ClinVar for MedGen (Select 369556) - ClinVar

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Items: 43

	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 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 2436989	NM_001077653.2(TBX20):c.1124T>C (p.Ile375Thr)	TBX20 (I375T)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +1 more	GUncertain significance
Select item 1677798	NM_001077653.2(TBX20):c.493C>T (p.His165Tyr)	TBX20 (H165Y)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +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 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 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 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 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 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 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
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 1222712	NM_001077653.2(TBX20):c.655-44G>A	TBX20	Single nucleotide variant (intron variant)	Atrial septal defect 4 +1 more	GBenign
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 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 1174684	NM_001077653.2(TBX20):c.545+13A>G	TBX20	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 802304	NM_001077653.2(TBX20):c.546-8T>A	TBX20	Single nucleotide variant (intron variant)	Atrial septal defect 4 +1 more	GConflicting classifications of pathogenicity
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 590957	NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)	TBX20 (S125*)	Single nucleotide variant (nonsense)	Atrial septal defect 4	GLikely pathogenic
Select item 590956	NM_001077653.2(TBX20):c.117C>G (p.Ile39Met)	TBX20 (I39M)	Single nucleotide variant (missense variant)	Atrial septal defect 4	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 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 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 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 518385	NM_001077653.2(TBX20):c.39T>C (p.Ser13=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 518383	NM_001077653.2(TBX20):c.1017A>C (p.Thr339=)	TBX20	Single nucleotide variant (synonymous variant)	Atrial septal defect 4 +2 more	GBenign/Likely benign
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
Select item 4634	NM_001077653.2(TBX20):c.363C>G (p.Ile121Met)	TBX20 (I121M)	Single nucleotide variant (missense variant)	Atrial septal defect 4	GPathogenic
Select item 4633	NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter)	TBX20 (Q195*)	Single nucleotide variant (nonsense)	Atrial septal defect 4	GPathogenic
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

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Links from MedGen

Items: 43