CCDC186[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 3139011	NM_018017.4(CCDC186):c.2680A>G (p.Arg894Gly)	CCDC186 (R894G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378257	NM_018017.4(CCDC186):c.2672T>G (p.Leu891Arg)	CCDC186 (L891R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351409	NM_018017.4(CCDC186):c.2635A>G (p.Thr879Ala)	CCDC186 (T879A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527273	NM_018017.4(CCDC186):c.2525A>G (p.Asn842Ser)	CCDC186 (N842S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2305747	NM_018017.4(CCDC186):c.2461A>C (p.Lys821Gln)	CCDC186 (K821Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383523	NM_018017.4(CCDC186):c.2335A>T (p.Ile779Leu)	CCDC186 (I779L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271885	NM_018017.4(CCDC186):c.2254A>G (p.Asn752Asp)	CCDC186 (N752D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541186	NM_018017.4(CCDC186):c.2212G>A (p.Asp738Asn)	CCDC186 (D738N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264146	NM_018017.4(CCDC186):c.2198G>A (p.Arg733Gln)	CCDC186 (R733Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3139010	NM_018017.4(CCDC186):c.2168G>A (p.Arg723His)	CCDC186 (R723H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553482	NM_018017.4(CCDC186):c.2154C>A (p.Ser718Arg)	CCDC186 (S718R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139009	NM_018017.4(CCDC186):c.2128A>G (p.Ser710Gly)	CCDC186 (S710G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3342514	NM_018017.4(CCDC186):c.2104C>T (p.Arg702Ter)	CCDC186 (R702*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2483753	NM_018017.4(CCDC186):c.1958A>G (p.Gln653Arg)	CCDC186 (Q653R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523347	NM_018017.4(CCDC186):c.1955T>A (p.Val652Asp)	CCDC186 (V652D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294148	NM_018017.4(CCDC186):c.1829A>T (p.Gln610Leu)	CCDC186 (Q610L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3264148	NM_018017.4(CCDC186):c.1786A>G (p.Thr596Ala)	CCDC186 (T596A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226366	NM_018017.4(CCDC186):c.1748A>G (p.Lys583Arg)	CCDC186 (K583R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352298	NM_018017.4(CCDC186):c.1735G>A (p.Glu579Lys)	CCDC186 (E579K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346165	NM_018017.4(CCDC186):c.1628C>G (p.Ala543Gly)	CCDC186 (A543G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139008	NM_018017.4(CCDC186):c.1610T>C (p.Leu537Ser)	CCDC186 (L537S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559148	NM_018017.4(CCDC186):c.1541G>A (p.Arg514Lys)	CCDC186 (R514K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 715023	NM_018017.4(CCDC186):c.1446G>A (p.Lys482=)	CCDC186	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3342520	NM_018017.4(CCDC186):c.1237_1242del (p.Leu413_Lys414del)	CCDC186	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 732655	NM_018017.4(CCDC186):c.1203T>C (p.Ala401=)	CCDC186	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2622488	NM_018017.4(CCDC186):c.1193A>G (p.Lys398Arg)	CCDC186 (K398R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510961	NM_018017.4(CCDC186):c.1137C>G (p.Asp379Glu)	CCDC186 (D379E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139007	NM_018017.4(CCDC186):c.1108G>A (p.Glu370Lys)	CCDC186 (E370K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3264145	NM_018017.4(CCDC186):c.1075C>T (p.Arg359Trp)	CCDC186 (R359W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139018	NM_018017.4(CCDC186):c.981G>T (p.Lys327Asn)	CCDC186 (K327N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606404	NM_018017.4(CCDC186):c.917A>G (p.Gln306Arg)	CCDC186 (Q306R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233465	NM_018017.4(CCDC186):c.892A>C (p.Asn298His)	CCDC186 (N298H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542226	NM_018017.4(CCDC186):c.877C>T (p.Arg293Trp)	CCDC186 (R293W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3264147	NM_018017.4(CCDC186):c.770G>T (p.Arg257Ile)	CCDC186 (R257I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1120267	NM_018017.4(CCDC186):c.767C>G (p.Ser256Ter)	CCDC186 (S256*)	Single nucleotide variant (nonsense +1 more)	Microcephaly +9 more	GPathogenic
Select item 3139017	NM_018017.4(CCDC186):c.706G>A (p.Glu236Lys)	CCDC186 (E236K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3373567	NM_018017.4(CCDC186):c.696_700del (p.Asn232fs)	CCDC186 (N232fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3139016	NM_018017.4(CCDC186):c.629A>C (p.Lys210Thr)	CCDC186 (K210T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1120266	NM_018017.4(CCDC186):c.610C>T (p.Gln204Ter)	CCDC186 (Q204*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2472183	NM_018017.4(CCDC186):c.602A>C (p.Lys201Thr)	CCDC186 (K201T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548960	NM_018017.4(CCDC186):c.550A>G (p.Met184Val)	CCDC186 (M184V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211488	NM_018017.4(CCDC186):c.518C>T (p.Thr173Met)	CCDC186 (T173M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139015	NM_018017.4(CCDC186):c.517A>G (p.Thr173Ala)	CCDC186 (T173A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606921	NM_018017.4(CCDC186):c.457A>G (p.Ile153Val)	CCDC186 (I153V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269678	NM_018017.4(CCDC186):c.446T>C (p.Phe149Ser)	CCDC186 (F149S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209801	NM_018017.4(CCDC186):c.422A>C (p.Tyr141Ser)	CCDC186 (Y141S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139014	NM_018017.4(CCDC186):c.394A>G (p.Asn132Asp)	CCDC186 (N132D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590103	NM_018017.4(CCDC186):c.385G>A (p.Glu129Lys)	CCDC186 (E129K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238315	NM_018017.4(CCDC186):c.359T>A (p.Val120Glu)	CCDC186 (V120E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547627	NM_018017.4(CCDC186):c.343G>A (p.Val115Ile)	CCDC186 (V115I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139013	NM_018017.4(CCDC186):c.326A>G (p.Asn109Ser)	CCDC186 (N109S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2546025	NM_018017.4(CCDC186):c.319A>G (p.Lys107Glu)	CCDC186 (K107E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139012	NM_018017.4(CCDC186):c.304G>T (p.Ala102Ser)	CCDC186 (A102S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220908	NM_018017.4(CCDC186):c.292A>C (p.Ser98Arg)	CCDC186 (S98R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139019	NM_018017.4(CCDC186):c.98A>G (p.Asn33Ser)	CCDC186 (N33S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 83