CEP68[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60180	GRCh38/hg38 2p15-14(chr2:63311999-67309291)x1	ACTR2, AFTPH +173 more	Copy number loss	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 3142984	NM_015147.3(CEP68):c.10G>T (p.Gly4Cys)	CEP68 (G4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535235	NM_015147.3(CEP68):c.38C>G (p.Ser13Cys)	CEP68 (S13C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143008	NM_015147.3(CEP68):c.56A>T (p.Gln19Leu)	CEP68 (Q19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143010	NM_015147.3(CEP68):c.59C>T (p.Ser20Phe)	CEP68 (S20F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142987	NM_015147.3(CEP68):c.122A>G (p.Gln41Arg)	CEP68 (Q41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142992	NM_015147.3(CEP68):c.130C>T (p.Arg44Cys)	CEP68 (R44C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386238	NM_015147.3(CEP68):c.131G>T (p.Arg44Leu)	CEP68 (R44L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142996	NM_015147.3(CEP68):c.154A>G (p.Ile52Val)	CEP68 (I52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370200	NM_015147.3(CEP68):c.157T>G (p.Ser53Ala)	CEP68 (S53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412071	NM_015147.3(CEP68):c.224C>T (p.Pro75Leu)	CEP68 (P75L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2488576	NM_015147.3(CEP68):c.265G>C (p.Glu89Gln)	CEP68 (E89Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268690	NM_015147.3(CEP68):c.265G>A (p.Glu89Lys)	CEP68 (E89K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143004	NM_015147.3(CEP68):c.299G>C (p.Ser100Thr)	CEP68 (S100T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143005	NM_015147.3(CEP68):c.302G>T (p.Gly101Val)	CEP68 (G101V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473782	NM_015147.3(CEP68):c.344C>A (p.Ser115Tyr)	CEP68 (S115Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384025	NM_015147.3(CEP68):c.346G>A (p.Gly116Arg)	CEP68 (G116R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143006	NM_015147.3(CEP68):c.365A>C (p.Lys122Thr)	CEP68 (K122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361031	NM_015147.3(CEP68):c.385G>A (p.Glu129Lys)	CEP68 (E129K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143007	NM_015147.3(CEP68):c.518C>T (p.Ser173Leu)	CEP68 (S173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143009	NM_015147.3(CEP68):c.590G>A (p.Ser197Asn)	CEP68 (S197N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390315	NM_015147.3(CEP68):c.596C>T (p.Ser199Phe)	CEP68 (S199F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143011	NM_015147.3(CEP68):c.602C>G (p.Ser201Cys)	CEP68 (S201C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397482	NM_015147.3(CEP68):c.641C>T (p.Ala214Val)	CEP68 (A214V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781681	NM_015147.3(CEP68):c.650G>A (p.Arg217His)	CEP68 (R217H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 799756	NM_015147.3(CEP68):c.693C>T (p.Val231=)	CEP68	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2521871	NM_015147.3(CEP68):c.790A>G (p.Arg264Gly)	CEP68 (R264G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323482	NM_015147.3(CEP68):c.845T>C (p.Leu282Pro)	CEP68 (L282P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300547	NM_015147.3(CEP68):c.865C>G (p.His289Asp)	CEP68 (H289D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320065	NM_015147.3(CEP68):c.887A>G (p.Asn296Ser)	CEP68 (N296S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258065	NM_015147.3(CEP68):c.922C>G (p.Pro308Ala)	CEP68 (P308A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143013	NM_015147.3(CEP68):c.954C>A (p.His318Gln)	CEP68 (H318Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2456850	NM_015147.3(CEP68):c.956T>C (p.Leu319Pro)	CEP68 (L319P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340867	NM_015147.3(CEP68):c.958G>A (p.Asp320Asn)	CEP68 (D320N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280116	NM_015147.3(CEP68):c.962G>A (p.Ser321Asn)	CEP68 (S321N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325897	NM_015147.3(CEP68):c.964C>T (p.Arg322Cys)	CEP68 (R322C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210672	NM_015147.3(CEP68):c.974C>T (p.Ala325Val)	CEP68 (A325V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142983	NM_015147.3(CEP68):c.1069T>C (p.Cys357Arg)	CEP68 (C357R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788725	NM_015147.3(CEP68):c.1100T>A (p.Phe367Tyr)	CEP68 (F367Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3142985	NM_015147.3(CEP68):c.1135C>A (p.Pro379Thr)	CEP68 (P379T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142986	NM_015147.3(CEP68):c.1202C>T (p.Pro401Leu)	CEP68 (P401L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341047	NM_015147.3(CEP68):c.1222G>A (p.Asp408Asn)	CEP68 (D408N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651007	NM_015147.3(CEP68):c.1230T>C (p.Arg410=)	CEP68	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3142988	NM_015147.3(CEP68):c.1237C>T (p.Arg413Cys)	CEP68 (R413C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397176	