"GeneDx"[submitter] AND "TECRL"[gene] - ClinVar

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Items: 90

	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 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 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 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 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 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)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 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 1878729	NM_001010874.5(TECRL):c.831A>C (p.Thr277=)	TECRL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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 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 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 1305763	NM_001010874.5(TECRL):c.730+1G>A	TECRL	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 3377864	NM_001010874.5(TECRL):c.730T>C (p.Ser244Pro)	TECRL (S244P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1195401	NM_001010874.5(TECRL):c.658-221C>T	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203159	NM_001010874.5(TECRL):c.657+227A>G	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219423	NM_001010874.5(TECRL):c.657+102C>T	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198496	NM_001010874.5(TECRL):c.657+99del	TECRL	Deletion (intron variant)	not provided	GLikely benign
Select item 1208107	NM_001010874.5(TECRL):c.657+85C>T	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 710201	NM_001010874.5(TECRL):c.552-13dup	TECRL	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1196354	NM_001010874.5(TECRL):c.552-147T>A	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268318	NM_001010874.5(TECRL):c.551+258A>T	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178381	NM_001010874.5(TECRL):c.551+208T>C	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250324	NM_001010874.5(TECRL):c.551+136A>G	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277966	NM_001010874.5(TECRL):c.551+10AC[20]	TECRL	Microsatellite (intron variant)	not provided	GBenign
Select item 1273181	NM_001010874.5(TECRL):c.551+10AC[21]	TECRL	Microsatellite (intron variant)	not provided	GBenign
Select item 1270917	NM_001010874.5(TECRL):c.551+10AC[19]	TECRL	Microsatellite (intron variant)	not provided	GBenign
Select item 1245956	NM_001010874.5(TECRL):c.551+10AC[22]	TECRL	Microsatellite (intron variant)	not provided	GBenign
Select item 1230799	NM_001010874.5(TECRL):c.551+10AC[17]	TECRL	Microsatellite (intron variant)	not provided	GBenign
Select item 1221905	NM_001010874.5(TECRL):c.551+10AC[18]	TECRL	Microsatellite (intron variant)	not provided	GBenign
Select item 1287741	NM_001010874.5(TECRL):c.551+56del	TECRL	Deletion (intron variant)	not provided	GBenign
Select item 1265042	NM_001010874.5(TECRL):c.551+48_551+54del	TECRL	Deletion (intron variant)	not provided	GBenign
Select item 1190406	NM_001010874.5(TECRL):c.551+44_551+54del	TECRL	Deletion (intron variant)	not provided	GLikely benign
Select item 1181362	NM_001010874.5(TECRL):c.551+52_551+54del	TECRL	Deletion (intron variant)	not provided	GLikely benign
Select item 1174232	NM_001010874.5(TECRL):c.551+50_551+54del	TECRL	Deletion (intron variant)	not provided	GBenign
Select item 1217074	NM_001010874.5(TECRL):c.536G>A (p.Arg179His)	TECRL (R179H)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1202691	NM_001010874.5(TECRL):c.528A>G (p.Arg176=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1178321	NM_001010874.5(TECRL):c.454A>G (p.Thr152Ala)	TECRL (T152A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1239371	NM_001010874.5(TECRL):c.436-280G>A	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214515	NM_001010874.5(TECRL):c.435+313C>A	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235848	NM_001010874.5(TECRL):c.435+214dup	TECRL	Duplication (intron variant)	not provided	GBenign
Select item 1191285	NM_001010874.5(TECRL):c.435+227_435+235del	TECRL	Deletion (intron variant)	not provided	GLikely benign
Select item 1734834	NM_001010874.5(TECRL):c.377C>G (p.Ala126Gly)	TECRL (A126G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1196561	NM_001010874.5(TECRL):c.332-217G>C	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207077	NM_001010874.5(TECRL):c.332-250G>C	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178949	NM_001010874.5(TECRL):c.332-272A>G	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187189	NM_001010874.5(TECRL):c.331+268C>T	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579804	NM_001010874.5(TECRL):c.313G>C (p.Gly105Arg)	TECRL (G105R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291247	NM_001010874.5(TECRL):c.286+140A>T	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239445	NM_001010874.5(TECRL):c.286+85T>A	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281509	NM_001010874.5(TECRL):c.286+83T>A	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183163	NM_001010874.5(TECRL):c.286+68T>C	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216645	NM_001010874.5(TECRL):c.268C>A (p.Gln90Lys)	TECRL (Q90K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269413	NM_001010874.5(TECRL):c.235-26T>A	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206924	NM_001010874.5(TECRL):c.235-58T>C	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252552	NM_001010874.5(TECRL):c.235-159A>C	TECRL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199124	NM_001010874.5(TECRL):c.235-188T>A	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204996	NM_001010874.5(TECRL):c.235-207G>A	TECRL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1787068	NM_001010874.5(TECRL):c.216G>T (p.Gln72His)	TECRL (Q72H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1780912	NM_001010874.5(TECRL):c.182A>T (p.Glu61Val)	TECRL (E61V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1281795	NM_001010874.5(TECRL):c.133C>T (p.Pro45Ser)	TECRL (P45S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1194942	NM_001010874.5(TECRL):c.36C>T (p.Arg12=)	TECRL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1187774	NM_001010874.5(TECRL):c.33A>T (p.Glu11Asp)	TECRL (E11D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1343893	NM_001010874.5(TECRL):c.-1A>T	TECRL	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1218006	NC_000004.12:g.64409786C>A	TECRL	Single nucleotide variant	not provided	GLikely benign
Select item 253845	GRCh37/hg19 4q13.1(chr4:62910103-66106762)x3	TECRL, ADGRL3	Copy number gain	See cases	GUncertain significance

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Items: 90