TECRL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 149565	GRCh38/hg38 4q13.1(chr4:63177590-64345889)x1	LOC105377253, LOC129992647 +1 more	Copy number loss	See cases	GUncertain significance
Select item 152862	GRCh38/hg38 4q13.1-13.2(chr4:63868950-65648341)x1	EPHA5, LINC02232 +3 more	Copy number loss	See cases	GUncertain significance
Select item 147524	GRCh38/hg38 4q13.1(chr4:64132305-65099761)x1	LINC02232, LOC123477750 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1296724	NM_001010874.5(TECRL):c.*327C>A	TECRL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1247451	NM_001010874.5(TECRL):c.*317del	TECRL	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1180251	NM_001010874.5(TECRL):c.*292A>G	TECRL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2626084	NM_001010874.5(TECRL):c.1073T>A (p.Met358Lys)	TECRL (M358K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3175649	NM_001010874.5(TECRL):c.1069G>A (p.Ala357Thr)	TECRL (A357T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1772382	NM_001010874.5(TECRL):c.1035G>A (p.Leu345=)	TECRL	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1769860	NM_001010874.5(TECRL):c.1027A>T (p.Ile343Phe)	TECRL (I343F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232336	NM_001010874.5(TECRL):c.1019A>G (p.Lys340Arg)	TECRL (K340R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1735722	NM_001010874.5(TECRL):c.1013A>C (p.Gln338Pro)	TECRL (Q338P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1794643	NM_001010874.5(TECRL):c.1009del (p.Ala337fs)	TECRL (A337fs)	Deletion (frameshift variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1785785	NM_001010874.5(TECRL):c.1006T>A (p.Trp336Arg)	TECRL (W336R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1779342	NM_001010874.5(TECRL):c.1004T>C (p.Leu335Ser)	TECRL (L335S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232335	NM_001010874.5(TECRL):c.1000T>C (p.Ser334Pro)	TECRL (S334P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3232355	NM_001010874.5(TECRL):c.998T>C (p.Met333Thr)	TECRL (M333T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1768825	NM_001010874.5(TECRL):c.998T>A (p.Met333Lys)	TECRL (M333K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1768414	NM_001010874.5(TECRL):c.985A>T (p.Met329Leu)	TECRL (M329L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1225599	NM_001010874.5(TECRL):c.965-38A>C	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294827	NM_001010874.5(TECRL):c.965-50_965-49insTT	TECRL	Insertion (intron variant)	not provided	GBenign
Select item 1221036	NM_001010874.5(TECRL):c.964+59T>C	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240736	NM_001010874.5(TECRL):c.964+48A>G	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1767410	NM_001010874.5(TECRL):c.956C>T (p.Thr319Ile)	TECRL (T319I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766445	NM_001010874.5(TECRL):c.928T>A (p.Trp310Arg)	TECRL (W310R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766204	NM_001010874.5(TECRL):c.920T>C (p.Ile307Thr)	TECRL (I307T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1203692	NM_001010874.5(TECRL):c.919-30T>C	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187411	NM_001010874.5(TECRL):c.919-75A>G	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228807	NM_001010874.5(TECRL):c.919-174A>T	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 814027	NM_001010874.5(TECRL):c.918+3A>G	TECRL	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 3	GPathogenic
Select item 1766009	NM_001010874.5(TECRL):c.915T>G (p.Tyr305Ter)	TECRL (Y305*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1765898	NM_001010874.5(TECRL):c.912C>A (p.Thr304=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2449410	NM_001010874.5(TECRL):c.900T>C (p.Cys300=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2504203	NM_001010874.5(TECRL):c.898T>C (p.Cys300Arg)	TECRL (C300R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321522	NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)	TECRL (V298A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3232353	NM_001010874.5(TECRL):c.884T>A (p.Phe295Tyr)	TECRL (F295Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232352	NM_001010874.5(TECRL):c.881T>G (p.Met294Arg)	TECRL (M294R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1764522	NM_001010874.5(TECRL):c.874A>T (p.Thr292Ser)	TECRL (T292S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763934	NM_001010874.5(TECRL):c.858A>G (p.Pro286=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1763816	NM_001010874.5(TECRL):c.854G>A (p.Ser285Asn)	TECRL (S285N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2333253	NM_001010874.5(TECRL):c.853A>T (p.Ser285Cys)	TECRL (S285C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232351	NM_001010874.5(TECRL):c.845G>C (p.Cys282Ser)	TECRL (C282S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763436	NM_001010874.5(TECRL):c.844T>G (p.Cys282Gly)	TECRL (C282G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2561832	NM_001010874.5(TECRL):c.843C>T (p.Ala281=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2578184	NM_001010874.5(TECRL):c.842C>A (p.Ala281Asp)	TECRL (A281D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2279646	NM_001010874.5(TECRL):c.842C>T (p.Ala281Val)	TECRL (A281V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763067	NM_001010874.5(TECRL):c.835A>G (p.Asn279Asp)	TECRL (N279D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3232350	