"GeneDx"[submitter] AND "DRC1"[gene] - ClinVar

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Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 60106	GRCh38/hg38 2p23.3(chr2:26332971-26439657)x1	ADGRF3, DRC1 +4 more	Copy number loss	See cases	GPathogenic
Select item 1243468	NC_000002.12:g.26401879C>A	DRC1	Single nucleotide variant	not provided	GBenign
Select item 1203685	NM_145038.5(DRC1):c.-40T>C	DRC1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1275914	NM_145038.5(DRC1):c.-15C>T	DRC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 571634	NM_145038.5(DRC1):c.26C>T (p.Ala9Val)	DRC1 (A9V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1283852	NM_145038.5(DRC1):c.155+30C>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286097	NM_145038.5(DRC1):c.156-234G>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272329	NM_145038.5(DRC1):c.156-228ATT[11]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1239328	NM_145038.5(DRC1):c.156-228ATT[13]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1231646	NM_145038.5(DRC1):c.156-228ATT[12]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1293832	NM_145038.5(DRC1):c.156-228ATT[9]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1245084	NM_145038.5(DRC1):c.156-228ATT[8]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1276152	NM_145038.5(DRC1):c.156-144C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279891	NM_145038.5(DRC1):c.156-40T>C	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 414288	NM_145038.5(DRC1):c.172T>C (p.Tyr58His)	DRC1 (Y58H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1806620	NM_145038.5(DRC1):c.238C>T (p.Arg80Ter)	DRC1 (R80*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1178647	NM_145038.5(DRC1):c.244-342T>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274963	NM_145038.5(DRC1):c.244-289_244-288del	DRC1	Deletion (intron variant)	not provided	GBenign
Select item 55840	NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)	DRC1 (Q118*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 21 +2 more	GPathogenic/Likely pathogenic
Select item 1699884	NM_145038.5(DRC1):c.356+5G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1247318	NM_145038.5(DRC1):c.356+177dup	DRC1	Duplication (intron variant)	not provided	GBenign
Select item 1194175	NM_145038.5(DRC1):c.356+177del	DRC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1204735	NM_145038.5(DRC1):c.356+229C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274073	NM_145038.5(DRC1):c.357-260C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271432	NM_145038.5(DRC1):c.357-150C>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191704	NM_145038.5(DRC1):c.357-125G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282092	NM_145038.5(DRC1):c.357-68C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262566	NM_145038.5(DRC1):c.495T>G (p.Ala165=)	DRC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1234210	NM_145038.5(DRC1):c.540+12G>A	DRC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1190722	NM_145038.5(DRC1):c.540+93G>C	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250327	NM_145038.5(DRC1):c.540+207T>C	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182429	NM_145038.5(DRC1):c.541-311G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267565	NM_145038.5(DRC1):c.678+38A>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264455	NM_145038.5(DRC1):c.679-277G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235705	NM_145038.5(DRC1):c.679-197G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250760	NM_145038.5(DRC1):c.765+105_765+106dup	DRC1	Duplication (intron variant)	not provided	GBenign
Select item 1221952	NM_145038.5(DRC1):c.765+106dup	DRC1	Duplication (intron variant)	not provided	GBenign
Select item 1203988	NM_145038.5(DRC1):c.765+106del	DRC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1182913	NM_145038.5(DRC1):c.765+243C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267694	NM_145038.5(DRC1):c.765+273G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240609	NM_145038.5(DRC1):c.766-263dup	DRC1	Duplication (intron variant)	not provided	GBenign
Select item 1209513	NM_145038.5(DRC1):c.888+281C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214298	NM_145038.5(DRC1):c.889-77G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281335	NM_145038.5(DRC1):c.889-58TG[15]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1270292	NM_145038.5(DRC1):c.889-58TG[14]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 1186568	NM_145038.5(DRC1):c.889-58TG[17]	DRC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1179963	NM_145038.5(DRC1):c.889-58TG[12]	DRC1	Microsatellite (intron variant)	not provided	GBenign
Select item 2430924	NM_145038.5(DRC1):c.889-32TA[9]	DRC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1225110	NM_145038.5(DRC1):c.889-33G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288253	NM_145038.5(DRC1):c.889-31A>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215825	NM_145038.5(DRC1):c.889-29A>G	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 414289	NM_145038.5(DRC1):c.992C>T (p.Thr331Ile)	DRC1 (T331I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +2 more	GBenign/Likely benign
