ClinVar for Gene (Select 51592) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	SIKE1, DENND2C +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 46