Related gene-specific medical variations for Gene (Select 57057) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256716	NM_001077653.2:c.(?_-1)_(890+1_891-1)del	TBX20	Deletion	Atrial septal defect 4	GUncertain significance
Select item 3245862	NC_000007.13:g.(?_35280471)_(35293231_?)dup	TBX20	Duplication	not provided	GUncertain significance
Select item 3245861	NC_000007.13:g.(?_35242042)_(35271212_?)del	TBX20	Deletion	not provided	GUncertain significance
Select item 3238746	NM_001077653.2(TBX20):c.757A>G (p.Thr253Ala)	TBX20 (T253A)	Single nucleotide variant (missense variant)	Atrial septal defect 4	GUncertain significance
Select item 3062296	NM_001077653.2(TBX20):c.654+1G>C	TBX20	Single nucleotide variant (splice donor variant)	Atrial septal defect 4	GLikely pathogenic
Select item 1340703	GRCh37/hg19 7p14.2(chr7:35138472-35596241)x3	TBX20	Copy number gain	not provided	GUncertain significance
Select item 132833	NM_001077653.2(TBX20):c.925T>G (p.Tyr309Asp)	TBX20 (Y309D)	Single nucleotide variant (missense variant)	Atrial septal defect 4	GUncertain significance
Select item 132832	NM_001077653.2(TBX20):c.657A>C (p.Ile219=)	TBX20	Single nucleotide variant (synonymous variant)	Atrial septal defect 4	GUncertain significance
Select item 132831	NM_001077653.2(TBX20):c.655-18C>T	TBX20	Single nucleotide variant (intron variant)	Atrial septal defect 4	GUncertain significance
Select item 132830	NM_001077653.2(TBX20):c.546-1224dup	TBX20	Duplication (intron variant)	Atrial septal defect 4	GUncertain significance
Select item 132829	NM_001077653.2(TBX20):c.1392T>A	TBX20	Single nucleotide variant (genic downstream transcript variant)	Atrial septal defect 4	GUncertain significance
Select item 132828	NM_001077653.2(TBX20):c.1357T>A	TBX20	Single nucleotide variant (genic downstream transcript variant)	Atrial septal defect 4	GUncertain significance
Select item 132827	NM_001077653.2(TBX20):c.1356A>T	TBX20	Single nucleotide variant (genic downstream transcript variant)	Atrial septal defect 4	GUncertain significance
Select item 132826	NM_001077653.2(TBX20):c.1189C>T (p.Leu397=)	TBX20	Single nucleotide variant (synonymous variant)	Atrial septal defect 4	GUncertain significance
Select item 132825	NM_001077653.2(TBX20):c.1184T>G (p.Met395Arg)	TBX20 (M395R)	Single nucleotide variant (missense variant)	Atrial septal defect 4	GUncertain significance
Select item 132824	NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro)	TBX20 (T370P)	Single nucleotide variant (missense variant)	Atrial septal defect 4	GUncertain significance
Select item 132823	NM_001077653.2(TBX20):c.1003+99C>T	TBX20	Single nucleotide variant	Atrial septal defect 4	GUncertain significance
Select item 132822	NM_001077653.2(TBX20):c.1003+129T>C	TBX20	Single nucleotide variant	Atrial septal defect 4	GUncertain significance
Select item 132821	NM_001077653.2(TBX20):c.-517C>T	TBX20	Single nucleotide variant	Atrial septal defect 4	GUncertain significance