ClinVar for Gene (Select 51592) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328707	NM_015906.4(TRIM33):c.782A>G (p.Asp261Gly)	TRIM33 (D261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328706	NM_015906.4(TRIM33):c.3358G>A (p.Asp1120Asn)	TRIM33 (D1120N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328705	NM_015906.4(TRIM33):c.2966C>T (p.Ser989Leu)	TRIM33 (S989L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328704	NM_015906.4(TRIM33):c.202G>T (p.Ala68Ser)	LOC129931243, TRIM33 (A68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328703	NM_015906.4(TRIM33):c.3275T>A (p.Phe1092Tyr)	TRIM33 (F1092Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328702	NM_015906.4(TRIM33):c.320C>A (p.Pro107Gln)	LOC129931243, TRIM33 (P107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	NRAS, OLFML3 +12 more	Deletion	RASopathy	GUncertain significance
Select item 3182388	NM_015906.4(TRIM33):c.503G>T (p.Gly168Val)	TRIM33 (G168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182387	NM_015906.4(TRIM33):c.479A>G (p.Gln160Arg)	TRIM33 (Q160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182386	NM_015906.4(TRIM33):c.3347G>A (p.Arg1116His)	TRIM33 (R1099H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182385	NM_015906.4(TRIM33):c.319C>T (p.Pro107Ser)	LOC129931243, TRIM33 (P107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182384	NM_015906.4(TRIM33):c.317C>G (p.Ala106Gly)	LOC129931243, TRIM33 (A106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182383	NM_015906.4(TRIM33):c.233C>T (p.Ala78Val)	LOC129931243, TRIM33 (A78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182382	NM_015906.4(TRIM33):c.1921A>G (p.Asn641Asp)	TRIM33 (N641D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182381	NM_015906.4(TRIM33):c.1910A>C (p.Asn637Thr)	TRIM33 (N637T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182380	NM_015906.4(TRIM33):c.1894G>A (p.Val632Ile)	TRIM33 (V632I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182379	NM_015906.4(TRIM33):c.1885C>A (p.Pro629Thr)	TRIM33 (P629T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2534705	NM_015906.4(TRIM33):c.323G>C (p.Gly108Ala)	LOC129931243, TRIM33 (G108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534704	NM_015906.4(TRIM33):c.169G>A (p.Gly57Ser)	LOC129931243, TRIM33 (G57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534702	NM_015906.4(TRIM33):c.151G>A (p.Gly51Ser)	LOC129931243, TRIM33 (G51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524190	NM_015906.4(TRIM33):c.1156A>C (p.Asn386His)	TRIM33 (N386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495920	NM_015906.4(TRIM33):c.2342C>G (p.Thr781Ser)	TRIM33 (T781S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490030	NM_015906.4(TRIM33):c.2968A>G (p.Ile990Val)	TRIM33 (I990V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481105	NM_015906.4(TRIM33):c.299C>T (p.Ala100Val)	LOC129931243, TRIM33 (A100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445413	NM_015906.4(TRIM33):c.236C>T (p.Ser79Leu)	LOC129931243, TRIM33 (S79L)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445282	NM_015906.4(TRIM33):c.2477G>C (p.Ser826Thr)	TRIM33 (S826T)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445278	NM_015906.4(TRIM33):c.1210G>A (p.Gly404Ser)	TRIM33 (G404S)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445274	NM_015906.4(TRIM33):c.412G>A (p.Ala138Thr)	TRIM33 (A138T)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2357459	NM_015906.4(TRIM33):c.239C>T (p.Ser80Phe)	LOC129931243, TRIM33 (S80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311134	NM_015906.4(TRIM33):c.3065A>G (p.Asp1022Gly)	TRIM33 (D1022G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302347	NM_015906.4(TRIM33):c.2380C>G (p.Gln794Glu)	TRIM33 (Q794E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291265	NM_015906.4(TRIM33):c.623G>T (p.Ser208Ile)	TRIM33 (S208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284900	NM_015906.4(TRIM33):c.1584T>G (p.His528Gln)	TRIM33 (H528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229881	NM_015906.4(TRIM33):c.188A>C (p.Asp63Ala)	LOC129931243, TRIM33 (D63A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221032	NM_015906.4(TRIM33):c.212C>T (p.Ser71Phe)	LOC129931243, TRIM33 (S71F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808291	GRCh37/hg19 1p13.2(chr1:114833697-115377089)x1	AMPD1, BCAS2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1278118	NM_015906.4(TRIM33):c.1146A>G (p.Gln382=)	TRIM33	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 786854	NM_015906.4(TRIM33):c.1887C>G (p.Pro629=)	TRIM33	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782385	NM_015906.4(TRIM33):c.2880C>T (p.Pro960=)	TRIM33	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775577	NM_015906.4(TRIM33):c.2491T>C (p.Leu831=)	TRIM33	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738608	NM_015906.4(TRIM33):c.1914C>G (p.Thr638=)	TRIM33	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 150274	GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1	AMPD1, BCAS2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53