ClinVar for MedGen (Select 120524) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 221

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254820	NM_181486.4(TBX5):c.243-1G>T	TBX5	Single nucleotide variant (splice acceptor variant)	Holt-Oram syndrome	GPathogenic
Select item 3236341	NM_181486.4(TBX5):c.464T>C (p.Phe155Ser)	TBX5 (F105S +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 3068626	NM_181486.4(TBX5):c.563C>T (p.Ala188Val)	TBX5 (A138V +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 2691618	NM_181486.4(TBX5):c.529del (p.His177fs)	TBX5 (H127fs +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 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 2579687	NM_181486.4(TBX5):c.664-342G>T	TBX5	Single nucleotide variant (intron 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 2573991	NM_181486.4(TBX5):c.694T>C (p.Phe232Leu)	TBX5 (F182L +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GPathogenic
Select item 2502300	NM_181486.4(TBX5):c.672del (p.Gln224fs)	TBX5 (Q174fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 2444344	NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)	TBX5 (Y37* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GLikely pathogenic
Select item 1806242	NM_181486.4(TBX5):c.634A>G (p.Ile212Val)	TBX5 (I162V +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 1805037	NM_181486.4(TBX5):c.663+4A>T	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome	GUncertain significance
Select item 1769845	NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)	TBX5 (A390V +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome +1 more	GUncertain significance
Select item 1709051	NM_181486.4(TBX5):c.394C>A (p.Pro132Thr)	TBX5 (P132T +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 1702968	NM_181486.4(TBX5):c.454C>G (p.Leu152Val)	TBX5 (L102V +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 1416362	NM_181486.4(TBX5):c.895G>A (p.Gly299Ser)	TBX5 (G249S +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome +2 more	GConflicting classifications of pathogenicity
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 1299664	NM_181486.4(TBX5):c.166del (p.Val56fs)	TBX5 (V56fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 1175344	NM_181486.4(TBX5):c.262A>T (p.Lys88Ter)	TBX5 (K38* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 1032249	NM_181486.4(TBX5):c.704G>A (p.Gly235Glu)	TBX5 (G185E +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 1032248	NM_181486.4(TBX5):c.362+1G>A	TBX5	Single nucleotide variant (splice donor variant)	Holt-Oram syndrome	GPathogenic
Select item 1030662	NM_181486.4(TBX5):c.337A>T (p.Arg113Ter)	TBX5 (R113* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 970384	NM_181486.4(TBX5):c.564G>A (p.Ala188=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 956448	NM_181486.4(TBX5):c.756-2A>G	TBX5	Single nucleotide variant (splice acceptor variant)	Aortic valve disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 928756	NM_181486.4(TBX5):c.192G>A (p.Trp64Ter)	TBX5 (W14* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 883680	NM_000192.3(TBX5):c.-377C>T	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 883679	NM_000192.3(TBX5):c.-167G>A	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 883678	NM_000192.3(TBX5):c.-153T>G	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883677	NM_000192.3(TBX5):c.-132G>A	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883676	NM_000192.3(TBX5):c.-107T>C	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883630	NM_181486.4(TBX5):c.922C>T (p.Pro308Ser)	TBX5 (P308S +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely benign
Select item 883629	NM_181486.4(TBX5):c.1116G>A (p.Ser372=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome +2 more	GConflicting classifications of pathogenicity
Select item 883628	NM_181486.4(TBX5):c.1135A>T (p.Met379Leu)	TBX5 (M329L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 883589	NM_181486.4(TBX5):c.*717C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883588	NM_181486.4(TBX5):c.*836A>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GLikely benign
Select item 882884	NM_000192.3(TBX5):c.-42G>A	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 882883	NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)	TBX5 (E6K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 882842	NM_181486.4(TBX5):c.1233C>G (p.Thr411=)	TBX5	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 882841	NM_181486.4(TBX5):c.1362G>A (p.Met454Ile)	TBX5 (M404I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 882840	NM_181486.4(TBX5):c.1449G>A (p.Gln483=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
