"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCDC40"[g - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260946	NM_017950.3(CCDC40):c.-49C>A	CCDC40	Single nucleotide variant	not provided +1 more	GBenign
Select item 260945	NM_017950.3(CCDC40):c.-36C>T	CCDC40	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 260981	NM_017950.4(CCDC40):c.93+18C>A	CCDC40	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 260950	NM_017950.4(CCDC40):c.141C>T (p.Val47=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 226490	NM_017950.4(CCDC40):c.180G>A (p.Ala60=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 166807	NM_017950.4(CCDC40):c.207G>C (p.Val69=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 260973	NM_017950.4(CCDC40):c.384A>G (p.Ala128=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 260974	NM_017950.4(CCDC40):c.470C>T (p.Thr157Ile)	CCDC40 (T157I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1743905	NM_017950.4(CCDC40):c.489C>T (p.His163=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 226494	NM_017950.4(CCDC40):c.504G>A (p.Pro168=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 162845	NM_017950.4(CCDC40):c.507G>A (p.Ser169=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +3 more	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)	not provided +2 more	GBenign
Select item 197317	NM_017950.4(CCDC40):c.630C>T (p.Ser210=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 414639	NM_017950.4(CCDC40):c.636C>T (p.Ile212=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 700220	NM_017950.4(CCDC40):c.666G>A (p.Ser222=)	CCDC40	Single nucleotide variant (synonymous variant)	CCDC40-related condition +1 more	GLikely benign
Select item 178707	NM_017950.4(CCDC40):c.676+13T>C	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 260977	NM_017950.4(CCDC40):c.677-3del	CCDC40	Deletion (intron variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 162846	NM_017950.4(CCDC40):c.677-4C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 260978	NM_017950.4(CCDC40):c.699T>C (p.Asp233=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 260979	NM_017950.4(CCDC40):c.850G>C (p.Asp284His)	CCDC40 (D284H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3031156	NM_017950.4(CCDC40):c.856-35_856-24del	CCDC40	Deletion (intron variant)	CCDC40-related condition	GLikely benign
Select item 260980	NM_017950.4(CCDC40):c.856-18G>A	CCDC40	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178708	NM_017950.4(CCDC40):c.873C>T (p.Phe291=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 260982	NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)	CCDC40 (A316T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 260947	NM_017950.4(CCDC40):c.1038G>A (p.Glu346=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 241230	NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)	CCDC40 (K375Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 226486	NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 260948	NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr)	CCDC40 (A378T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 162847	NM_017950.4(CCDC40):c.1159+12C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 260949	NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr)	CCDC40 (I407T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 241233	NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)	CCDC40 (E435K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 574268	NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)	CCDC40 (K438*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 162848	NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 260951	NM_017950.4(CCDC40):c.1440+16G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 260952	NM_017950.4(CCDC40):c.1441-18C>G	CCDC40	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 226488	NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 226489	NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)	CCDC40 (S489I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 525439	NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser)	CCDC40 (R493S)	Single nucleotide variant (missense variant)	CCDC40-related condition +2 more	GConflicting classifications of pathogenicity
Select item 260953	NM_017950.4(CCDC40):c.1531G>C (p.Glu511Gln)	CCDC40 (E511Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 178709	NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys)	CCDC40 (E511K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +2 more	GBenign/Likely benign
Select item 260954	NM_017950.4(CCDC40):c.1562+33G>A	CCDC40	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3046926	NM_017950.4(CCDC40):c.1562+1948C>T	CCDC40 (R538C)	Single nucleotide variant (missense variant +1 more)	CCDC40-related condition	GLikely benign
Select item 3047418	NM_017950.4(CCDC40):c.1562+1971C>T	CCDC40	Single nucleotide variant (synonymous variant +1 more)	CCDC40-related condition	GLikely benign
Select item 215523	NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)	CCDC40 (T558R)	Single nucleotide variant (missense variant)	CCDC40-related condition +4 more	GConflicting classifications of pathogenicity
Select item 260955	NM_017950.4(CCDC40):c.1722C>A (p.Thr574=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 325734	NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg)	CCDC40 (Q580R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +2 more	GConflicting classifications of pathogenicity