NM_001010874.5(TECRL):c.833-1G>C	TECRL	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1193335	NM_001010874.5(TECRL):c.833-22A>G	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246695	NM_001010874.5(TECRL):c.833-127A>G	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196449	NM_001010874.5(TECRL):c.833-162G>T	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190537	NM_001010874.5(TECRL):c.833-189T>A	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654779	NM_001010874.5(TECRL):c.832+1284G>C	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192925	NM_001010874.5(TECRL):c.832+247T>A	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190333	NM_001010874.5(TECRL):c.832+211C>T	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190118	NM_001010874.5(TECRL):c.832+143T>C	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219325	NM_001010874.5(TECRL):c.832+84A>T	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1762928	NM_001010874.5(TECRL):c.832+3del	TECRL	Deletion (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1762960	NM_001010874.5(TECRL):c.832G>A (p.Gly278Arg)	TECRL (G278R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1878729	NM_001010874.5(TECRL):c.831A>C (p.Thr277=)	TECRL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1762864	NM_001010874.5(TECRL):c.830C>A (p.Thr277Lys)	TECRL (T277K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1762756	NM_001010874.5(TECRL):c.828C>T (p.His276=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1708640	NM_001010874.5(TECRL):c.824A>G (p.Asn275Ser)	TECRL (N275S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1762399	NM_001010874.5(TECRL):c.819T>A (p.His273Gln)	TECRL (H273Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1762090	NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del)	TECRL (L271del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype	GLikely pathogenic
Select item 3232349	NM_001010874.5(TECRL):c.810G>A (p.Met270Ile)	TECRL (M270I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1761875	NM_001010874.5(TECRL):c.806T>C (p.Val269Ala)	TECRL (V269A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1761403	NM_001010874.5(TECRL):c.795T>C (p.His265=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2548665	NM_001010874.5(TECRL):c.788G>T (p.Gly263Val)	TECRL (G263V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760470	NM_001010874.5(TECRL):c.775-4G>T	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 1235092	NM_001010874.5(TECRL):c.774+294C>T	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204392	NM_001010874.5(TECRL):c.774+112A>T	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179620	NM_001010874.5(TECRL):c.774+32G>A	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250270	NM_001010874.5(TECRL):c.774+31C>T	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1760400	NM_001010874.5(TECRL):c.774+4T>C	TECRL	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2564184	NM_001010874.5(TECRL):c.774G>C (p.Leu258=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760312	NM_001010874.5(TECRL):c.771T>C (p.Phe257=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1210126	NM_001010874.5(TECRL):c.742_758del (p.Arg248fs)	TECRL (R248fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 3	GLikely pathogenic
Select item 1179423	NM_001010874.5(TECRL):c.739A>G (p.Asn247Asp)	TECRL (N247D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1758560	NM_001010874.5(TECRL):c.736G>T (p.Gly246Ter)	TECRL (G246*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 2449407	NM_001010874.5(TECRL):c.732A>G (p.Ser244=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1224159	NM_001010874.5(TECRL):c.731-114C>T	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214109	NM_001010874.5(TECRL):c.731-127A>G	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189722	NM_001010874.5(TECRL):c.731-169del	TECRL	Deletion (intron variant)	not provided	GLikely benign
Select item 1182667	NM_001010874.5(TECRL):c.731-174A>T	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 149611	GRCh38/hg38 4q13.1(chr4:64305114-64515521)x1	TECRL	Copy number loss	See cases	GUncertain significance
Select item 1305763	NM_001010874.5(TECRL):c.730+1G>A	TECRL	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 1329721	NM_001010874.5(TECRL):c.722C>T (p.Thr241Ile)	TECRL (T241I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1757723	NM_001010874.5(TECRL):c.720T>C (p.Tyr240=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1757130	NM_001010874.5(TECRL):c.709C>A (p.His237Asn)	TECRL (H237N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1757101	NM_001010874.5(TECRL):c.708T>G (p.Asn236Lys)	TECRL (N236K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756819	NM_001010874.5(TECRL):c.703A>G (p.Ile235Val)	TECRL (I235V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756684	NM_001010874.5(TECRL):c.700T>C (p.Tyr234His)	TECRL (Y234H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2245751	NM_001010874.5(TECRL):c.686C>T (p.Ser229Phe)	TECRL (S229F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755878	NM_001010874.5(TECRL):c.686C>G (p.Ser229Cys)	TECRL (S229C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755289	NM_001010874.5(TECRL):c.675G>A (p.Trp225Ter)	TECRL (W225*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1754727	NM_001010874.5(TECRL):c.665C>T (p.Ala222Val)	TECRL (A222V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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