"Illumina Laboratory Services, Illumina"[submitter] AND "CCDC40"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260945	NM_017950.3(CCDC40):c.-36C>T	CCDC40	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 892050	NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly)	CCDC40 (R10G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 454877	NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser)	CCDC40 (G48S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
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 31069	NM_017950.4(CCDC40):c.248del (p.Ala83fs)	CCDC40 (A83fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 15 +2 more	GPathogenic
Select item 325722	NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys)	CCDC40 (Y86C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 888590	NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys)	CCDC40 (Y97C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 166808	NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)	CCDC40 (T112A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
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 325723	NM_017950.4(CCDC40):c.388G>A (p.Asp130Asn)	CCDC40 (D130N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
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 325724	NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu)	CCDC40 (S169L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
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 890286	NM_017950.4(CCDC40):c.552+5G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 325725	NM_017950.4(CCDC40):c.553-6C>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 325726	NM_017950.4(CCDC40):c.598G>A (p.Val200Ile)	CCDC40 (V200I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 890287	NM_017950.4(CCDC40):c.608G>A (p.Arg203His)	CCDC40 (R203H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 890288	NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln)	CCDC40 (R205Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 197317	NM_017950.4(CCDC40):c.630C>T (p.Ser210=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 241243	NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn)	CCDC40 (D211N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 216700	NM_017950.4(CCDC40):c.662T>C (p.Val221Ala)	CCDC40 (V221A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 178707	NM_017950.4(CCDC40):c.676+13T>C	CCDC40	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 583321	NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)	CCDC40 (D233N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +2 more	GConflicting classifications of pathogenicity
Select item 837014	NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys)	CCDC40 (E254K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
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 178708	NM_017950.4(CCDC40):c.873C>T (p.Phe291=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +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 +3 more	GBenign
Select item 325727	NM_017950.4(CCDC40):c.966C>T (p.Ala322=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 892090	NM_017950.4(CCDC40):c.994T>C (p.Tyr332His)	CCDC40 (Y332H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 892091	NM_017950.4(CCDC40):c.1054C>T (p.His352Tyr)	CCDC40 (H352Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 241229	NM_017950.4(CCDC40):c.1076G>A (p.Arg359His)	CCDC40 (R359H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +2 more	GUncertain significance
Select item 566968	NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr)	CCDC40 (A369T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 241230	NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)	CCDC40 (K375Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 226486	NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226487	NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)	CCDC40 (E382K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 888635	NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys)	CCDC40 (R384C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 162847	NM_017950.4(CCDC40):c.1159+12C>T	CCDC40	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 407773	NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)	CCDC40 (N396I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +2 more	GConflicting classifications of pathogenicity
Select item 325728	NM_017950.4(CCDC40):c.1221C>T (p.Ile407=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 525571	NM_017950.4(CCDC40):c.1248C>T (p.Arg416=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454876	NM_017950.4(CCDC40):c.1275C>T (p.Ala425=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +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)	Primary ciliary dyskinesia 15 +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 15 +3 more	GBenign
Select item 414641	NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr)	CCDC40 (A458T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 659522	NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)	CCDC40 (R472W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 325729	NM_017950.4(CCDC40):c.1440+15C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 226488	NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 325730	NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr)	CCDC40 (A487T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
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 227211	NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 325731	NM_017950.4(CCDC40):c.1468G>A (p.Val490Met)	CCDC40 (V490M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 525439	NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser)	CCDC40 (R493S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +2 more	GConflicting classifications of pathogenicity
Select item 325732	NM_017950.4(CCDC40):c.1526G>A (p.Arg509His)	CCDC40 (R509H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 178709	NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys)	CCDC40 (E511K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 325733	NM_017950.4(CCDC40):c.1544C>T (p.Ala515Val)	CCDC40 (A515V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 215523	NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)	CCDC40 (T558R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +4 more	GConflicting classifications of pathogenicity
Select item 325734	NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg)	CCDC40 (Q580R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 325735	NM_017950.4(CCDC40):c.1806+15G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 407776	NM_017950.4(CCDC40):c.1860C>T (p.Gly620=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 648750	NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met)	CCDC40 (T628M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +2 more	GUncertain significance
Select item 162849	NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)	CCDC40 (A630V)	Single nucleotide variant (missense variant)	not provided +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 325736	NM_017950.4(CCDC40):c.1896C>T (p.Ile632=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 325737	NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp)	CCDC40 (R633W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 892135	NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)	CCDC40 (R633Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 325738	NM_017950.4(CCDC40):c.1974G>A (p.Lys658=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 215897	NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn)	CCDC40 (D673N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 888697	NM_017950.4(CCDC40):c.2038G>C (p.Asp680His)	CCDC40 (D680H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 888698	NM_017950.4(CCDC40):c.2070A>C (p.Ala690=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 325739	NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 215898	NM_017950.4(CCDC40):c.2226C>T (p.Ser742=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
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 696339	NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)	CCDC40 (E743D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 325740	NM_017950.4(CCDC40):c.2236-15G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +1 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)	not specified +3 more	GBenign/Likely benign
Select item 325741	NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys)	CCDC40 (E765K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
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)	not specified +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)	not specified +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 890400	NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)	CCDC40 (M833V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 216699	NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln)	CCDC40 (R862Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 226491	NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +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 15 +2 more	GBenign/Likely benign
Select item 890960	NM_017950.4(CCDC40):c.2609G>A (p.Arg870His)	CCDC40 (R870H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 325743	NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu)	CCDC40 (S871L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 260962	NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 890961	NM_017950.4(CCDC40):c.2711+11G>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 407769	NM_017950.4(CCDC40):c.2712-1G>T	CCDC40	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 241237	NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 325744	NM_017950.4(CCDC40):c.2832+4A>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 218550	NM_017950.4(CCDC40):c.2832+462_2832+463insCAC	CCDC40	Insertion (inframe_insertion +1 more)	not provided +2 more	GBenign
Select item 892195	NM_017950.4(CCDC40):c.2841C>T (p.Leu947=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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

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