Select item 414636	NM_017950.4(CCDC40):c.1806+8C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 215524	NM_017950.4(CCDC40):c.1889_1890delinsTG (p.Ala630Val)	CCDC40 (A630V)	Indel (missense variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 162849	NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)	CCDC40 (A630V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 162850	NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 260956	NM_017950.4(CCDC40):c.2163C>A (p.Ile721=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 260957	NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)	CCDC40 (E743K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 260958	NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)	CCDC40 (P751T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 178710	NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)	CCDC40 (L752P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +3 more	GBenign/Likely benign
Select item 162851	NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)	CCDC40 (V775M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 260959	NM_017950.4(CCDC40):c.2332C>T (p.Leu778=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 241236	NM_017950.4(CCDC40):c.2336G>A (p.Arg779His)	CCDC40 (R779H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +3 more	GBenign/Likely benign
Select item 325742	NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly)	CCDC40 (A796G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +2 more	GConflicting classifications of pathogenicity
Select item 260960	NM_017950.4(CCDC40):c.2449+19G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 226491	NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 220092	NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys)	CCDC40 (R870C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 260961	NM_017950.4(CCDC40):c.2619+25G>A	CCDC40	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2338527	NM_017950.4(CCDC40):c.2627A>G (p.Glu876Gly)	CCDC40 (E876G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 260962	NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 407769	NM_017950.4(CCDC40):c.2712-1G>T	CCDC40	Single nucleotide variant (splice acceptor variant)	CCDC40-related condition +3 more	GPathogenic/Likely pathogenic
Select item 241237	NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 241238	NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser)	CCDC40 (G929S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2630660	NM_017950.4(CCDC40):c.2830A>T (p.Lys944Ter)	CCDC40 (K944*)	Single nucleotide variant (nonsense)	CCDC40-related condition	GLikely pathogenic
Select item 260963	NM_017950.4(CCDC40):c.2832+20G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 226492	NM_017950.4(CCDC40):c.2868G>A (p.Lys956=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 260964	NM_017950.4(CCDC40):c.2892G>A (p.Ala964=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 260965	NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)	CCDC40 (R967H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 226493	NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu)	CCDC40 (R967L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 3054171	NM_017950.4(CCDC40):c.2913C>T (p.Val971=)	CCDC40	Single nucleotide variant (synonymous variant)	CCDC40-related condition	GLikely benign
Select item 241241	NM_017950.4(CCDC40):c.2958C>T (p.Leu986=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 288542	NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)	CCDC40 (D990N)	Single nucleotide variant (missense variant)	CCDC40-related condition +3 more	GConflicting classifications of pathogenicity
Select item 260966	NM_017950.4(CCDC40):c.3021+24_3021+25del	CCDC40	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 260968	NM_017950.4(CCDC40):c.3022-48C>T	CCDC40	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260967	NM_017950.4(CCDC40):c.3022-28G>A	CCDC40	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 260969	NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178711	NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +4 more	GBenign
Select item 260970	NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)	CCDC40 (V1016I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 525521	NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 260971	NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val)	CCDC40 (L1037V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 696386	NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=)	CCDC40	Single nucleotide variant (synonymous variant)	CCDC40-related condition +2 more	GLikely benign
Select item 525411	NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln)	CCDC40 (R1059Q)	Single nucleotide variant (missense variant)	CCDC40-related condition +2 more	GUncertain significance
Select item 260972	NM_017950.4(CCDC40):c.3180+45A>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +2 more	GBenign
Select item 162852	NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +4 more	GBenign
Select item 95880	NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)	CCDC40, GAA (V1114M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +4 more	GBenign/Likely benign
Select item 178712	NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +4 more	GBenign
Select item 162853	NM_017950.4(CCDC40):c.*15T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign
Select item 260944	NM_017950.4(CCDC40):c.*17C>T	CCDC40	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 92484	NM_000152.5(GAA):c.324T>C (p.Cys108=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database

ClinVar

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Items: 94