CCDC18[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 151368	GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1	CCDC18, CCDC18-AS1 +39 more	Copy number loss	See cases	GPathogenic
Select item 2286461	NM_016040.5(TMED5):c.180C>G (p.Ile60Met)	CCDC18, TMED5 (I60M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048946	NM_001378204.1(CCDC18):c.117A>G (p.Leu39=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GLikely benign
Select item 3138910	NM_001378204.1(CCDC18):c.135T>A (p.Ser45Arg)	CCDC18 (S45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138911	NM_001378204.1(CCDC18):c.145A>C (p.Ser49Arg)	CCDC18 (S49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624258	NM_001378204.1(CCDC18):c.146G>A (p.Ser49Asn)	CCDC18 (S49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138916	NM_001378204.1(CCDC18):c.169A>G (p.Asn57Asp)	CCDC18 (N57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138925	NM_001378204.1(CCDC18):c.286A>G (p.Lys96Glu)	CCDC18 (K96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783939	NM_001378204.1(CCDC18):c.324T>C (p.Pro108=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder +1 more	GBenign
Select item 2336816	NM_001378204.1(CCDC18):c.409T>A (p.Leu137Ile)	CCDC18 (L137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034365	NM_001378204.1(CCDC18):c.459A>G (p.Ala153=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GLikely benign
Select item 2236972	NM_001378204.1(CCDC18):c.487C>G (p.Gln163Glu)	CCDC18 (Q163E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538462	NM_001378204.1(CCDC18):c.520C>A (p.Gln174Lys)	CCDC18 (Q174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043777	NM_001378204.1(CCDC18):c.569+9A>G	CCDC18	Single nucleotide variant (intron variant)	CCDC18-related disorder	GBenign
Select item 3138932	NM_001378204.1(CCDC18):c.670T>G (p.Leu224Val)	CCDC18 (L224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257362	NM_001378204.1(CCDC18):c.743T>C (p.Leu248Pro)	CCDC18 (L248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060341	NM_001378204.1(CCDC18):c.942C>T (p.Asn314=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GBenign
Select item 3060557	NM_001378204.1(CCDC18):c.977A>C (p.Asn326Thr)	CCDC18 (N326T)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GBenign
Select item 3138907	NM_001378204.1(CCDC18):c.1068C>A (p.Asp356Glu)	CCDC18 (D356E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208280	NM_001378204.1(CCDC18):c.1081A>G (p.Met361Val)	CCDC18 (M361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458988	NM_001378204.1(CCDC18):c.1094G>A (p.Arg365Gln)	CCDC18 (R365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308170	NM_001378204.1(CCDC18):c.1109G>A (p.Arg370His)	CCDC18 (R370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138908	NM_001378204.1(CCDC18):c.1124A>G (p.Asn375Ser)	CCDC18 (N375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341464	NM_001378204.1(CCDC18):c.1162T>A (p.Ser388Thr)	CCDC18 (S388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557849	NM_001378204.1(CCDC18):c.1253A>G (p.Tyr418Cys)	CCDC18 (Y418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048350	NM_001378204.1(CCDC18):c.1285C>T (p.Arg429Cys)	CCDC18 (R429C)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GBenign
Select item 716047	NM_001378204.1(CCDC18):c.1290C>T (p.Cys430=)	CCDC18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2323138	NM_001378204.1(CCDC18):c.1291A>G (p.Ile431Val)	CCDC18 (I431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138909	NM_001378204.1(CCDC18):c.1306G>A (p.Ala436Thr)	CCDC18 (A436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264411	NM_001378204.1(CCDC18):c.1318G>A (p.Val440Met)	CCDC18 (V440M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3056211	NM_001378204.1(CCDC18):c.1329A>C (p.Glu443Asp)	CCDC18 (E443D)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GBenign
