ClinVar for Gene (Select 55534) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122430	NM_018717.5(MAML3):c.479C>T (p.Thr160Ile)	MAML3 (T160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122429	NM_018717.5(MAML3):c.331G>T (p.Val111Leu)	MAML3 (V111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122428	NM_018717.5(MAML3):c.1669A>G (p.Met557Val)	MAML3 (M557V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122427	NM_018717.5(MAML3):c.1444A>G (p.Met482Val)	MAML3 (M21V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122426	NM_018717.5(MAML3):c.1325C>T (p.Pro442Leu)	MAML3 (P442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122425	NM_018717.5(MAML3):c.1271C>G (p.Ala424Gly)	MAML3 (A424G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122424	NM_018717.5(MAML3):c.1171G>A (p.Ala391Thr)	MAML3 (A391T)	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 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062765	GRCh37/hg19 4q31.1(chr4:140930352-141499318)x3	CLGN, ELMOD2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2606301	NM_018717.5(MAML3):c.578G>T (p.Arg193Leu)	MAML3 (R193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528912	NM_018717.5(MAML3):c.853A>G (p.Ile285Val)	MAML3 (I285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491753	NM_018717.5(MAML3):c.1556C>T (p.Ser519Phe)	MAML3 (S47F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466756	NM_018717.5(MAML3):c.1204G>A (p.Ala402Thr)	MAML3 (A402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406084	NM_018717.5(MAML3):c.278A>C (p.Asn93Thr)	MAML3 (N93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404197	NM_018717.5(MAML3):c.1139C>T (p.Ser380Phe)	MAML3 (S380F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400472	NM_018717.5(MAML3):c.481G>A (p.Val161Met)	MAML3 (V161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400066	NM_018717.5(MAML3):c.764C>A (p.Pro255His)	MAML3 (P255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394776	NM_018717.5(MAML3):c.1698G>A (p.Met566Ile)	MAML3 (M94I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378357	NM_018717.5(MAML3):c.1279C>T (p.Pro427Ser)	MAML3 (P427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325871	NM_018717.5(MAML3):c.1991G>A (p.Ser664Asn)	MAML3 (S192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281556	NM_018717.5(MAML3):c.353T>C (p.Leu118Pro)	MAML3 (L118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272981	NM_018717.5(MAML3):c.3234C>G (p.Ser1078Arg)	MAML3, MGST2 (S1078R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269553	NM_018717.5(MAML3):c.551A>C (p.Asn184Thr)	MAML3 (N184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219513	NM_018717.5(MAML3):c.1298G>A (p.Arg433Gln)	MAML3 (R433Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527127	GRCh37/hg19 4q31.1(chr4:140756540-141056104)	MAML3	Copy number loss	not specified	GUncertain significance
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340411	GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1	CLGN, ELF2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 814609	GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1	MGAT4D, SETD7 +14 more	Copy number loss	not provided	GPathogenic
Select item 770352	NM_018717.5(MAML3):c.1470GCA[20] (p.Gln510dup)	MAML3	Microsatellite (inframe_insertion)	not provided	GBenign
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 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 562970	GRCh37/hg19 4q31.1(chr4:140924159-141492943)x3	UCP1, MAML3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	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 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	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 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	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 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57