ClinVar for MedGen (Select 413312) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065902	NM_014000.3(VCL):c.2359T>A (p.Ser787Thr)	VCL (S787T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15	GUncertain significance
Select item 3065159	NM_014000.3(VCL):c.2512C>T (p.Gln838Ter)	VCL (Q838*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 15	GUncertain significance
Select item 2584583	NM_014000.3(VCL):c.1379G>C (p.Arg460Pro)	VCL (R460P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 2502155	NM_014000.3(VCL):c.1360G>A (p.Gly454Arg)	VCL (G454R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 2500109	NM_014000.3(VCL):c.2607G>C (p.Glu869Asp)	VCL (E869D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 1803826	NM_014000.3(VCL):c.1343T>C (p.Leu448Pro)	VCL (L448P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +2 more	GUncertain significance
Select item 1550187	NM_014000.3(VCL):c.2001G>A (p.Thr667=)	VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +1 more	GLikely benign
Select item 1483772	NM_014000.3(VCL):c.1132A>G (p.Thr378Ala)	VCL (T378A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 1437756	NM_014000.3(VCL):c.2305A>G (p.Arg769Gly)	VCL (R769G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 1382728	NM_014000.3(VCL):c.1225C>G (p.Arg409Gly)	VCL (R409G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 1372600	NM_014000.3(VCL):c.806C>G (p.Ala269Gly)	VCL (A269G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 1312612	NM_014000.3(VCL):c.482C>G (p.Thr161Arg)	VCL (T161R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +2 more	GUncertain significance
Select item 1309830	NM_014000.3(VCL):c.686dup (p.Asn229fs)	VCL (N229fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 1308741	NM_014000.3(VCL):c.1465G>A (p.Ala489Thr)	VCL (A489T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 1306605	NM_014000.3(VCL):c.844G>T (p.Gly282Cys)	VCL (G282C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +3 more	GUncertain significance
Select item 1264039	NM_014000.3(VCL):c.3153+47T>C	VCL	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 15 +1 more	GBenign
Select item 1174806	NM_014000.3(VCL):c.1558C>T (p.Arg520Trp)	VCL (R520W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1022022	NM_014000.3(VCL):c.2023-1G>C	VCL	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 1016625	NM_014000.3(VCL):c.1503G>C (p.Gln501His)	VCL (Q501H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 1006190	NM_014000.3(VCL):c.625A>G (p.Met209Val)	VCL (M209V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 968156	NM_014000.3(VCL):c.2579del (p.Pro860fs)	VCL (P860fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 960355	NM_014000.3(VCL):c.1606C>A (p.Pro536Thr)	VCL (P536T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 944159	NM_014000.3(VCL):c.1246C>T (p.Arg416Trp)	VCL (R416W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 943470	NM_014000.3(VCL):c.1354G>A (p.Gly452Arg)	VCL (G452R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 943118	NM_014000.3(VCL):c.1640G>A (p.Arg547Gln)	VCL (R547Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 933983	NM_014000.3(VCL):c.739G>A (p.Val247Met)	VCL (V247M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +2 more	GUncertain significance
Select item 915772	NM_014000.3(VCL):c.2407G>A (p.Ala803Thr)	VCL (A803T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 879717	NM_014000.3(VCL):c.*646C>G	VCL	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 15 +2 more	GConflicting classifications of pathogenicity
Select item 878808	NM_014000.3(VCL):c.*1794G>A	VCL	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 856379	NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del)	VCL	Deletion (inframe_deletion +1 more)	not provided +4 more	GUncertain significance
Select item 853198	NM_014000.3(VCL):c.1457C>T (p.Pro486Leu)	VCL (P486L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 847211	NM_014000.3(VCL):c.1435C>T (p.Arg479Trp)	VCL (R479W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 844982	NM_014000.3(VCL):c.2747C>T (p.Pro916Leu)	VCL (P916L)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 843336	NM_014000.3(VCL):c.2558G>A (p.Arg853Gln)	VCL (R853Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 841230	NM_014000.3(VCL):c.527A>G (p.Asp176Gly)	VCL (D176G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 837767	NM_014000.3(VCL):c.2030C>T (p.Ser677Leu)	VCL (S677L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 834674	NM_014000.3(VCL):c.1879G>A (p.Asp627Asn)	VCL (D627N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 806513	NM_014000.3(VCL):c.2038C>T (p.Arg680Cys)	VCL (R680C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +3 more	GUncertain significance
Select item 806509	NM_014000.3(VCL):c.239+6T>G	VCL	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 665543	NM_014000.3(VCL):c.1620T>A (p.Asp540Glu)	VCL (D540E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 663296	NM_014000.3(VCL):c.1743+6A>G	VCL	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 657948	NM_014000.3(VCL):c.1039C>T (p.Pro347Ser)	VCL (P347S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 640967	NM_014000.3(VCL):c.20G>T (p.Arg7Leu)	LOC130004109, VCL (R7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 640172	NM_014000.3(VCL):c.2285G>A (p.Arg762Gln)	VCL (R762Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 618483	NM_014000.3(VCL):c.2905G>A (p.Ala969Thr)	VCL (A969T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 575448	NM_014000.3(VCL):c.1046C>T (p.Ala349Val)	VCL (A349V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 560071	Single allele	AP3M1, VCL	Duplication	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 536711	NM_014000.3(VCL):c.853C>T (p.Arg285Cys)	VCL (R285C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 536710	NM_014000.3(VCL):c.2443A>G (p.Lys815Glu)	VCL (K815E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 536706	NM_014000.3(VCL):c.768T>A (p.Asp256Glu)	VCL (D256E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 536704	NM_014000.3(VCL):c.2531C>T (p.Pro844Leu)	VCL (P844L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 518770	NM_014000.3(VCL):c.2399A>T (p.Asp800Val)	VCL (D800V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 506391	NM_014000.3(VCL):c.169-11del	VCL	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 505024	NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)	VCL (I497T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 498457	NM_014000.3(VCL):c.875-24T>A	VCL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 496423	NM_014000.3(VCL):c.238A>C (p.Lys80Gln)	VCL (K80Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +3 more	GUncertain significance
