C0265264[trait identifier] AND "Centre de Biologie Pathologie Génétiqu - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633737	NM_181486.4(TBX5):c.1346del (p.Gln449fs)	TBX5 (Q399fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633723	NM_181486.4(TBX5):c.1303del (p.Leu435fs)	TBX5 (L435fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633722	NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter)	TBX5 (Y423* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633741	NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter)	TBX5 (W401* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633731	NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter)	TBX5 (Q362* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633769	NM_181486.4(TBX5):c.1074del (p.Pro359fs)	TBX5 (P359fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633729	NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter)	TBX5 (E349* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633764	NM_181486.4(TBX5):c.978del (p.Glu328fs)	TBX5 (E278fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633771	NM_181486.4(TBX5):c.943C>T (p.Gln315Ter)	TBX5 (Q315* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633765	NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter)	TBX5 (Y311* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633759	NM_181486.4(TBX5):c.924del (p.Asn309fs)	TBX5 (N259fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633725	NM_181486.4(TBX5):c.879T>A (p.Cys293Ter)	TBX5 (C293* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 569967	NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)	TBX5 (Q290* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 2	GPathogenic
Select item 633743	NM_181486.4(TBX5):c.845C>T (p.Ser282Phe)	TBX5 (S282F +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GPathogenic
Select item 213832	NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)	TBX5 (R279* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 633727	NM_181486.4(TBX5):c.755+2T>C	TBX5	Single nucleotide variant (splice donor variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 265264	NM_181486.4(TBX5):c.755G>C (p.Ser252Thr)	TBX5 (S252T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 633738	NM_181486.4(TBX5):c.728_729del (p.Glu243fs)	TBX5 (E193fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633728	NM_181486.4(TBX5):c.713dup (p.Ser239fs)	TBX5 (S189fs +1 more)	Duplication (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 7993	NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)	TBX5 (R237Q +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +3 more	GPathogenic/Likely pathogenic
Select item 7995	NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)	TBX5 (R237W +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +1 more	GPathogenic
Select item 633754	NM_181486.4(TBX5):c.703G>T (p.Gly235Ter)	TBX5 (G235* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633745	NM_181486.4(TBX5):c.694T>G (p.Phe232Val)	TBX5 (F232V +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 633744	NM_181486.4(TBX5):c.680_683del (p.Ile227fs)	TBX5 (I177fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633752	NM_181486.4(TBX5):c.677A>G (p.Lys226Arg)	TBX5 (K226R +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 633770	NM_181486.4(TBX5):c.674T>G (p.Leu225Ter)	TBX5 (L225* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 449105	NM_181486.4(TBX5):c.668C>T (p.Thr223Met)	TBX5 (T223M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 633751	NM_181486.4(TBX5):c.664-2A>G	TBX5	Single nucleotide variant (splice acceptor variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 2579687	NM_181486.4(TBX5):c.664-342G>T	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 633739	NM_181486.4(TBX5):c.635_636del (p.Ile212fs)	TBX5 (I162fs +1 more)	Microsatellite (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633726	NM_181486.4(TBX5):c.593dup (p.Asn198fs)	TBX5 (N148fs +1 more)	Duplication (frameshift variant)	Aortic valve disease 2 +1 more	GPathogenic
Select item 279906	NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)	TBX5 (S196* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 2 +3 more	GPathogenic
