ClinVar for Gene (Select 80071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263941	NM_025004.3(CCDC15):c.2062G>A (p.Val688Met)	CCDC15 (V688M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263940	NM_025004.3(CCDC15):c.2468T>G (p.Met823Arg)	CCDC15 (M823R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263939	NM_025004.3(CCDC15):c.1625G>A (p.Arg542Lys)	CCDC15 (R542K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263938	NM_025004.3(CCDC15):c.439C>G (p.Pro147Ala)	CCDC15 (P147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263937	NM_025004.3(CCDC15):c.980A>G (p.Asp327Gly)	CCDC15 (D327G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263936	NM_025004.3(CCDC15):c.400C>T (p.Pro134Ser)	CCDC15 (P134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263935	NM_025004.3(CCDC15):c.328G>A (p.Ala110Thr)	CCDC15 (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263934	NM_025004.3(CCDC15):c.2743C>T (p.Arg915Trp)	CCDC15 (R915W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263933	NM_025004.3(CCDC15):c.341G>T (p.Gly114Val)	CCDC15 (G114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252068	NM_025004.3(CCDC15):c.268C>T (p.Arg90Ter)	CCDC15 (R90*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3138518	NM_025004.3(CCDC15):c.883C>T (p.Pro295Ser)	CCDC15 (P295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138517	NM_025004.3(CCDC15):c.82G>A (p.Val28Met)	CCDC15 (V28M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138516	NM_025004.3(CCDC15):c.372C>G (p.His124Gln)	CCDC15 (H124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138515	NM_025004.3(CCDC15):c.362C>T (p.Ser121Leu)	CCDC15 (S121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138514	NM_025004.3(CCDC15):c.314A>T (p.Lys105Met)	CCDC15 (K105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138512	NM_025004.3(CCDC15):c.2753A>T (p.His918Leu)	CCDC15 (H918L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138511	NM_025004.3(CCDC15):c.2653C>G (p.Leu885Val)	CCDC15 (L885V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138510	NM_025004.3(CCDC15):c.2281G>A (p.Val761Met)	CCDC15 (V761M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138509	NM_025004.3(CCDC15):c.2172G>T (p.Glu724Asp)	CCDC15 (E724D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138508	NM_025004.3(CCDC15):c.1920T>G (p.Phe640Leu)	CCDC15 (F640L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138507	NM_025004.3(CCDC15):c.1864A>G (p.Ile622Val)	CCDC15 (I622V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138506	NM_025004.3(CCDC15):c.1793A>C (p.Asn598Thr)	CCDC15 (N598T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138505	NM_025004.3(CCDC15):c.16G>A (p.Ala6Thr)	CCDC15 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138504	NM_025004.3(CCDC15):c.1601C>T (p.Pro534Leu)	CCDC15 (P534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138503	NM_025004.3(CCDC15):c.131C>T (p.Ala44Val)	CCDC15 (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138502	NM_025004.3(CCDC15):c.130G>T (p.Ala44Ser)	CCDC15 (A44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138501	NM_025004.3(CCDC15):c.1226C>T (p.Thr409Ile)	CCDC15 (T409I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642510	NM_025004.3(CCDC15):c.1635T>C (p.His545=)	CCDC15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600861	NM_025004.3(CCDC15):c.742A>G (p.Met248Val)	CCDC15 (M248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600528	NM_025004.3(CCDC15):c.443C>G (p.Pro148Arg)	CCDC15 (P148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598296	NM_025004.3(CCDC15):c.2645T>C (p.Leu882Ser)	CCDC15 (L882S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598146	NM_025004.3(CCDC15):c.2554G>A (p.Glu852Lys)	CCDC15 (E852K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549999	NM_025004.3(CCDC15):c.1162A>G (p.Thr388Ala)	CCDC15 (T388A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547507	NM_025004.3(CCDC15):c.2155C>G (p.Leu719Val)	CCDC15 (L719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528806	NM_025004.3(CCDC15):c.304C>G (p.Gln102Glu)	CCDC15 (Q102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528718	NM_025004.3(CCDC15):c.1396A>G (p.Lys466Glu)	CCDC15 (K466E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524868	NM_025004.3(CCDC15):c.2837G>A (p.Arg946Gln)	CCDC15 (R946Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2492997	NM_025004.3(CCDC15):c.64C>T (p.Pro22Ser)	CCDC15 (P22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490653	NM_025004.3(CCDC15):c.2009A>G (p.Asp670Gly)	CCDC15 (D670G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486678	NM_025004.3(CCDC15):c.75C>A (p.Ser25Arg)	CCDC15 (S25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481967	NM_025004.3(CCDC15):c.1727T>C (p.Ile576Thr)	CCDC15 (I576T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475920	NM_025004.3(CCDC15):c.1265A>G (p.Lys422Arg)	CCDC15 (K422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473924	NM_025004.3(CCDC15):c.2000A>G (p.Lys667Arg)	CCDC15 (K667R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 2395997	NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys)	CCDC15 (R181C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2394616	NM_025004.3(CCDC15):c.1972C>G (p.Leu658Val)	CCDC15 (L658V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383878	NM_025004.3(CCDC15):c.890G>T (p.Ser297Ile)	CCDC15 (S297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381153	NM_025004.3(CCDC15):c.889A>G (p.Ser297Gly)	CCDC15 (S297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379563	NM_025004.3(CCDC15):c.1262C>T (p.Thr421Met)	CCDC15 (T421M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366171	NM_025004.3(CCDC15):c.649C>T (p.Pro217Ser)	CCDC15 (P217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365035	NM_025004.3(CCDC15):c.55G>A (p.Ala19Thr)	CCDC15 (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361815	NM_025004.3(CCDC15):c.1268A>T (p.Asn423Ile)	CCDC15 (N423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335582	NM_025004.3(CCDC15):c.947A>G (p.Glu316Gly)	CCDC15 (E316G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315651	NM_025004.3(CCDC15):c.2323C>G (p.Leu775Val)	CCDC15 (L775V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292927	NM_025004.3(CCDC15):c.2053G>A (p.Glu685Lys)	CCDC15 (E685K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291748	NM_025004.3(CCDC15):c.1169G>C (p.Gly390Ala)	CCDC15 (G390A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278140	NM_025004.3(CCDC15):c.1475A>G (p.Asp492Gly)	CCDC15 (D492G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265908	NM_025004.3(CCDC15):c.966T>G (p.Phe322Leu)	CCDC15 (F322L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2230979	NM_025004.3(CCDC15):c.2368A>G (p.Lys790Glu)	CCDC15 (K790E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227184	NM_025004.3(CCDC15):c.1204G>A (p.Glu402Lys)	CCDC15 (E402K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215943	NM_025004.3(CCDC15):c.2443G>T (p.Ala815Ser)	CCDC15 (A815S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206290	NM_025004.3(CCDC15):c.1760C>A (p.Pro587His)	CCDC15 (P587H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808761	GRCh37/hg19 11q24.2(chr11:124788547-124894689)x1	CCDC15, HEPACAM +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	ACRV1, CCDC15 +56 more	Duplication	Holoprosencephaly 11	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 790112	NM_025004.3(CCDC15):c.341G>C (p.Gly114Ala)	CCDC15 (G114A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779149	NM_025004.3(CCDC15):c.30T>C (p.Pro10=)	CCDC15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 395037	GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1	CCDC15, ESAM +19 more	Copy number loss	See cases	GPathogenic
Select item 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic
Select item 221484	GRCh37/hg19 11q24.2(chr11:124824717-124951727)x3	SLC37A2, CCDC15	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic

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