Select item 488174	NM_014000.3(VCL):c.625A>T (p.Met209Leu)	VCL (M209L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +3 more	GUncertain significance
Select item 487630	NM_014000.3(VCL):c.550C>T (p.His184Tyr)	VCL (H184Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 487627	NM_014000.3(VCL):c.1928C>T (p.Thr643Met)	VCL (T643M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 468824	NM_014000.3(VCL):c.787A>T (p.Thr263Ser)	VCL (T263S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 468822	NM_014000.3(VCL):c.458C>T (p.Thr153Ile)	VCL (T153I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 468812	NM_014000.3(VCL):c.1814C>G (p.Pro605Arg)	VCL (P605R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 468805	NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)	VCL (R433C)	Inversion (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 452296	NM_014000.3(VCL):c.1940C>T (p.Ala647Val)	VCL (A647V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +3 more	GUncertain significance
Select item 450850	NM_014000.3(VCL):c.565G>T (p.Val189Leu)	VCL (V189L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 424219	NM_014000.3(VCL):c.2528C>T (p.Pro843Leu)	VCL (P843L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 417950	NM_014000.3(VCL):c.158A>G (p.Asn53Ser)	VCL (N53S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 408955	NM_014000.3(VCL):c.2022+5G>T	VCL	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 408953	NM_014000.3(VCL):c.2866A>G (p.Met956Val)	VCL (M956V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 408949	NM_014000.3(VCL):c.1195A>C (p.Asn399His)	VCL (N399H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 408948	NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser)	VCL (P942S)	Indel (missense variant +1 more)	Hypertrophic cardiomyopathy 15 +2 more	GUncertain significance
Select item 408946	NM_014000.3(VCL):c.1865G>A (p.Arg622Lys)	VCL (R622K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 408945	NM_014000.3(VCL):c.2649A>C (p.Glu883Asp)	VCL (E883D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 408944	NM_014000.3(VCL):c.1031G>C (p.Gly344Ala)	VCL (G344A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 408942	NM_014000.3(VCL):c.1511T>C (p.Ile504Thr)	VCL (I504T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 392837	NM_014000.3(VCL):c.1744-1G>T	VCL	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GUncertain significance
Select item 378850	NM_014000.3(VCL):c.3381T>C (p.Val1127=)	VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 378848	NM_014000.3(VCL):c.239+11G>A	VCL	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1W +2 more	GLikely benign
Select item 300828	NM_014000.3(VCL):c.*1854A>C	VCL	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1W +1 more	GBenign/Likely benign
Select item 300827	NM_014000.3(VCL):c.*1853A>C	VCL	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1W +1 more	GBenign/Likely benign
Select item 300820	NM_014000.3(VCL):c.*1761A>G	VCL	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 300816	NM_014000.3(VCL):c.*1659C>T	VCL	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 300812	NM_014000.3(VCL):c.*1285C>T	VCL	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 300811	NM_014000.3(VCL):c.*1282C>T	VCL	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 300801	NM_014000.3(VCL):c.*212C>A	VCL	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 300797	NM_014000.3(VCL):c.2807C>T (p.Ala936Val)	VCL (A936V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1W +3 more	GUncertain significance
Select item 300793	NM_014000.3(VCL):c.2006G>A (p.Arg669Gln)	VCL (R669Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 300787	NM_014000.3(VCL):c.1287T>A (p.Asp429Glu)	VCL (D429E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 300786	NM_014000.3(VCL):c.1040C>T (p.Pro347Leu)	VCL (P347L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +3 more	GUncertain significance
Select item 300783	NM_014000.3(VCL):c.592G>A (p.Val198Met)	VCL (V198M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15 +1 more	GUncertain significance
Select item 263345	NM_014000.3(VCL):c.1621C>G (p.Leu541Val)	VCL (L541V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 222889	NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)	VCL (R823Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +6 more	GConflicting classifications of pathogenicity
Select item 217497	NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr)	VCL (D511Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 15	GLikely pathogenic
Select item 202163	NM_014000.3(VCL):c.2828_2829del (p.Pro943fs)	VCL	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 202162	NM_014000.3(VCL):c.1819A>C (p.Lys607Gln)	VCL (K607Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 202160	NM_014000.3(VCL):c.1583G>A (p.Arg528His)	VCL (R528H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 202158	NM_014000.3(VCL):c.1298G>A (p.Arg433His)	VCL (R433H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 192107	NM_014000.3(VCL):c.2893C>T (p.Pro965Ser)	VCL (P965S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 192103	NM_014000.3(VCL):c.1192C>T (p.Pro398Ser)	VCL (P398S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 191002	NM_014000.3(VCL):c.2924G>A (p.Arg975Gln)	VCL (R975Q)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 15 +2 more	GConflicting classifications of pathogenicity

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