ClinVar for Gene (Select 79959) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266267	NM_024899.4(CEP76):c.1656G>T (p.Gln552His)	CEP76, PSMG2 (Q477H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266266	NM_024899.4(CEP76):c.305A>G (p.Asp102Gly)	CEP76, PSMG2 (D102G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266265	NM_024899.4(CEP76):c.1157G>C (p.Ser386Thr)	CEP76, PSMG2 (S386T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266264	NM_024899.4(CEP76):c.1234A>G (p.Met412Val)	CEP76, PSMG2 (M412V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266263	NM_024899.4(CEP76):c.553A>G (p.Met185Val)	CEP76, PSMG2 (M110V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266262	NM_024899.4(CEP76):c.1706C>T (p.Thr569Ile)	CEP76, PSMG2 (T494I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143046	NM_024899.4(CEP76):c.893G>A (p.Arg298Gln)	CEP76, PSMG2 (R223Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143045	NM_024899.4(CEP76):c.679A>C (p.Ser227Arg)	CEP76, PSMG2 (S152R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143043	NM_024899.4(CEP76):c.443G>A (p.Arg148His)	CEP76, PSMG2 (R148H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143042	NM_024899.4(CEP76):c.272A>T (p.Asp91Val)	CEP76, PSMG2 (D91V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143041	NM_024899.4(CEP76):c.1406G>A (p.Cys469Tyr)	CEP76, PSMG2 (C469Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143040	NM_024899.4(CEP76):c.1031A>G (p.Asn344Ser)	CEP76, PSMG2 (N344S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063538	GRCh37/hg19 18p11.21(chr18:11200889-12792186)x3	AFG3L2, ANKRD62 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3060773	NM_024899.4(CEP76):c.515G>A (p.Ser172Asn)	CEP76, PSMG2 (S172N)	Single nucleotide variant (missense variant +2 more)	CEP76-related disorder	GBenign
Select item 3052591	NM_024899.4(CEP76):c.948A>T (p.Ile316=)	CEP76, PSMG2	Single nucleotide variant (synonymous variant +2 more)	CEP76-related disorder	GLikely benign
Select item 3050295	NM_024899.4(CEP76):c.607G>C (p.Gly203Arg)	CEP76, PSMG2 (G128R +1 more)	Single nucleotide variant (missense variant +2 more)	CEP76-related disorder	GBenign
Select item 3048600	NM_024899.4(CEP76):c.630A>C (p.Ser210=)	CEP76, PSMG2	Single nucleotide variant (synonymous variant +2 more)	CEP76-related disorder	GBenign
Select item 3040766	NM_024899.4(CEP76):c.934-10T>C	CEP76, PSMG2	Single nucleotide variant (intron variant)	CEP76-related disorder	GLikely benign
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2616276	NM_024899.4(CEP76):c.1595T>G (p.Leu532Arg)	CEP76, PSMG2 (L532R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600430	NM_024899.4(CEP76):c.1094C>T (p.Thr365Ile)	CEP76, PSMG2 (T290I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2568185	NM_024899.4(CEP76):c.530C>A (p.Thr177Asn)	CEP76, PSMG2 (T177N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556718	NM_024899.4(CEP76):c.181A>G (p.Ile61Val)	CEP76, PSMG2 (I61V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553971	NM_024899.4(CEP76):c.830C>T (p.Ala277Val)	CEP76, PSMG2 (A202V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493167	NM_024899.4(CEP76):c.11C>T (p.Pro4Leu)	CEP76, PSMG2 (P4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471043	NM_024899.4(CEP76):c.1328T>A (p.Val443Asp)	CEP76, PSMG2 (V368D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456589	NM_024899.4(CEP76):c.398G>A (p.Cys133Tyr)	CEP76, PSMG2 (C133Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2426533	NC_000018.9:g.(?_10454979)_(12725530_?)del	AFG3L2, ANKRD62 +14 more	Deletion	not provided	GUncertain significance
Select item 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 2391014	NM_024899.4(CEP76):c.109C>T (p.Arg37Trp)	CEP76, PSMG2 (R37W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369242	NM_024899.4(CEP76):c.71T>C (p.Val24Ala)	CEP76, PSMG2 (V24A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366866	NM_024899.4(CEP76):c.1727A>G (p.Asn576Ser)	CEP76, PSMG2 (N501S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350700	NM_024899.4(CEP76):c.23C>T (p.Ala8Val)	CEP76, PSMG2 (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337082	NM_024899.4(CEP76):c.756G>A (p.Met252Ile)	CEP76, PSMG2 (M177I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305379	NM_024899.4(CEP76):c.1483G>A (p.Ala495Thr)	CEP76, PSMG2 (A495T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268616	NM_024899.4(CEP76):c.542A>G (p.Asp181Gly)	CEP76, PSMG2 (D106G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249820	NM_024899.4(CEP76):c.232C>G (p.Gln78Glu)	CEP76, PSMG2 (Q78E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242656	NM_024899.4(CEP76):c.262A>G (p.Ile88Val)	CEP76, PSMG2 (I88V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2230938	NM_024899.4(CEP76):c.842G>A (p.Arg281Gln)	PSMG2, CEP76 (R281Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223232	NM_024899.4(CEP76):c.398G>T (p.Cys133Phe)	PSMG2, CEP76 (C133F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1807752	GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3	AFG3L2, ANKRD30B +22 more	Copy number gain	not provided	GUncertain significance
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	CHMP1B, CIDEA +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1077182	Single allele	AFG3L2, AKAIN1 +50 more	Deletion	Deletion of short arm of chromosome 18	GPathogenic
Select item 979519	GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1	MTCL1, CIDEA +36 more	Copy number loss	not provided	GPathogenic
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 599570	NM_024899.4(CEP76):c.985G>A (p.Ala329Thr)	CEP76, PSMG2 (A329T +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GUncertain significance
Select item 599569	NM_024899.4(CEP76):c.108A>G (p.Ile36Met)	CEP76, PSMG2 (I36M)	Single nucleotide variant (missense variant +2 more)	Short stature	GUncertain significance
Select item 599568	NM_024899.4(CEP76):c.1874G>A (p.Arg625His)	CEP76, PSMG2 (R625H +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564562	GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	LPIN2, SLC35G4 +55 more	Copy number gain	not provided	GPathogenic
Select item 564559	GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1	DLGAP1-AS2, SMCHD1 +54 more	Copy number loss	not provided	GPathogenic
Select item 503584	GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	GNAL, IMPA2 +65 more	Copy number loss	See cases	GPathogenic
Select item 446344	GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443983	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443982	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 443872	GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1	AFG3L2, ANKRD30B +28 more	Copy number loss	See cases	GUncertain significance
Select item 442789	GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 442720	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 441993	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395094	GRCh37/hg19 18p11.21(chr18:12691414-12794330)x3	CEP76, PSMG2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 more	Copy number gain	See cases	GPathogenic
Select item 253656	GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	ANKRD62, MC2R +63 more	Copy number loss	See cases	GPathogenic
Select item 253619	GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	NDUFV2, CETN1 +65 more	Copy number loss	See cases	GPathogenic
Select item 253449	GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4	POTEC, LRRC30 +65 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 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	LOC126862732, LOC126862733 +1643 more	Copy number gain	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	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic

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