ClinVar for MedGen (Select 895360) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 248

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2952074	NM_003673.4(TCAP):c.265C>A (p.Leu89Met)	TCAP (L89M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2948047	NM_003673.4(TCAP):c.50_51dup (p.Arg18fs)	TCAP (R18fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 25 +1 more	GPathogenic
Select item 2946520	NM_003673.4(TCAP):c.211A>G (p.Met71Val)	TCAP (M71V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2942299	NM_003673.4(TCAP):c.165G>C (p.Gly55=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2941072	NM_003673.4(TCAP):c.34G>C (p.Glu12Gln)	TCAP (E12Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2940721	NM_003673.4(TCAP):c.93C>A (p.Ser31=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2937928	NM_003673.4(TCAP):c.291C>G (p.Ala97=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2937740	NM_003673.4(TCAP):c.212T>C (p.Met71Thr)	TCAP (M71T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2937322	NM_003673.4(TCAP):c.78G>A (p.Lys26=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2933300	NM_003673.4(TCAP):c.122A>G (p.His41Arg)	TCAP (H41R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2932566	NM_003673.4(TCAP):c.14A>G (p.Glu5Gly)	TCAP (E5G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2931247	NM_003673.4(TCAP):c.222C>T (p.Leu74=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2930460	NM_003673.4(TCAP):c.111-15C>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2930435	NM_003673.4(TCAP):c.332dup (p.Gln112fs)	TCAP (Q112fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2930380	NM_003673.4(TCAP):c.380G>A (p.Cys127Tyr)	TCAP (C127Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2929857	NM_003673.4(TCAP):c.435T>G (p.Pro145=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2929621	NM_003673.4(TCAP):c.402del (p.Glu135fs)	TCAP (E135fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2928100	NM_003673.4(TCAP):c.110+5G>C	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2927814	NM_003673.4(TCAP):c.62_64del (p.Phe21del)	TCAP (F21del)	Deletion (inframe_deletion)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2927567	NM_003673.4(TCAP):c.110+8T>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2925613	NM_003673.4(TCAP):c.397G>A (p.Val133Met)	TCAP (V133M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2924468	NM_003673.4(TCAP):c.199C>T (p.Leu67=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2923530	NM_003673.4(TCAP):c.198G>C (p.Trp66Cys)	TCAP (W66C)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2584601	NM_003673.4(TCAP):c.394G>C (p.Glu132Gln)	TCAP (E132Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2202667	NM_003673.4(TCAP):c.50G>A (p.Arg17His)	TCAP (R17H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2199081	NM_003673.4(TCAP):c.105G>A (p.Glu35=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2196297	NM_003673.4(TCAP):c.134C>T (p.Thr45Ile)	TCAP (T45I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2187022	NM_003673.4(TCAP):c.111-15C>T	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2178390	NM_003673.4(TCAP):c.178C>G (p.Leu60Val)	TCAP (L60V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2177587	NM_003673.4(TCAP):c.464C>G (p.Ser155Cys)	TCAP (S155C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2157665	NM_003673.4(TCAP):c.325A>G (p.Thr109Ala)	TCAP (T109A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2156216	NM_003673.4(TCAP):c.111-14T>A	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 2146004	NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)	TCAP	Duplication (inframe_insertion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2135332	NM_003673.4(TCAP):c.448G>C (p.Gly150Arg)	TCAP (G150R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2113282	NM_003673.4(TCAP):c.428T>G (p.Val143Gly)	TCAP (V143G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2098148	NM_003673.4(TCAP):c.218T>C (p.Ile73Thr)	TCAP (I73T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2090126	NM_003673.4(TCAP):c.151_154del (p.Tyr51fs)	TCAP (Y51fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 2065429	NM_003673.4(TCAP):c.45_46del (p.Cys15_Glu16delinsTer)	TCAP	Microsatellite (nonsense)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 2040154	NM_003673.4(TCAP):c.408_410delinsA (p.Thr137fs)	TCAP (T137fs)	Indel (frameshift variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2036224	NM_003673.4(TCAP):c.111C>G (p.Gly37=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2033561	NM_003673.4(TCAP):c.425del (p.Pro142fs)	TCAP (P142fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2023376	NM_003673.4(TCAP):c.110+2T>C	TCAP	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 25 +1 more	GPathogenic
Select item 2011788	NM_003673.4(TCAP):c.130G>A (p.Asp44Asn)	TCAP (D44N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2011759	NM_003673.4(TCAP):c.110+6T>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1997878	NM_003673.4(TCAP):c.110+15G>T	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1959038	NM_003673.4(TCAP):c.110+13C>A	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1932063	NM_003673.4(TCAP):c.277A>G (p.Ile93Val)	TCAP (I93V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1788573	NM_003673.4(TCAP):c.225C>A (p.Gly75=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1762818	NM_003673.4(TCAP):c.82C>T (p.Leu28=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +2 more	GLikely benign
Select item 1742520	NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)	TCAP (S157T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +2 more	GUncertain significance
