RPUSD3[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 2354046	NM_173659.5(RPUSD3):c.1021C>T (p.Arg341Cys)	RPUSD3 (R326C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3315376	NM_173659.5(RPUSD3):c.920A>G (p.His307Arg)	RPUSD3 (H292R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482302	NM_173659.5(RPUSD3):c.892G>A (p.Ala298Thr)	RPUSD3 (A283T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508813	NM_173659.5(RPUSD3):c.865C>T (p.Arg289Cys)	RPUSD3 (R274C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244915	NM_173659.5(RPUSD3):c.863G>A (p.Arg288Lys)	RPUSD3 (R273K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276450	NM_173659.5(RPUSD3):c.814G>T (p.Ala272Ser)	RPUSD3 (A272S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156353	NM_173659.5(RPUSD3):c.796C>A (p.Gln266Lys)	RPUSD3 (Q251K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347146	NM_173659.5(RPUSD3):c.784A>G (p.Thr262Ala)	RPUSD3 (T262A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 225005	NM_173659.5(RPUSD3):c.724C>T (p.His242Tyr)	RPUSD3 (A251V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 3315377	NM_173659.5(RPUSD3):c.661G>A (p.Gly221Ser)	RPUSD3 (G197S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225035	NM_173659.5(RPUSD3):c.646C>T (p.Arg216Cys)	RPUSD3 (R192C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2212328	NM_173659.5(RPUSD3):c.626A>G (p.Lys209Arg)	RPUSD3 (K209R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556762	NM_173659.5(RPUSD3):c.434G>A (p.Arg145His)	RPUSD3 (R130H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257284	NM_173659.5(RPUSD3):c.371G>T (p.Arg124Leu)	RPUSD3 (R100L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271147	NM_173659.5(RPUSD3):c.320C>T (p.Pro107Leu)	RPUSD3 (P107L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315375	NM_173659.5(RPUSD3):c.313G>C (p.Val105Leu)	RPUSD3 (V105L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156351	NM_173659.5(RPUSD3):c.302C>T (p.Thr101Met)	RPUSD3 (T101M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473430	NM_173659.5(RPUSD3):c.251C>T (p.Thr84Met)	RPUSD3 (T60M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156350	NM_173659.5(RPUSD3):c.235A>G (p.Lys79Glu)	RPUSD3 (K55E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315374	NM_173659.5(RPUSD3):c.62G>A (p.Arg21His)	LOC129936139, RPUSD3 (R21H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517728	NM_173659.5(RPUSD3):c.59T>A (p.Val20Asp)	LOC129936139, RPUSD3 (V20D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287632	NM_173659.5(RPUSD3):c.46C>G (p.Arg16Gly)	LOC129936139, RPUSD3 (R16G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512134	NM_173659.5(RPUSD3):c.40T>C (p.Trp14Arg)	RPUSD3 (W14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464807	NM_173659.5(RPUSD3):c.34A>G (p.Ser12Gly)	RPUSD3 (S12G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2607043	NM_173659.5(RPUSD3):c.23G>T (p.Gly8Val)	RPUSD3 (G8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339508	NM_173659.5(RPUSD3):c.6C>G (p.Asp2Glu)	RPUSD3 (D2E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	GHRLOS, IL17RC +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	ARPC4, ARPC4-TTLL3 +20 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1328451	GRCh37/hg19 3p25.3(chr3:9501646-9991928)x4	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 980632	GRCh37/hg19 3p25.3(chr3:9870413-9930906)x1	CIDEC, ARPC4-TTLL3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 830761	NC_000003.12:g.(?_9701780)_(9944589_?)dup	ARPC4, ARPC4-TTLL3 +13 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 688108	GRCh37/hg19 3p25.3(chr3:8883205-9954034)x3	ARPC4, ARPC4-TTLL3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 635955	Single allele	BRPF1, IL17RE +33 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 443508	GRCh37/hg19 3p25.3(chr3:9600759-10000398)x3	ARPC4, ARPC4-TTLL3 +14 more	Copy number gain	See cases	GLikely benign
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 395270	GRCh37/hg19 3p25.3(chr3:9666380-10028247)x1	ARPC4, ARPC4-TTLL3 +15 more	Copy number loss	See cases	GPathogenic
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic
Select item 253334	GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3	MTMR14, IL17RC +21 more	Copy number gain	See cases	GLikely pathogenic

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Items: 85