ClinVar for Gene (Select 11086) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148912	GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3	ADAM29, AGA +17 more	Copy number gain	not provided	GPathogenic
Select item 3145433	NM_014269.4(ADAM29):c.932G>A (p.Arg311His)	ADAM29 (R311H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145427	NM_014269.4(ADAM29):c.628C>G (p.Leu210Val)	ADAM29 (L210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145425	NM_014269.4(ADAM29):c.310G>C (p.Gly104Arg)	ADAM29 (G104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145420	NM_014269.4(ADAM29):c.2411G>C (p.Arg804Thr)	ADAM29 (R804T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145416	NM_014269.4(ADAM29):c.2270C>T (p.Ser757Phe)	ADAM29 (S757F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145413	NM_014269.4(ADAM29):c.2207T>C (p.Val736Ala)	ADAM29 (V736A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145411	NM_014269.4(ADAM29):c.2200C>A (p.Pro734Thr)	ADAM29 (P734T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145408	NM_014269.4(ADAM29):c.2180A>G (p.Glu727Gly)	ADAM29 (E727G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145403	NM_014269.4(ADAM29):c.2168G>A (p.Arg723His)	ADAM29 (R723H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145395	NM_014269.4(ADAM29):c.2113A>G (p.Lys705Glu)	ADAM29 (K705E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145384	NM_014269.4(ADAM29):c.1922A>T (p.His641Leu)	ADAM29 (H641L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145368	NM_014269.4(ADAM29):c.152G>C (p.Trp51Ser)	ADAM29 (W51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145360	NM_014269.4(ADAM29):c.1310G>A (p.Cys437Tyr)	ADAM29 (C437Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024884	NM_014269.4(ADAM29):c.2241T>C (p.Pro747=)	ADAM29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	ADAM29, AGA +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2655196	NM_014269.4(ADAM29):c.2454G>A (p.Thr818=)	ADAM29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655195	NM_014269.4(ADAM29):c.2325T>C (p.Ser775=)	ADAM29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655194	NM_014269.4(ADAM29):c.2304T>C (p.Ser768=)	ADAM29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655193	NM_014269.4(ADAM29):c.2295C>T (p.Pro765=)	ADAM29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655192	NM_014269.4(ADAM29):c.2292A>G (p.Thr764=)	ADAM29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655191	NM_014269.4(ADAM29):c.2271C>T (p.Ser757=)	ADAM29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592345	NM_014269.4(ADAM29):c.1588C>T (p.Arg530Cys)	ADAM29 (R530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590199	NM_014269.4(ADAM29):c.2307A>T (p.Gln769His)	ADAM29 (Q769H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558866	NM_014269.4(ADAM29):c.2167C>T (p.Arg723Cys)	ADAM29 (R723C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554368	NM_014269.4(ADAM29):c.941C>A (p.Ala314Glu)	ADAM29 (A314E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553747	NM_014269.4(ADAM29):c.182A>G (p.Gln61Arg)	ADAM29 (Q61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552588	NM_014269.4(ADAM29):c.983T>C (p.Ile328Thr)	ADAM29 (I328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537866	NM_014269.4(ADAM29):c.2273A>G (p.Gln758Arg)	ADAM29 (Q758R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519979	NM_014269.4(ADAM29):c.1502G>A (p.Arg501His)	ADAM29 (R501H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484805	NM_014269.4(ADAM29):c.1956C>A (p.Asn652Lys)	ADAM29 (N652K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472249	NM_014269.4(ADAM29):c.2426T>G (p.Met809Arg)	ADAM29 (M755R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471390	NM_014269.4(ADAM29):c.205G>A (p.Val69Ile)	ADAM29 (V69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398053	NM_014269.4(ADAM29):c.1937A>T (p.Tyr646Phe)	ADAM29 (Y646F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392907	NM_014269.4(ADAM29):c.1540A>G (p.Asn514Asp)	ADAM29 (N514D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386766	NM_014269.4(ADAM29):c.467A>G (p.Glu156Gly)	ADAM29 (E156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381602	NM_014269.4(ADAM29):c.116T>C (p.Ile39Thr)	ADAM29 (I39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366569	NM_014269.4(ADAM29):c.7A>G (p.Met3Val)	ADAM29 (M3V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360030	NM_014269.4(ADAM29):c.833C>T (p.Thr278Met)	ADAM29 (T278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346834	NM_014269.4(ADAM29):c.193A>T (p.Ile65Phe)	ADAM29 (I65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333365	NM_014269.4(ADAM29):c.463G>A (p.Glu155Lys)	ADAM29 (E155K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298369	NM_014269.4(ADAM29):c.799C>T (p.His267Tyr)	ADAM29 (H267Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289375	NM_014269.4(ADAM29):c.2179G>A (p.Glu727Lys)	ADAM29 (E727K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280222	NM_014269.4(ADAM29):c.2042T>C (p.Ile681Thr)	ADAM29 (I681T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269150	NM_014269.4(ADAM29):c.1893C>A (p.Asn631Lys)	ADAM29 (N631K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255808	NM_014269.4(ADAM29):c.1109G>A (p.Ser370Asn)	ADAM29 (S370N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245599	NM_014269.4(ADAM29):c.1910A>T (p.Asn637Ile)	ADAM29 (N637I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238083	NM_014269.4(ADAM29):c.124A>G (p.Thr42Ala)	ADAM29 (T42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233968	NM_014269.4(ADAM29):c.133G>A (p.Gly45Ser)	ADAM29 (G45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227476	NM_014269.4(ADAM29):c.2449G>C (p.Val817Leu)	ADAM29 (V817L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224857	NM_014269.4(ADAM29):c.845A>C (p.Gln282Pro)	ADAM29 (Q282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527138	GRCh37/hg19 4q34.1(chr4:175622804-175877725)	ADAM29, GLRA3	Copy number gain	not specified	GUncertain significance
Select item 1527136	GRCh37/hg19 4q34.1-34.2(chr4:175569106-176634198)	ADAM29, GLRA3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1340231	GRCh37/hg19 4q34.1(chr4:175721874-176295240)x3	ADAM29, GLRA3	Copy number gain	not provided	GUncertain significance
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	CLDN22, GLRA3 +35 more	Copy number loss	See cases	GPathogenic
Select item 814633	GRCh37/hg19 4q34.1(chr4:175624313-175969985)x3	GLRA3, ADAM29	Copy number gain	not provided	GUncertain significance
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	AADAT, ACSL1 +79 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AGA, ANKRD37 +65 more	Copy number gain	not provided	GPathogenic
Select item 685559	GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3	AADAT, ADAM29 +36 more	Copy number gain	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 635933	Single allele	ADAM29, AGA +17 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	ACSL1, ADAM29 +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	ACSL1, ADAM29 +54 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 563002	GRCh37/hg19 4q34.1-34.2(chr4:175568901-176634198)x4	GLRA3, GPM6A +1 more	Copy number gain	not provided	GUncertain significance
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	CFAP96, CFAP97 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	FNIP2, MSMO1 +60 more	Copy number gain	not provided	GPathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443403	GRCh37/hg19 4q34.1-34.2(chr4:173907396-176305880)x4	ADAM29, CEP44 +9 more	Copy number gain	See cases	GUncertain significance
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443309	GRCh37/hg19 4q34.1(chr4:174478959-175855409)x1	ADAM29, CEP44 +3 more	Copy number loss	See cases	GUncertain significance
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441736	GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1	PALLD, VEGFC +46 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	TLL1, HAND2 +40 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC129993510, LOC129993511 +383 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	PRIMPOL, RWDD4 +372 more	Copy number loss	See cases	GPathogenic

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