Select item 2489359	NM_001378204.1(CCDC18):c.1342C>T (p.Leu448Phe)	CCDC18 (L448F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044139	NM_001378204.1(CCDC18):c.1343T>C (p.Leu448Pro)	CCDC18 (L448P)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GLikely benign
Select item 2398336	NM_001378204.1(CCDC18):c.1391C>G (p.Ala464Gly)	CCDC18 (A464G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219984	NM_001378204.1(CCDC18):c.1431C>A (p.Ser477Arg)	CCDC18 (S477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032595	NM_001378204.1(CCDC18):c.1438A>G (p.Ser480Gly)	CCDC18 (S480G)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GLikely benign
Select item 3053028	NM_001378204.1(CCDC18):c.1469C>A (p.Pro490His)	CCDC18 (P490H)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GLikely benign
Select item 2543464	NM_001378204.1(CCDC18):c.1523A>G (p.His508Arg)	CCDC18 (H507R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407550	NM_001378204.1(CCDC18):c.1567A>C (p.Thr523Pro)	CCDC18 (T523P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220478	NM_001378204.1(CCDC18):c.1568C>T (p.Thr523Ile)	CCDC18 (T522I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138912	NM_001378204.1(CCDC18):c.1626G>T (p.Leu542Phe)	CCDC18 (L541F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138914	NM_001378204.1(CCDC18):c.1637T>C (p.Met546Thr)	CCDC18 (M545T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138915	NM_001378204.1(CCDC18):c.1669C>G (p.Gln557Glu)	CCDC18 (Q557E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045349	NM_001378204.1(CCDC18):c.1711G>A (p.Glu571Lys)	CCDC18 (E570K +1 more)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GLikely benign
Select item 2467265	NM_001378204.1(CCDC18):c.1751T>C (p.Leu584Pro)	CCDC18 (L584P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273273	NM_001378204.1(CCDC18):c.1861A>G (p.Thr621Ala)	CCDC18 (T621A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138917	NM_001378204.1(CCDC18):c.1904A>T (p.Glu635Val)	CCDC18 (E634V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138918	NM_001378204.1(CCDC18):c.1943T>C (p.Met648Thr)	CCDC18 (M647T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048752	NM_001378204.1(CCDC18):c.2010A>G (p.Glu670=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GLikely benign
Select item 2483524	NM_001378204.1(CCDC18):c.2084C>A (p.Thr695Lys)	CCDC18 (T694K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057900	NM_001378204.1(CCDC18):c.2085G>A (p.Thr695=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GLikely benign
Select item 3138919	NM_001378204.1(CCDC18):c.2089A>G (p.Ser697Gly)	CCDC18 (S696G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547209	NM_001378204.1(CCDC18):c.2121G>C (p.Lys707Asn)	CCDC18 (K706N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778797	NM_001378204.1(CCDC18):c.2176-9C>T	CCDC18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2527832	NM_001378204.1(CCDC18):c.2191T>G (p.Ser731Ala)	CCDC18 (S730A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138920	NM_001378204.1(CCDC18):c.2233A>C (p.Asn745His)	CCDC18 (N745H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060311	NM_001378204.1(CCDC18):c.2293-21AT[6]	CCDC18	Microsatellite (intron variant)	CCDC18-related disorder	GBenign
Select item 2268161	NM_001378204.1(CCDC18):c.2329C>G (p.His777Asp)	CCDC18 (H777D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477368	NM_001378204.1(CCDC18):c.2381A>C (p.Gln794Pro)	CCDC18 (Q793P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037509	NM_001378204.1(CCDC18):c.2382G>A (p.Gln794=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GBenign
Select item 2514877	NM_001378204.1(CCDC18):c.2398T>G (p.Leu800Val)	CCDC18 (L800V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786465	NM_001378204.1(CCDC18):c.2451T>G (p.Leu817=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder +1 more	GBenign