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 881692	NM_181486.4(TBX5):c.*121A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 881640	NM_181486.4(TBX5):c.*1344G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 881339	NM_000192.3(TBX5):c.-503C>T	TBX5, TBX5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 881338	NM_000192.3(TBX5):c.-487G>A	TBX5, TBX5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 881337	NM_000192.3(TBX5):c.-403G>C	TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 881277	NM_181486.4(TBX5):c.372G>C (p.Thr124=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome	GUncertain significance
Select item 881276	NM_181486.4(TBX5):c.456C>T (p.Leu152=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 881275	NM_181486.4(TBX5):c.585C>T (p.Gly195=)	TBX5	Single nucleotide variant (synonymous variant)	Holt-Oram syndrome	GUncertain significance
Select item 881274	NM_181486.4(TBX5):c.664-11C>T	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome	GUncertain significance
Select item 881273	NM_181486.4(TBX5):c.769G>A (p.Val257Met)	TBX5 (V257M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 881225	NM_181486.4(TBX5):c.*439T>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 881175	NM_181486.4(TBX5):c.*1548C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 870089	NM_181486.4(TBX5):c.105dup (p.Ser36fs)	TBX5 (S36fs)	Duplication (frameshift variant +1 more)	Left ventricular noncompaction cardiomyopathy +1 more	GPathogenic
Select item 830375	NM_181486.4(TBX5):c.905del (p.Gln302fs)	TBX5 (Q252fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 802896	NM_181486.4(TBX5):c.538del (p.Gln180fs)	TBX5 (Q130fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
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 701877	NM_181486.4(TBX5):c.363-6A>G	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2 +2 more	GBenign/Likely benign
Select item 696773	NM_181486.4(TBX5):c.1476C>T (p.Gly492=)	TBX5	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 650528	NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)	TBX5 (S251C +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 633773	NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del	TBX5	Deletion	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 633771	NM_181486.4(TBX5):c.943C>T (p.Gln315Ter)	TBX5 (Q315* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
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 633769	NM_181486.4(TBX5):c.1074del (p.Pro359fs)	TBX5 (P359fs +1 more)	Deletion (frameshift variant)	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 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 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 633765	NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter)	TBX5 (Y311* +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 633763	NM_181486.4(TBX5):c.336del (p.His112fs)	TBX5 (H112fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633762	NM_181486.4(TBX5):c.148-2A>G	TBX5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 633761	NM_181486.4(TBX5):c.510+5G>C	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 633760	NM_000192.3:c.946C>T	TBX5	Single nucleotide variant	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 633758	NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del	TBX5	Deletion	Holt-Oram syndrome	GPathogenic
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 633756	NM_181486.4(TBX5):c.559_572dup (p.Asn191fs)	TBX5 (N191fs +1 more)	Duplication (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 633754	NM_181486.4(TBX5):c.703G>T (p.Gly235Ter)	TBX5 (G235* +1 more)	Single nucleotide variant (nonsense)	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 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 633751	NM_181486.4(TBX5):c.664-2A>G	TBX5	Single nucleotide variant (splice acceptor variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 633750	NM_181486.4(TBX5):c.426del (p.Ala143fs)	TBX5 (A143fs +1 more)	Deletion (frameshift variant)	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 633747	NM_181486.4(TBX5):c.496del (p.Asp166fs)	TBX5 (D116fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633746	NM_000192.3:c.1033_1034dupGA	TBX5	Duplication	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 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 633742	NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del	TBX5	Deletion	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 633740	NM_000192.3:c.(?_-667)_(755+1_756-1)dup	TBX5	Duplication	Holt-Oram syndrome	GPathogenic
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 633738	NM_181486.4(TBX5):c.728_729del (p.Glu243fs)	TBX5 (E193fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 633737	NM_181486.4(TBX5):c.1346del (p.Gln449fs)	TBX5 (Q399fs +1 more)	Deletion (frameshift variant)	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

<< First< Prev

Page of 3