NM_015147.3(CEP68):c.1238G>A (p.Arg413His)	CEP68 (R413H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142989	NM_015147.3(CEP68):c.1270C>T (p.Arg424Trp)	CEP68 (R424W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3142990	NM_015147.3(CEP68):c.1271G>A (p.Arg424Gln)	CEP68 (R424Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348181	NM_015147.3(CEP68):c.1304C>G (p.Ser435Cys)	CEP68 (S435C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142991	NM_015147.3(CEP68):c.1306C>T (p.Pro436Ser)	CEP68 (P436S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142993	NM_015147.3(CEP68):c.1322G>A (p.Arg441Gln)	CEP68 (R441Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 784985	NM_015147.3(CEP68):c.1341G>A (p.Ser447=)	CEP68	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2472533	NM_015147.3(CEP68):c.1418A>T (p.Glu473Val)	CEP68 (E473V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268278	NM_015147.3(CEP68):c.1421A>G (p.Glu474Gly)	CEP68 (E474G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142994	NM_015147.3(CEP68):c.1459G>A (p.Ala487Thr)	CEP68 (A487T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2256548	NM_015147.3(CEP68):c.1459G>C (p.Ala487Pro)	CEP68 (A487P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615619	NM_015147.3(CEP68):c.1507T>A (p.Ser503Thr)	CEP68 (S503T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142995	NM_015147.3(CEP68):c.1542A>C (p.Lys514Asn)	CEP68 (K514N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469171	NM_015147.3(CEP68):c.1572T>G (p.Ser524Arg)	CEP68 (S524R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609588	NM_015147.3(CEP68):c.1588T>C (p.Phe530Leu)	CEP68 (F530L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2303918	NM_015147.3(CEP68):c.1619C>G (p.Pro540Arg)	CEP68 (P540R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254058	NM_015147.3(CEP68):c.1660C>A (p.Gln554Lys)	CEP68 (Q554K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 708967	NM_015147.3(CEP68):c.1698C>T (p.His566=)	CEP68	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 741945	NM_015147.3(CEP68):c.1734G>A (p.Gln578=)	CEP68	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2455385	NM_015147.3(CEP68):c.1741G>A (p.Gly581Arg)	CEP68 (G581R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589376	NM_015147.3(CEP68):c.1742G>T (p.Gly581Val)	CEP68 (G581V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142997	NM_015147.3(CEP68):c.1748C>T (p.Ser583Phe)	CEP68 (S583F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 720663	NM_015147.3(CEP68):c.1758G>A (p.Leu586=)	CEP68	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2369121	NM_015147.3(CEP68):c.1774T>G (p.Ser592Ala)	CEP68 (S592A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458873	NM_015147.3(CEP68):c.1795C>T (p.Arg599Trp)	CEP68 (R599W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350568	NM_015147.3(CEP68):c.1796G>A (p.Arg599Gln)	CEP68 (R599Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370508	NM_015147.3(CEP68):c.1805T>G (p.Phe602Cys)	CEP68 (F602C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 791855	NM_015147.3(CEP68):c.1820T>C (p.Val607Ala)	CEP68 (V607A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3142998	NM_015147.3(CEP68):c.1822G>A (p.Glu608Lys)	CEP68 (E608K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 778817	NM_015147.3(CEP68):c.1844GAG[1] (p.Gly616del)	CEP68 (G616del)	Microsatellite (inframe_deletion +2 more)	not provided	GBenign
Select item 2651008	NM_015147.3(CEP68):c.1884+21G>A	CEP68	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2342974	NM_015147.3(CEP68):c.1925A>G (p.Tyr642Cys)	CEP68 (Y642C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142999	NM_015147.3(CEP68):c.1970A>G (p.Asn657Ser)	CEP68 (N520S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 778818	NM_015147.3(CEP68):c.2007+9C>G	CEP68	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2235355	NM_015147.3(CEP68):c.2097C>G (p.Asn699Lys)	CEP68 (N699K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143000	NM_015147.3(CEP68):c.2141C>G (p.Ser714Cys)	CEP68 (S714C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143001	NM_015147.3(CEP68):c.2161G>A (p.Ala721Thr)	CEP68 (A584T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143002	NM_015147.3(CEP68):c.2168G>A (p.Arg723His)	CEP68 (R723H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3143003	NM_015147.3(CEP68):c.2188G>A (p.Ala730Thr)	CEP68 (A730T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331600	NM_015147.3(CEP68):c.2245G>T (p.Ala749Ser)	CEP68 (A612S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 1808941	GRCh37/hg19 2p14(chr2:65110275-65556249)x1	ACTR2, CEP68 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 687379	GRCh37/hg19 2p15-14(chr2:63536353-65793944)x1	ACTR2, AFTPH +11 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443366	GRCh37/hg19 2p15-14(chr2:61701437-65731084)x1	ACTR2, AFTPH +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 443261	GRCh37/hg19 2p15-14(chr2:63234780-67908846)x1	ACTR2, AFTPH +16 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 98