Select item 3138921	NM_001378204.1(CCDC18):c.2522A>G (p.Lys841Arg)	CCDC18 (K840R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138922	NM_001378204.1(CCDC18):c.2582T>C (p.Ile861Thr)	CCDC18 (I860T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271119	NM_001378204.1(CCDC18):c.2596A>G (p.Thr866Ala)	CCDC18 (T865A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591440	NM_001378204.1(CCDC18):c.2632A>G (p.Lys878Glu)	CCDC18 (K877E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366991	NM_001378204.1(CCDC18):c.2678G>A (p.Arg893Gln)	CCDC18 (R892Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037857	NM_001378204.1(CCDC18):c.2689A>G (p.Asn897Asp)	CCDC18 (N896D +1 more)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GBenign
Select item 2254840	NM_001378204.1(CCDC18):c.2707T>C (p.Ser903Pro)	CCDC18 (S902P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138924	NM_001378204.1(CCDC18):c.2819C>T (p.Ala940Val)	CCDC18 (A939V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058629	NM_001378204.1(CCDC18):c.2982-6T>C	CCDC18	Single nucleotide variant (intron variant)	CCDC18-related disorder	GLikely benign
Select item 3138926	NM_001378204.1(CCDC18):c.2999T>C (p.Ile1000Thr)	CCDC18 (I1000T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315746	NM_001378204.1(CCDC18):c.3152G>C (p.Gly1051Ala)	CCDC18 (G1051A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060609	NM_001378204.1(CCDC18):c.3241C>G (p.Leu1081Val)	CCDC18 (L1080V +1 more)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GBenign
Select item 3055670	NM_001378204.1(CCDC18):c.3324G>T (p.Arg1108Ser)	CCDC18 (R1107S +1 more)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GBenign
Select item 3053338	NM_001378204.1(CCDC18):c.3324G>A (p.Arg1108=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GBenign
Select item 3138927	NM_001378204.1(CCDC18):c.3442C>A (p.His1148Asn)	CCDC18 (H1147N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293196	NM_001378204.1(CCDC18):c.3464G>A (p.Arg1155His)	CCDC18 (R1154H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045003	NM_001378204.1(CCDC18):c.3506C>T (p.Ser1169Phe)	CCDC18 (S1168F +1 more)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GLikely benign
Select item 2252991	NM_001378204.1(CCDC18):c.3595C>A (p.Arg1199Ser)	CCDC18 (R1199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405911	NM_001378204.1(CCDC18):c.3686T>C (p.Met1229Thr)	CCDC18 (M1228T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551976	NM_001378204.1(CCDC18):c.3725C>T (p.Ser1242Phe)	CCDC18 (S1241F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138930	NM_001378204.1(CCDC18):c.3797A>C (p.Glu1266Ala)	CCDC18 (E1265A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040891	NM_001378204.1(CCDC18):c.3807T>A (p.Asp1269Glu)	CCDC18 (D1268E +1 more)	Single nucleotide variant (missense variant)	CCDC18-related disorder	GBenign
Select item 3138931	NM_001378204.1(CCDC18):c.3808A>G (p.Thr1270Ala)	CCDC18 (T1269A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038699	NM_001378204.1(CCDC18):c.3840T>C (p.Asp1280=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GLikely benign
Select item 3034057	NM_001378204.1(CCDC18):c.3843G>A (p.Arg1281=)	CCDC18	Single nucleotide variant (synonymous variant)	CCDC18-related disorder	GBenign
Select item 2280574	NM_001378204.1(CCDC18):c.3851T>C (p.Val1284Ala)	CCDC18 (V1284A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262397	NM_001378204.1(CCDC18):c.3883A>G (p.Lys1295Glu)	CCDC18 (K1295E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038261	NM_001378204.1(CCDC18):c.3916A>T (p.Ile1306Phe)	CCDC18 (I1305F +1 more)	Single nucleotide variant (missense variant +1 more)	CCDC18-related disorder	GBenign
Select item 3043389	NM_001378204.1(CCDC18):c.4272T>C (p.Leu1424=)	CCDC18	Single nucleotide variant (synonymous variant +1 more)	CCDC18-related disorder	GLikely benign
Select item 3047544	NM_001378204.1(CCDC18):c.4319_4320insCCT (p.Lys1440delinsAsnLeu)	CCDC18	Insertion (inframe_indel +1 more)	CCDC18-related disorder	GLikely benign
Select item 981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	BRDT, BTBD8 +15 more	Copy number loss	Diamond-Blackfan anemia 6	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 97