"GeneDx"[submitter] AND "CCDC40"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 188

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1274729	NC_000017.11:g.80036451G>T	CCDC40	Single nucleotide variant	not provided	GBenign
Select item 260946	NM_017950.3(CCDC40):c.-49C>A	CCDC40	Single nucleotide variant	not specified +1 more	GBenign
Select item 260945	NM_017950.3(CCDC40):c.-36C>T	CCDC40	Single nucleotide variant	not specified +2 more	GBenign/Likely benign
Select item 1225552	NM_017950.4(CCDC40):c.29+58C>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290071	NM_017950.4(CCDC40):c.29+220C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262578	NM_017950.4(CCDC40):c.30-231A>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269480	NM_017950.4(CCDC40):c.30-191G>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281104	NM_017950.4(CCDC40):c.30-80G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213195	NM_017950.4(CCDC40):c.30-57G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117958	NM_017950.4(CCDC40):c.93+4A>G	CCDC40	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 260981	NM_017950.4(CCDC40):c.93+18C>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 1216248	NM_017950.4(CCDC40):c.93+195del	CCDC40	Deletion (intron variant)	not provided	GLikely benign
Select item 1293859	NM_017950.4(CCDC40):c.93+215C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204277	NM_017950.4(CCDC40):c.93+238G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246382	NM_017950.4(CCDC40):c.94-200A>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 166807	NM_017950.4(CCDC40):c.207G>C (p.Val69=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 31069	NM_017950.4(CCDC40):c.248del (p.Ala83fs)	CCDC40 (A83fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 1010331	NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu)	CCDC40 (P103L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 226494	NM_017950.4(CCDC40):c.504G>A (p.Pro168=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 162845	NM_017950.4(CCDC40):c.507G>A (p.Ser169=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1249218	NM_017950.4(CCDC40):c.552+174G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293860	NM_017950.4(CCDC40):c.552+278G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286155	NM_017950.4(CCDC40):c.553-137G>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233176	NM_017950.4(CCDC40):c.553-136G>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232595	NM_017950.4(CCDC40):c.553-135C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260976	NM_017950.4(CCDC40):c.553-41A>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +2 more	GBenign
Select item 260975	NM_017950.4(CCDC40):c.553-17G>C	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 197317	NM_017950.4(CCDC40):c.630C>T (p.Ser210=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 178707	NM_017950.4(CCDC40):c.676+13T>C	CCDC40	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1253357	NM_017950.4(CCDC40):c.676+59T>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243033	NM_017950.4(CCDC40):c.676+108T>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248335	NM_017950.4(CCDC40):c.676+202C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261740	NM_017950.4(CCDC40):c.676+218C>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291619	NM_017950.4(CCDC40):c.676+292A>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274776	NM_017950.4(CCDC40):c.676+307C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278390	NM_017950.4(CCDC40):c.676+328A>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272971	NM_017950.4(CCDC40):c.677-310T>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274530	NM_017950.4(CCDC40):c.677-308G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288460	NM_017950.4(CCDC40):c.677-188T>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262458	NM_017950.4(CCDC40):c.677-137G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162846	NM_017950.4(CCDC40):c.677-4C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 1002977	NM_017950.4(CCDC40):c.772A>G (p.Met258Val)	CCDC40 (M258V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 260979	NM_017950.4(CCDC40):c.850G>C (p.Asp284His)	CCDC40 (D284H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1250649	NM_017950.4(CCDC40):c.855+45G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250646	NM_017950.4(CCDC40):c.855+198C>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263583	NM_017950.4(CCDC40):c.855+218A>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221791	NM_017950.4(CCDC40):c.855+297A>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236857	NM_017950.4(CCDC40):c.856-91G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 178708	NM_017950.4(CCDC40):c.873C>T (p.Phe291=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 179591	NM_017950.4(CCDC40):c.940-7G>A	CCDC40	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 260982	NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)	CCDC40 (A316T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 696663	NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr)	CCDC40 (A353T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 241229	NM_017950.4(CCDC40):c.1076G>A (p.Arg359His)	CCDC40 (R359H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1302573	NM_017950.4(CCDC40):c.1085A>G (p.Lys362Arg)	CCDC40 (K362R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226486	NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 260948	NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr)	CCDC40 (A378T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 162847	NM_017950.4(CCDC40):c.1159+12C>T	CCDC40	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1238505	NM_017950.4(CCDC40):c.1159+239C>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183440	NM_017950.4(CCDC40):c.1160-57G>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 699086	NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val)	CCDC40 (L401V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1218896	NM_017950.4(CCDC40):c.1317+90C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229207	NM_017950.4(CCDC40):c.1318-76T>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162848	NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1248021	NM_017950.4(CCDC40):c.1440+136C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232385	NM_017950.4(CCDC40):c.1440+140C>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235997	NM_017950.4(CCDC40):c.1440+229C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287201	NM_017950.4(CCDC40):c.1441-314C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291752	NM_017950.4(CCDC40):c.1441-137C>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241272	NM_017950.4(CCDC40):c.1441-106A>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260952	NM_017950.4(CCDC40):c.1441-18C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +3 more	GBenign/Likely benign
Select item 226488	NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226489	NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)	CCDC40 (S489I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 1804213	NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)	CCDC40 (R494H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306618	NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met)	CCDC40 (K507M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 260954	NM_017950.4(CCDC40):c.1562+33G>A	CCDC40	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1231671	NM_017950.4(CCDC40):c.1562+64C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707376	NM_017950.4(CCDC40):c.1562+124G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246684	NM_017950.4(CCDC40):c.1562+214G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208529	NM_017950.4(CCDC40):c.1562+266G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272161	NM_017950.4(CCDC40):c.1562+308T>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288867	NM_017950.4(CCDC40):c.1563-262T>C	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180982	NM_017950.4(CCDC40):c.1563-237C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261374	NM_017950.4(CCDC40):c.1563-158AAAT[12]	CCDC40	Microsatellite (intron variant)	not provided	GBenign
Select item 1252197	NM_017950.4(CCDC40):c.1563-158AAAT[11]	CCDC40	Microsatellite (intron variant)	not provided	GBenign
Select item 1247082	NM_017950.4(CCDC40):c.1563-158AAAT[10]	CCDC40	Microsatellite (intron variant)	not provided	GBenign
Select item 1233123	NM_017950.4(CCDC40):c.1563-158AAAT[9]	CCDC40	Microsatellite (intron variant)	not provided	GBenign
Select item 1193667	NM_017950.4(CCDC40):c.1563-158AAAT[13]	CCDC40	Microsatellite (intron variant)	not provided	GLikely benign
Select item 215523	NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)	CCDC40 (T558R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 407765	NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg)	CCDC40 (C572R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2117959	NM_017950.4(CCDC40):c.1806+5G>A	CCDC40	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1691756	NM_017950.4(CCDC40):c.1814T>C (p.Met605Thr)	CCDC40 (M605T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 648750	NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met)	CCDC40 (T628M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1051973	NM_017950.4(CCDC40):c.1885G>C (p.Asp629His)	CCDC40 (D629H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 162849	NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)	CCDC40 (A630V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 162850	NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 1231963	NM_017950.4(CCDC40):c.1989+192C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251832	NM_017950.4(CCDC40):c.1990-110G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3139151	NM_017950.4(CCDC40):c.1997A>G (p.His666Arg)	CCDC40 (H666R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 3366250	NM_017950.4(CCDC40):c.2005A>G (p.Lys669Glu)	CCDC40 (K669E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2