Select item 1731043	NM_003673.4(TCAP):c.33G>C (p.Ser11=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1722201	NM_003673.4(TCAP):c.479T>C (p.Met160Thr)	TCAP (M160T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1719294	NM_003673.4(TCAP):c.500G>C (p.Gly167Ala)	TCAP (G167A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1708038	NM_003673.4(TCAP):c.360_361del (p.Glu120fs)	TCAP (E120fs)	Microsatellite (frameshift variant)	Hypertrophic cardiomyopathy 25	GLikely pathogenic
Select item 1661075	NM_003673.4(TCAP):c.111-16C>T	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1628087	NM_003673.4(TCAP):c.426T>G (p.Pro142=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1621572	NM_003673.4(TCAP):c.381T>C (p.Cys127=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1616012	NM_003673.4(TCAP):c.420G>T (p.Leu140=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1597314	NM_003673.4(TCAP):c.87A>C (p.Thr29=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1585506	NM_003673.4(TCAP):c.117C>T (p.Ser39=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1562791	NM_003673.4(TCAP):c.36G>A (p.Glu12=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1555611	NM_003673.4(TCAP):c.354G>T (p.Ala118=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1550688	NM_003673.4(TCAP):c.110+18A>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1538813	NM_003673.4(TCAP):c.390C>G (p.Arg130=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1538652	NM_003673.4(TCAP):c.276C>T (p.Pro92=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1522360	NM_003673.4(TCAP):c.110+16C>G	TCAP	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1521328	NM_003673.4(TCAP):c.425_426del (p.Pro142fs)	TCAP (P142fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1507347	NM_003673.4(TCAP):c.406A>C (p.Ile136Leu)	TCAP (I136L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1505248	NM_003673.4(TCAP):c.479_494del (p.Met160fs)	TCAP (M160fs)	Deletion (frameshift variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1501267	NM_003673.4(TCAP):c.415C>T (p.Gln139Ter)	TCAP (Q139*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1500330	NM_003673.4(TCAP):c.37G>A (p.Glu13Lys)	TCAP (E13K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1499541	NM_003673.4(TCAP):c.407T>A (p.Ile136Asn)	TCAP (I136N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1480254	NM_003673.4(TCAP):c.275C>A (p.Pro92His)	TCAP (P92H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1472034	NM_003673.4(TCAP):c.269C>A (p.Pro90Gln)	TCAP (P90Q)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1459213	NM_003673.4(TCAP):c.34del (p.Glu12fs)	TCAP (E12fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 25 +1 more	GPathogenic
Select item 1441277	NM_003673.4(TCAP):c.387C>G (p.Asp129Glu)	TCAP (D129E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1441021	NM_003673.4(TCAP):c.422C>T (p.Pro141Leu)	TCAP (P141L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1436557	NM_003673.4(TCAP):c.22T>C (p.Cys8Arg)	TCAP (C8R)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1434453	NM_003673.4(TCAP):c.330del (p.Ile111fs)	TCAP (I111fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1433608	NM_003673.4(TCAP):c.496A>G (p.Arg166Gly)	TCAP (R166G)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1417468	NM_003673.4(TCAP):c.310GAG[1] (p.Glu105del)	TCAP (E105del)	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 1406249	NM_003673.4(TCAP):c.239A>G (p.Glu80Gly)	TCAP (E80G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1399236	NM_003673.4(TCAP):c.446C>G (p.Pro149Arg)	TCAP (P149R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1382475	NM_003673.4(TCAP):c.166C>T (p.Gln56Ter)	TCAP (Q56*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +1 more	GPathogenic
Select item 1379464	NM_003673.4(TCAP):c.202ATG[1] (p.Met69del)	TCAP (M69del)	Microsatellite (inframe_deletion)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1376676	NM_003673.4(TCAP):c.424C>A (p.Pro142Thr)	TCAP (P142T)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1370797	NM_003673.4(TCAP):c.98G>T (p.Arg33Leu)	TCAP (R33L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1353178	NM_003673.4(TCAP):c.46G>A (p.Glu16Lys)	TCAP (E16K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1350760	NM_003673.4(TCAP):c.450dup (p.Ala151fs)	TCAP (A151fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 1212341	NM_003673.4(TCAP):c.202A>G (p.Met68Val)	TCAP (M68V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1178007	NM_003673.4(TCAP):c.186G>A (p.Gln62=)	TCAP	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1174904	NM_003673.4(TCAP):c.111-16C>G	TCAP	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 25 +2 more	GBenign
Select item 1155584	NM_003673.4(TCAP):c.402T>G (p.Ala134=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1142258	NM_003673.4(TCAP):c.87A>G (p.Thr29=)	TCAP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1136230	NM_003673.4(TCAP):c.33G>T (p.Ser11=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1129559	NM_003673.4(TCAP):c.102C>G (p.Pro34=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +1 more	GLikely benign
Select item 1129516	NM_003673.4(TCAP):c.178C>T (p.Leu60=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1120294	NM_003673.4(TCAP):c.354G>A (p.Ala118=)	TCAP	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 25 +2 more	GLikely benign
Select item 1107933	NM_003673.4(TCAP):c.240G>A (p.Glu80=)	TCAP	Single nucleotide variant (synonymous variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign

<< First< Prev

Page of 3