CEP192[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 147418	GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3	AFG3L2, ANKRD62 +137 more	Copy number gain	See cases	GPathogenic
Select item 2389413	NM_032142.4(CEP192):c.110G>T (p.Gly37Val)	CEP192 (G37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351881	NM_032142.4(CEP192):c.197A>G (p.Glu66Gly)	CEP192 (E66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142714	NM_032142.4(CEP192):c.214C>G (p.Pro72Ala)	CEP192 (P72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769934	NM_032142.4(CEP192):c.333G>C (p.Leu111Phe)	CEP192 (L111F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2522379	NM_032142.4(CEP192):c.337A>G (p.Asn113Asp)	CEP192 (N113D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226736	NM_032142.4(CEP192):c.401G>A (p.Gly134Glu)	CEP192 (G134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142743	NM_032142.4(CEP192):c.575T>G (p.Leu192Arg)	CEP192 (L192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648604	NM_032142.4(CEP192):c.582C>G (p.His194Gln)	CEP192 (H194Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2483830	NM_032142.4(CEP192):c.668A>C (p.Tyr223Ser)	CEP192 (Y223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347762	NM_032142.4(CEP192):c.721T>C (p.Tyr241His)	CEP192 (Y241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356428	NM_032142.4(CEP192):c.740C>T (p.Pro247Leu)	CEP192 (P247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621040	NM_032142.4(CEP192):c.772A>G (p.Thr258Ala)	CEP192 (T258A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233409	NM_032142.4(CEP192):c.869C>T (p.Ser290Phe)	CEP192 (S290F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323805	NM_032142.4(CEP192):c.971T>C (p.Met324Thr)	CEP192 (M324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312270	NM_032142.4(CEP192):c.1055G>T (p.Cys352Phe)	CEP192 (C352F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142708	NM_032142.4(CEP192):c.1069G>A (p.Val357Ile)	CEP192 (V357I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142709	NM_032142.4(CEP192):c.1124A>G (p.His375Arg)	CEP192 (H375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206377	NM_032142.4(CEP192):c.1139A>G (p.Asn380Ser)	CEP192 (N380S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142710	NM_032142.4(CEP192):c.1306A>T (p.Ile436Phe)	CEP192 (I436F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142711	NM_032142.4(CEP192):c.1336A>G (p.Thr446Ala)	CEP192 (T446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268888	NM_032142.4(CEP192):c.1429G>A (p.Glu477Lys)	CEP192 (E477K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524675	NM_032142.4(CEP192):c.1459T>C (p.Tyr487His)	CEP192 (Y487H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327337	NM_032142.4(CEP192):c.1488A>T (p.Leu496Phe)	CEP192 (L496F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604961	NM_032142.4(CEP192):c.1556C>T (p.Ala519Val)	CEP192 (A519V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142712	NM_032142.4(CEP192):c.1646C>T (p.Thr549Met)	CEP192 (T549M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142713	NM_032142.4(CEP192):c.1660A>G (p.Thr554Ala)	CEP192 (T554A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359887	NM_032142.4(CEP192):c.1727A>G (p.Tyr576Cys)	CEP192 (Y576C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298472	NM_032142.4(CEP192):c.1750T>C (p.Phe584Leu)	CEP192 (F584L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775463	NM_032142.4(CEP192):c.1839A>G (p.Pro613=)	CEP192	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474255	NM_032142.4(CEP192):c.1913A>G (p.His638Arg)	CEP192 (H638R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259383	NM_032142.4(CEP192):c.2053A>G (p.Lys685Glu)	CEP192 (K685E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298999	NM_032142.4(CEP192):c.2062A>G (p.Thr688Ala)	CEP192 (T688A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142715	NM_032142.4(CEP192):c.2281C>G (p.His761Asp)	CEP192 (H761D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524052	NM_032142.4(CEP192):c.2312A>T (p.Glu771Val)	CEP192 (E771V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411740	NM_032142.4(CEP192):c.2324G>A (p.Gly775Glu)	CEP192 (G775E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271836	NM_032142.4(CEP192):c.2351A>G (p.Tyr784Cys)	CEP192 (Y784C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142716	NM_032142.4(CEP192):c.2410A>G (p.Ser804Gly)	CEP192 (S804G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508279	NM_032142.4(CEP192):c.2471C>T (p.Pro824Leu)	CEP192 (P824L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223987	NM_032142.4(CEP192):c.2474T>C (p.Val825Ala)	CEP192 (V825A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411741	NM_032142.4(CEP192):c.2494G>A (p.Val832Ile)	CEP192 (V832I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142717	NM_032142.4(CEP192):c.2515G>A (p.Glu839Lys)	CEP192 (E839K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303154	NM_032142.4(CEP192):c.2515G>C (p.Glu839Gln)	CEP192 (E839Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142718	NM_032142.4(CEP192):c.2575A>G (p.Arg859Gly)	CEP192 (R859G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254658	NM_032142.4(CEP192):c.2627T>G (p.Val876Gly)	CEP192 (V876G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142719	NM_032142.4(CEP192):c.2650A>G (p.Ile884Val)	CEP192 (I884V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142720	NM_032142.4(CEP192):c.2677A>G (p.Asn893Asp)	CEP192 (N893D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317185	NM_032142.4(CEP192):c.2689G>A (p.Ala897Thr)	CEP192 (A897T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142721	NM_032142.4(CEP192):c.2775A>T (p.Glu925Asp)	CEP192 (E925D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312968	NM_032142.4(CEP192):c.2866C>T (p.Arg956Cys)	CEP192 (R956C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142723	NM_032142.4(CEP192):c.2923C>T (p.Arg975Cys)	CEP192 (R975C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609901	NM_032142.4(CEP192):c.2968C>G (p.Pro990Ala)	CEP192 (P990A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460802	NM_032142.4(CEP192):c.3116G>C (p.Arg1039Thr)	CEP192 (R1039T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718301	NM_032142.4(CEP192):c.3157A>G (p.Thr1053Ala)	CEP192 (T1053A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2283541	NM_032142.4(CEP192):c.3183C>A (p.Asp1061Glu)	CEP192 (D1061E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276558	NM_032142.4(CEP192):c.3197T>A (p.Ile1066Asn)	CEP192 (I1066N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285104	NM_032142.4(CEP192):c.3205G>A (p.Glu1069Lys)	CEP192 (E1069K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284693	NM_032142.4(CEP192):c.3220A>G (p.Ile1074Val)	CEP192 (I1074V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560279	NM_032142.4(CEP192):c.3256G>A (p.Ala1086Thr)	CEP192 (A1086T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142724	NM_032142.4(CEP192):c.3269T>G (p.Leu1090Trp)	CEP192 (L1090W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142725	NM_032142.4(CEP192):c.3394C>T (p.Pro1132Ser)	CEP192 (P1132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267630	NM_032142.4(CEP192):c.3410G>A (p.Ser1137Asn)	CEP192 (S1137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775464	NM_032142.4(CEP192):c.3476C>G (p.Pro1159Arg)	CEP192 (P1159R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2531171	NM_032142.4(CEP192):c.3547A>G (p.Thr1183Ala)	CEP192 (T1183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284920	NM_032142.4(CEP192):c.3590A>G (p.Gln1197Arg)	CEP192 (Q1197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142726	NM_032142.4(CEP192):c.3680C>T (p.Pro1227Leu)	CEP192 (P1227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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