Select item 1227089	NM_145038.5(DRC1):c.1028+205G>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204000	NM_145038.5(DRC1):c.1029-247C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 414283	NM_145038.5(DRC1):c.1067C>T (p.Ala356Val)	DRC1 (A356V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +2 more	GBenign
Select item 402796	NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu)	DRC1 (K357E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +3 more	GBenign
Select item 1186491	NM_145038.5(DRC1):c.1163+49C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197848	NM_145038.5(DRC1):c.1164-128G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177931	NM_145038.5(DRC1):c.1164-72C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262564	NM_145038.5(DRC1):c.1195T>C (p.Trp399Arg)	DRC1 (W399R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 3342719	NM_145038.5(DRC1):c.1205G>A (p.Trp402Ter)	DRC1 (W402*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2571772	NM_145038.5(DRC1):c.1277A>G (p.His426Arg)	DRC1 (H426R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582075	NM_145038.5(DRC1):c.1349C>T (p.Pro450Leu)	DRC1 (P450L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 414287	NM_145038.5(DRC1):c.1359C>T (p.Ser453=)	DRC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 407102	NM_145038.5(DRC1):c.1418C>T (p.Ala473Val)	DRC1 (A473V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 21 +3 more	GUncertain significance
Select item 241934	NM_145038.5(DRC1):c.1492C>G (p.Leu498Val)	DRC1 (L498V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 1293894	NM_145038.5(DRC1):c.1510-170G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192015	NM_145038.5(DRC1):c.1510-113G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179538	NM_145038.5(DRC1):c.1510-75G>C	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271667	NM_145038.5(DRC1):c.1510-25G>C	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 454981	NM_145038.5(DRC1):c.1581G>T (p.Arg527Ser)	DRC1 (R527S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 407104	NM_145038.5(DRC1):c.1622A>G (p.Asp541Gly)	DRC1 (D541G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1279693	NM_145038.5(DRC1):c.1689+189C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259231	NM_145038.5(DRC1):c.1690-249G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243348	NM_145038.5(DRC1):c.1690-234A>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 414293	NM_145038.5(DRC1):c.1710G>A (p.Ala570=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 402798	NM_145038.5(DRC1):c.1897G>T (p.Val633Phe)	DRC1 (V633F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1237854	NM_145038.5(DRC1):c.1919+209C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258840	NM_145038.5(DRC1):c.1919+315A>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233579	NM_145038.5(DRC1):c.1919+337C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280469	NM_145038.5(DRC1):c.1920-220T>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289153	NM_145038.5(DRC1):c.1920-212G>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190744	NM_145038.5(DRC1):c.1920-189C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233365	NM_145038.5(DRC1):c.1920-188G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269643	NM_145038.5(DRC1):c.1920-180C>T	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 241938	NM_145038.5(DRC1):c.2001A>G (p.Thr667=)	DRC1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 1278424	NM_145038.5(DRC1):c.2063+71G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289499	NM_145038.5(DRC1):c.2063+152A>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164847	NM_145038.5(DRC1):c.2105G>T (p.Ser702Ile)	DRC1 (S702I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 414292	NM_145038.5(DRC1):c.2147A>C (p.Gln716Pro)	DRC1 (Q716P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1252750	NM_145038.5(DRC1):c.2166+33G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251332	NM_145038.5(DRC1):c.2166+68G>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246485	NM_145038.5(DRC1):c.2166+92C>A	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239994	NM_145038.5(DRC1):c.2166+196A>G	DRC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 525352	NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs)	DRC1 (T732fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 21 +2 more	GUncertain significance
Select item 402799	NM_145038.5(DRC1):c.2200G>A (p.Val734Met)	DRC1 (V734M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2579982	NM_145038.5(DRC1):c.*8C>T	DRC1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 262563	NM_145038.5(DRC1):c.*9G>A	DRC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1231897	NM_145038.5(DRC1):c.*45G>A	DRC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 100