ClinVar for Gene (Select 100130274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384214	Single allele	LOC101928902, LOC105375798 +289 more	Duplication	Recombinant 8 syndrome	GLikely pathogenic
Select item 3263990	NM_001162914.1(CCDC166):c.411G>A (p.Met137Ile)	CCDC166 (M137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263989	NM_001162914.1(CCDC166):c.1237C>T (p.Arg413Trp)	CCDC166 (R413W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263988	NM_001162914.1(CCDC166):c.106C>A (p.Arg36Ser)	CCDC166 (R36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263987	NM_001162914.1(CCDC166):c.769C>T (p.Arg257Cys)	CCDC166 (R257C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263986	NM_001162914.1(CCDC166):c.1289C>A (p.Ala430Asp)	CCDC166 (A430D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138630	NM_001162914.1(CCDC166):c.986G>T (p.Arg329Leu)	CCDC166 (R329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138629	NM_001162914.1(CCDC166):c.875C>T (p.Ser292Leu)	CCDC166 (S292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138628	NM_001162914.1(CCDC166):c.817C>T (p.Arg273Cys)	CCDC166 (R273C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138627	NM_001162914.1(CCDC166):c.7C>T (p.Pro3Ser)	CCDC166, LOC101928160 (P3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138626	NM_001162914.1(CCDC166):c.779A>C (p.Glu260Ala)	CCDC166 (E260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138625	NM_001162914.1(CCDC166):c.673G>A (p.Gly225Arg)	CCDC166 (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138624	NM_001162914.1(CCDC166):c.658A>G (p.Ile220Val)	CCDC166 (I220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138623	NM_001162914.1(CCDC166):c.629T>A (p.Val210Glu)	CCDC166 (V210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138622	NM_001162914.1(CCDC166):c.490G>A (p.Glu164Lys)	CCDC166 (E164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138621	NM_001162914.1(CCDC166):c.476G>A (p.Arg159Gln)	CCDC166 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138620	NM_001162914.1(CCDC166):c.472A>G (p.Ile158Val)	CCDC166 (I158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138619	NM_001162914.1(CCDC166):c.1301C>T (p.Ala434Val)	CCDC166 (A434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138618	NM_001162914.1(CCDC166):c.1070G>A (p.Arg357Gln)	CCDC166 (R357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	ANXA13, AARD +173 more	Copy number gain	not provided	GPathogenic
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2623055	NM_001162914.1(CCDC166):c.535G>A (p.Val179Met)	CCDC166 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616983	NM_001162914.1(CCDC166):c.386A>G (p.Glu129Gly)	CCDC166 (E129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612608	NM_001162914.1(CCDC166):c.478G>A (p.Ala160Thr)	CCDC166 (A160T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611926	NM_001162914.1(CCDC166):c.352G>T (p.Gly118Trp)	CCDC166 (G118W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595874	NM_001162914.1(CCDC166):c.1151C>T (p.Ser384Leu)	CCDC166 (S384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557924	NM_001162914.1(CCDC166):c.232A>C (p.Ser78Arg)	CCDC166 (S78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491421	NM_001162914.1(CCDC166):c.1024A>G (p.Met342Val)	CCDC166 (M342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489423	NM_001162914.1(CCDC166):c.296G>C (p.Arg99Pro)	CCDC166 (R99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456977	NM_001162914.1(CCDC166):c.221G>A (p.Arg74Gln)	CCDC166 (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412264	NM_001162914.1(CCDC166):c.47G>A (p.Gly16Asp)	CCDC166, LOC101928160 (G16D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401984	NM_001162914.1(CCDC166):c.949C>A (p.Arg317Ser)	CCDC166 (R317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392053	NM_001162914.1(CCDC166):c.206T>C (p.Leu69Pro)	CCDC166 (L69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377968	NM_001162914.1(CCDC166):c.809G>A (p.Gly270Asp)	CCDC166 (G270D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372195	NM_001162914.1(CCDC166):c.338C>A (p.Ala113Asp)	CCDC166 (A113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371015	NM_001162914.1(CCDC166):c.1282G>A (p.Ala428Thr)	CCDC166 (A428T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350024	NM_001162914.1(CCDC166):c.620G>C (p.Arg207Pro)	CCDC166 (R207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345143	NM_001162914.1(CCDC166):c.826C>G (p.Pro276Ala)	CCDC166 (P276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267843	NM_001162914.1(CCDC166):c.983C>T (p.Ser328Leu)	CCDC166 (S328L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255365	NM_001162914.1(CCDC166):c.1232G>A (p.Arg411Gln)	CCDC166 (R411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244749	NM_001162914.1(CCDC166):c.570C>A (p.Phe190Leu)	CCDC166 (F190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243703	NM_001162914.1(CCDC166):c.724C>T (p.His242Tyr)	CCDC166 (H242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234988	NM_001162914.1(CCDC166):c.1100G>T (p.Gly367Val)	CCDC166 (G367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234531	NM_001162914.1(CCDC166):c.10A>C (p.Lys4Gln)	CCDC166, LOC101928160 (K4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212555	NM_001162914.1(CCDC166):c.1280A>G (p.Asn427Ser)	CCDC166 (N427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527472	GRCh37/hg19 8q24.3(chr8:144725942-145508436)	BOP1, CCDC166 +22 more	Copy number gain	not specified	GUncertain significance
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815178	GRCh37/hg19 8q24.3(chr8:144754114-144857373)x1	ZNF707, MAPK15 +2 more	Copy number loss	not provided	GLikely benign
Select item 815175	GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	ADGRB1, ARC +37 more	Copy number loss	not provided	GPathogenic
Select item 815173	GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	ADGRB1, ARC +62 more	Copy number loss	not provided	GPathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441954	GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3	ADCK5, ARHGAP39 +50 more	Copy number gain	See cases	GUncertain significance
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic

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