 1303716	NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser)	TBX20 (W349S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1493849	NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val)	TBX20 (L346V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 519119	NM_001077653.2(TBX20):c.818C>T (p.Thr273Met)	TBX20 (T273M)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 1388244	NM_001077653.2(TBX20):c.785C>T (p.Thr262Met)	TBX20 (T262M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1398868	NM_001077653.2(TBX20):c.599T>C (p.Met200Thr)	TBX20 (M200T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 590959	NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu)	TBX20 (P178L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1223434	NM_001077653.2(TBX20):c.457G>A (p.Val153Ile)	TBX20 (V153I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 4632	NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)	TBX20 (I152M)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 518959	NM_001077653.2(TBX20):c.426T>C (p.Pro142=)	TBX20	Single nucleotide variant (synonymous variant)	Atrial septal defect 4 +2 more	GLikely benign
Select item 1187558	NM_001077653.2(TBX20):c.418G>A (p.Val140Met)	TBX20 (V140M)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 1306475	NM_001077653.2(TBX20):c.413C>T (p.Ser138Leu)	TBX20 (S138L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1414602	NM_001077653.2(TBX20):c.395C>T (p.Thr132Ile)	TBX20 (T132I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1181575	NM_001077653.2(TBX20):c.86C>G (p.Ser29Cys)	TBX20 (S29C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1285113	NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys)	TBX20 (E2K)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance