RAD18[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
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 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 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 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	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 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	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 144395	GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3	CAV3, GRM7 +25 more	Copy number gain	See cases	GUncertain significance
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 57696	GRCh38/hg38 3p26.1-25.3(chr3:7975734-9038133)x3	CAV3, LINC00312 +23 more	Copy number gain	See cases	GUncertain significance
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 151834	GRCh38/hg38 3p25.3(chr3:8320124-9395968)x1	CAV3, LINC00312 +36 more	Copy number loss	See cases	GPathogenic
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 2510583	NM_020165.4(RAD18):c.1441G>A (p.Ala481Thr)	RAD18 (A481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213163	NM_020165.4(RAD18):c.1280T>C (p.Ile427Thr)	RAD18 (I427T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536554	NM_020165.4(RAD18):c.1265C>G (p.Ser422Cys)	RAD18 (S422C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283700	NM_020165.4(RAD18):c.1229C>T (p.Pro410Leu)	RAD18 (P410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151001	NM_020165.4(RAD18):c.1139C>G (p.Ser380Cys)	RAD18 (S380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390620	NM_020165.4(RAD18):c.1133A>T (p.Asp378Val)	RAD18 (D378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511377	NM_020165.4(RAD18):c.1093G>T (p.Ala365Ser)	RAD18 (A365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206450	NM_020165.4(RAD18):c.1072A>G (p.Arg358Gly)	RAD18 (R358G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151007	NM_020165.4(RAD18):c.940C>G (p.Leu314Val)	RAD18 (L314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229304	NM_020165.4(RAD18):c.833A>T (p.His278Leu)	RAD18 (H278L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221761	NM_020165.4(RAD18):c.761G>A (p.Arg254His)	RAD18 (R254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653468	NM_020165.4(RAD18):c.725C>T (p.Pro242Leu)	RAD18 (P242L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3151006	NM_020165.4(RAD18):c.676C>T (p.Arg226Cys)	RAD18 (R226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151005	NM_020165.4(RAD18):c.622G>A (p.Gly208Arg)	RAD18 (G208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354255	NM_020165.4(RAD18):c.572C>T (p.Pro191Leu)	RAD18 (P191L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2356300	NM_020165.4(RAD18):c.518G>A (p.Arg173His)	RAD18 (R173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151004	NM_020165.4(RAD18):c.488C>T (p.Ala163Val)	RAD18 (A163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257072	NM_020165.4(RAD18):c.476C>T (p.Pro159Leu)	RAD18 (P159L)	Single nucleotide variant (missense variant)	not specified	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 3151003	NM_020165.4(RAD18):c.431C>T (p.Ser144Phe)	RAD18 (S144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289462	NM_020165.4(RAD18):c.393G>T (p.Arg131Ser)	RAD18 (R131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315884	NM_020165.4(RAD18):c.392G>C (p.Arg131Thr)	RAD18 (R131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312692	NM_020165.4(RAD18):c.347T>G (p.Val116Gly)	RAD18 (V116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402028	NM_020165.4(RAD18):c.151A>G (p.Arg51Gly)	RAD18 (R51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519032	NM_020165.4(RAD18):c.146G>C (p.Cys49Ser)	RAD18 (C49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552658	NM_020165.4(RAD18):c.118C>A (p.Gln40Lys)	RAD18 (Q40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330396	NM_020165.4(RAD18):c.115C>A (p.Pro39Thr)	RAD18 (P39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483248	NM_020165.4(RAD18):c.79A>G (p.Ile27Val)	RAD18 (I27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062668	GRCh37/hg19 3p26.1-25.3(chr3:8405045-9014878)x1	CAV3, LINC00312 +4 more	Copy number loss	not specified	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 2423657	NC_000003.11:g.(?_6903076)_(9517775_?)del	CAV3, GRM7 +8 more	Deletion	not provided	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 1808087	GRCh37/hg19 3p26.1-25.3(chr3:8394537-9014878)x1	CAV3, LINC00312 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 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 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1706499	GRCh37/hg19 3p26.1-25.3(chr3:7694117-9546173)x1	SRGAP3, SSUH2 +9 more	Copy number loss	See cases	GPathogenic
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 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1412633	NC_000003.11:g.(?_8775563)_(9986075_?)dup	MTMR14, OGG1 +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 980631	GRCh37/hg19 3p25.3(chr3:8745819-9043663)x3	RAD18, CAV3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 832860	NC_000003.11:g.(?_8775553)_(9730776_?)dup	MTMR14, CAV3 +6 more	Duplication	Long QT syndrome	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 814421	GRCh37/hg19 3p26.1-25.3(chr3:7172720-9545741)x3	THUMPD3, GRM7 +9 more	Copy number gain	not provided	GUncertain significance
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 635936	Single allele	ARL8B, BHLHE40 +20 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562751	GRCh37/hg19 3p25.3(chr3:8956417-9127443)x1	RAD18, SRGAP3	Copy number loss	not provided	GUncertain significance
Select item 562750	GRCh37/hg19 3p25.3(chr3:8716167-9005190)x1	RAD18, OXTR +1 more	Copy number loss	not provided	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 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442562	GRCh37/hg19 3p26.1-25.3(chr3:7349315-9047066)x3	CAV3, GRM7 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +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 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	See cases	GPathogenic

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Items: 91