ClinVar for MedGen (Select 462487) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254712	NM_017950.4(CCDC40):c.2096_2104del (p.Asp699_Asp701del)	CCDC40	Deletion (inframe_deletion)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 3235033	NM_017950.4(CCDC40):c.2476C>T (p.Gln826Ter)	CCDC40 (Q826*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 3064777	NM_017950.4(CCDC40):c.1096C>G (p.Leu366Val)	CCDC40 (L366V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 3064675	NM_017950.4(CCDC40):c.2832+461_2832+462insCCA	CCDC40	Insertion (inframe_insertion +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 2648392	NM_017950.4(CCDC40):c.1562+2003C>A	CCDC40 (P556H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 15 +1 more	GLikely benign
Select item 2505170	NM_017950.4(CCDC40):c.2236-213_2832+2269del	CCDC40	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 15	GPathogenic
Select item 2505169	NM_017950.4(CCDC40):c.2619+45G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15	GPathogenic
Select item 2439800	NM_017950.4(CCDC40):c.3103G>A (p.Glu1035Lys)	CCDC40 (E1035K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 2439799	NM_017950.4(CCDC40):c.466G>A (p.Val156Ile)	CCDC40 (V156I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 2439797	NM_017950.4(CCDC40):c.595G>C (p.Gly199Arg)	CCDC40 (G199R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 2438898	NM_017950.4(CCDC40):c.833dup (p.Val279fs)	CCDC40 (V279fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 2431510	NM_017950.4(CCDC40):c.1266_1281dup (p.Glu428fs)	CCDC40 (E428fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 15	GPathogenic
Select item 1795876	NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1704380	NM_017950.4(CCDC40):c.798del (p.Ser267fs)	CCDC40 (S267fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 15	GPathogenic
Select item 1704368	NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)	CCDC40 (K918fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1698886	NM_017950.4(CCDC40):c.3092_3093dup (p.Glu1032Ter)	CCDC40 (E1032*)	Duplication (nonsense)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 1698795	NM_017950.4(CCDC40):c.2257dup (p.Glu753fs)	CCDC40 (E753fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 1526048	NM_017950.4(CCDC40):c.3G>A (p.Met1Ile)	CCDC40 (M1I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 1487085	NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln)	CCDC40 (R321Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1417234	NM_017950.4(CCDC40):c.552G>A (p.Leu184=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1397000	NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr)	CCDC40 (M808T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1371496	NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)	CCDC40 (R1059*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1306618	NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met)	CCDC40 (K507M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1192699	NM_017950.4(CCDC40):c.2450-53G>A	CCDC40	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192657	NM_017950.4(CCDC40):c.2450-89A>C	CCDC40	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1061235	NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn)	CCDC40 (D410N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 1049537	NM_017950.4(CCDC40):c.1562+2018C>T	CCDC40 (A561V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 1048769	NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys)	CCDC40 (Q171K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1032012	NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val)	CCDC40 (L1062V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1015506	NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn)	CCDC40 (D486N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 993036	NM_017950.4(CCDC40):c.2832+360C>T	CCDC40 (R980*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 931828	NM_017950.4(CCDC40):c.2832+395dup	CCDC40 (Q992fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 931708	NM_017950.4(CCDC40):c.2832+297G>T	CCDC40 (E959*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 931392	NM_017950.4(CCDC40):c.298del (p.Thr100fs)	CCDC40 (T100fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 931391	NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys)	CCDC40 (E603K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 931141	NM_017950.4(CCDC40):c.2832+306G>T	CCDC40 (G962W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 892255	NM_017950.4(CCDC40):c.*201G>A	CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 892196	NM_017950.4(CCDC40):c.2936G>A (p.Arg979His)	CCDC40 (R979H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 892195	NM_017950.4(CCDC40):c.2841C>T (p.Leu947=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +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)	Usher syndrome +2 more	GConflicting classifications of pathogenicity
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 892090	NM_017950.4(CCDC40):c.994T>C (p.Tyr332His)	CCDC40 (Y332H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
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 891115	NM_000152.5(GAA):c.-75C>G	CCDC40, GAA	Single nucleotide variant (5 prime UTR variant +2 more)	Glycogen storage disease, type II +2 more	GLikely benign
Select item 890961	NM_017950.4(CCDC40):c.2711+11G>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 890960	NM_017950.4(CCDC40):c.2609G>A (p.Arg870His)	CCDC40 (R870H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 890550	NM_000152.5(GAA):c.-325C>T	CCDC40, GAA +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type II +1 more	GUncertain significance
