TRIM45[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 148763	GRCh38/hg38 1p13.1-12(chr1:116752007-117309842)x3	CD101, CD101-AS1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 2519328	NM_025188.4(TRIM45):c.1648T>C (p.Trp550Arg)	TRIM45 (W532R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411523	NM_025188.4(TRIM45):c.1568G>A (p.Arg523His)	TRIM45 (R505H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224596	NM_025188.4(TRIM45):c.1568G>T (p.Arg523Leu)	TRIM45 (R505L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339213	NM_025188.4(TRIM45):c.1508C>T (p.Pro503Leu)	TRIM45 (P503L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411893	NM_025188.4(TRIM45):c.1488G>C (p.Met496Ile)	TRIM45 (M496I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294232	NM_025188.4(TRIM45):c.1426G>A (p.Val476Ile)	TRIM45 (V458I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2222027	NM_025188.4(TRIM45):c.1421C>G (p.Pro474Arg)	TRIM45 (P474R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297056	NM_025188.4(TRIM45):c.1377T>A (p.Asp459Glu)	TRIM45 (D459E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516652	NM_025188.4(TRIM45):c.1315G>A (p.Val439Ile)	TRIM45 (V439I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2475440	NM_025188.4(TRIM45):c.1262C>A (p.Thr421Asn)	TRIM45 (T403N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508477	NM_025188.4(TRIM45):c.1250C>T (p.Thr417Met)	TRIM45 (T417M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341466	NM_025188.4(TRIM45):c.1150C>T (p.Arg384Cys)	TRIM45 (R384C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558489	NM_025188.4(TRIM45):c.1091C>T (p.Thr364Ile)	TRIM45 (T364I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611298	NM_025188.4(TRIM45):c.1057C>T (p.Arg353Trp)	TRIM45 (R353W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407313	NM_025188.4(TRIM45):c.808G>A (p.Val270Met)	TRIM45 (V270M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371296	NM_025188.4(TRIM45):c.745G>A (p.Val249Met)	TRIM45 (V249M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236445	NM_025188.4(TRIM45):c.671G>A (p.Cys224Tyr)	TRIM45 (C224Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295181	NM_025188.4(TRIM45):c.560A>G (p.Lys187Arg)	TRIM45 (K187R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292302	NM_025188.4(TRIM45):c.550C>T (p.Arg184Trp)	TRIM45 (R184W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334910	NM_025188.4(TRIM45):c.520G>A (p.Val174Met)	TRIM45 (V174M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454591	NM_025188.4(TRIM45):c.500A>G (p.Lys167Arg)	TRIM45 (K167R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299346	NM_025188.4(TRIM45):c.290G>A (p.Cys97Tyr)	TRIM45 (C97Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473334	NM_025188.4(TRIM45):c.222G>T (p.Glu74Asp)	TRIM45 (E74D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605409	NM_025188.4(TRIM45):c.142G>A (p.Val48Ile)	TRIM45 (V48I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063011	GRCh37/hg19 1p13.1-12(chr1:117338180-117990154)x1	CD101, MAN1A2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1808955	GRCh37/hg19 1p13.1-12(chr1:117590849-117994398)x3	MAN1A2, TRIM45 +2 more	Copy number gain	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 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 36