Select item 633756	NM_181486.4(TBX5):c.559_572dup (p.Asn191fs)	TBX5 (N191fs +1 more)	Duplication (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633732	NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter)	TBX5 (Y179* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633767	NM_181486.4(TBX5):c.520A>G (p.Asn174Asp)	TBX5 (N174D +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 633761	NM_181486.4(TBX5):c.510+5G>C	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 519342	NM_181486.4(TBX5):c.510+5G>A	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 633720	NM_181486.4(TBX5):c.510+1G>T	TBX5	Single nucleotide variant (splice donor variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 633735	NM_181486.4(TBX5):c.500del (p.Pro167fs)	TBX5 (P117fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633747	NM_181486.4(TBX5):c.496del (p.Asp166fs)	TBX5 (D116fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633753	NM_181486.4(TBX5):c.457dup (p.Val153fs)	TBX5 (V153fs +1 more)	Duplication (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 235885	NM_181486.4(TBX5):c.444G>A (p.Trp148Ter)	TBX5 (W148* +1 more)	Single nucleotide variant (nonsense)	Atrial septal defect 1 +1 more	GPathogenic
Select item 633750	NM_181486.4(TBX5):c.426del (p.Ala143fs)	TBX5 (A143fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 2579690	NM_181486.4(TBX5):c.362G>T (p.Trp121Leu)	TBX5 (W121L +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 2579689	NM_181486.4(TBX5):c.353A>G (p.Asp118Gly)	TBX5 (D118G +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GPathogenic
Select item 633730	NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter)	TBX5 (Y114* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633763	NM_181486.4(TBX5):c.336del (p.His112fs)	TBX5 (H112fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633755	NM_181486.4(TBX5):c.295A>T (p.Lys99Ter)	TBX5 (K99* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633772	NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter)	TBX5 (Y87* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 633766	NM_181486.4(TBX5):c.254C>T (p.Pro85Leu)	TBX5 (P85L +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 633734	NM_181486.4(TBX5):c.253C>T (p.Pro85Ser)	TBX5 (P85S +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 633721	NM_181486.4(TBX5):c.242+5G>A	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 2579688	NM_181486.4(TBX5):c.242G>T (p.Arg81Met)	TBX5 (R31M +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 633762	NM_181486.4(TBX5):c.148-2A>G	TBX5	Single nucleotide variant (splice acceptor variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 2574518	NM_181486.4(TBX5):c.148-3C>A	TBX5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 633757	NM_181486.4(TBX5):c.119C>A (p.Ser40Ter)	TBX5 (S40*)	Single nucleotide variant (nonsense +1 more)	Holt-Oram syndrome	GPathogenic
Select item 633768	NM_181486.4(TBX5):c.73_74insT (p.Asp25fs)	TBX5 (D25fs)	Insertion (frameshift variant +1 more)	Holt-Oram syndrome	GPathogenic
Select item 633773	NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del	TBX5	Deletion	Holt-Oram syndrome	GPathogenic
Select item 633760	NM_000192.3:c.946C>T	TBX5	Single nucleotide variant	Holt-Oram syndrome	GPathogenic
Select item 633758	NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del	TBX5	Deletion	Holt-Oram syndrome	GPathogenic
Select item 633749	NM_000192.3:c.(?_-667)_(*1602_?)del	TBX5	Deletion	Holt-Oram syndrome	GPathogenic
Select item 633748	NM_000192.3:c.67_81delins	TBX5	Indel	Holt-Oram syndrome	GPathogenic
Select item 633746	NM_000192.3:c.1033_1034dupGA	TBX5	Duplication	Holt-Oram syndrome	GPathogenic
Select item 633742	NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del	TBX5	Deletion	Holt-Oram syndrome	GPathogenic
Select item 633740	NM_000192.3:c.(?_-667)_(755+1_756-1)dup	TBX5	Duplication	Holt-Oram syndrome	GPathogenic
Select item 633736	NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup	TBX5	Duplication	Holt-Oram syndrome	GPathogenic
Select item 633733	NM_000192.3:c.(?_-38)_(242+1_243-1)dup	TBX5	Duplication	Holt-Oram syndrome	GPathogenic
Select item 633724	NM_000192.3:c.(362+1_363-1)_(*1602_?)del	TBX5	Deletion	Holt-Oram syndrome	GPathogenic
Select item 633719	NM_000192.3:c.(982+1_983-1)_(*1602_?)del	TBX5	Deletion	Holt-Oram syndrome	GPathogenic

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Items: 69