Select item 890549	NM_017950.4(CCDC40):c.*706T>C	CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 890548	NM_017950.4(CCDC40):c.*681T>C	CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 890469	NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His)	CCDC40 (R1088H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 890468	NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)	GAA, CCDC40 (R1071H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GUncertain significance
Select item 890467	NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met)	CCDC40 (V1066M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 890400	NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)	CCDC40 (M833V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 890288	NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln)	CCDC40 (R205Q)	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 15 +1 more	GUncertain significance
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 888851	NM_017950.4(CCDC40):c.*517G>C	CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 888762	NM_017950.4(CCDC40):c.3021+13G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 888761	NM_017950.4(CCDC40):c.2967C>T (p.Thr989=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 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 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 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 852269	NM_017950.4(CCDC40):c.1109G>A (p.Arg370His)	CCDC40 (R370H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 842933	NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln)	CCDC40 (E255Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 837014	NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys)	CCDC40 (E254K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 803468	NM_017950.4(CCDC40):c.2832+332_2832+395del	CCDC40 (K970fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 699086	NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val)	CCDC40 (L401V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 697248	NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +1 more	GLikely benign
Select item 696386	NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=)	CCDC40	Single nucleotide variant (synonymous variant)	CCDC40-related disorder +2 more	GLikely benign
Select item 696339	NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)	CCDC40 (E743D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 661903	NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs)	CCDC40 (I1002fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 15 +1 more	GPathogenic
Select item 659522	NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)	CCDC40 (R472W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 658381	NM_017950.4(CCDC40):c.676+2_676+3dup	CCDC40	Duplication (splice donor variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 656923	NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn)	CCDC40 (T574N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 655647	NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu)	CCDC40 (D510E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 651981	NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln)	CCDC40 (R1000Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 649795	NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp)	CCDC40 (R862W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	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 632291	NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs)	CCDC40 (E1096fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 583321	NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)	CCDC40 (D233N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 574268	NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)	CCDC40 (K438*)	Single nucleotide variant (nonsense)	CCDC40-related disorder +2 more	GPathogenic
Select item 573257	NM_017950.4(CCDC40):c.3129del (p.Phe1044fs)	CCDC40 (F1044fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 572208	NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)	CCDC40 (Q142*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
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 525571	NM_017950.4(CCDC40):c.1248C>T (p.Arg416=)	CCDC40	Single nucleotide variant (synonymous 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 +2 more	GConflicting classifications of pathogenicity
Select item 525411	NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln)	CCDC40 (R1059Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 454887	NM_017950.4(CCDC40):c.2996G>A (p.Arg999His)	CCDC40 (R999H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454877	NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser)	CCDC40 (G48S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454876	NM_017950.4(CCDC40):c.1275C>T (p.Ala425=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 414641	NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr)	CCDC40 (A458T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GBenign/Likely benign
Select item 407776	NM_017950.4(CCDC40):c.1860C>T (p.Gly620=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 407773	NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)	CCDC40 (N396I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 407770	NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter)	CCDC40 (E426*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
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 325766	NM_017950.4(CCDC40):c.*663C>T	CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 325765	NM_017950.4(CCDC40):c.*654A>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 325764	NM_017950.4(CCDC40):c.*633C>G	CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 15	GLikely benign
Select item 325762	NM_017950.4(CCDC40):c.*415G>A	CCDC40	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 15	GUncertain significance

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