TRIM59[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 2520113	NM_173084.3(TRIM59):c.1189G>A (p.Val397Met)	TRIM59, TRIM59-IFT80 (V397M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2271270	NM_173084.3(TRIM59):c.1175T>C (p.Leu392Ser)	TRIM59, TRIM59-IFT80 (L392S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270492	NM_173084.3(TRIM59):c.1157T>C (p.Leu386Pro)	TRIM59-IFT80, TRIM59 (L386P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235430	NM_173084.3(TRIM59):c.1130A>G (p.Asn377Ser)	TRIM59, TRIM59-IFT80 (N377S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614577	NM_173084.3(TRIM59):c.1084A>G (p.Ile362Val)	TRIM59, TRIM59-IFT80 (I362V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2531497	NM_173084.3(TRIM59):c.1015T>C (p.Ser339Pro)	TRIM59, TRIM59-IFT80 (S339P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346492	NM_173084.3(TRIM59):c.1007C>T (p.Thr336Ile)	TRIM59, TRIM59-IFT80 (T336I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496490	NM_173084.3(TRIM59):c.983A>G (p.Lys328Arg)	TRIM59, TRIM59-IFT80 (K328R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526397	NM_173084.3(TRIM59):c.930A>T (p.Lys310Asn)	TRIM59, TRIM59-IFT80 (K310N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294059	NM_173084.3(TRIM59):c.780T>A (p.His260Gln)	TRIM59-IFT80, TRIM59 (H260Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206496	NM_173084.3(TRIM59):c.653A>G (p.Tyr218Cys)	TRIM59, TRIM59-IFT80 (Y218C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604125	NM_173084.3(TRIM59):c.643A>T (p.Asn215Tyr)	TRIM59, TRIM59-IFT80 (N215Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555883	NM_173084.3(TRIM59):c.614C>T (p.Thr205Met)	TRIM59, TRIM59-IFT80 (T205M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485802	NM_173084.3(TRIM59):c.614C>A (p.Thr205Lys)	TRIM59, TRIM59-IFT80 (T205K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476106	NM_173084.3(TRIM59):c.565T>C (p.Phe189Leu)	TRIM59, TRIM59-IFT80 (F189L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508576	NM_173084.3(TRIM59):c.541G>T (p.Asp181Tyr)	TRIM59, TRIM59-IFT80 (D181Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349052	NM_173084.3(TRIM59):c.521C>T (p.Ser174Phe)	TRIM59-IFT80, TRIM59 (S174F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470828	NM_173084.3(TRIM59):c.478C>T (p.Leu160Phe)	TRIM59, TRIM59-IFT80 (L160F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512554	NM_173084.3(TRIM59):c.405A>C (p.Gln135His)	TRIM59, TRIM59-IFT80 (Q135H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394981	NM_173084.3(TRIM59):c.404A>C (p.Gln135Pro)	TRIM59, TRIM59-IFT80 (Q135P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485107	NM_173084.3(TRIM59):c.325T>G (p.Cys109Gly)	TRIM59, TRIM59-IFT80 (C109G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470907	NM_173084.3(TRIM59):c.281T>C (p.Ile94Thr)	TRIM59, TRIM59-IFT80 (I94T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300131	NM_173084.3(TRIM59):c.265G>A (p.Glu89Lys)	TRIM59, TRIM59-IFT80 (E89K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316788	NM_173084.3(TRIM59):c.178A>G (p.Arg60Gly)	TRIM59, TRIM59-IFT80 (R60G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367921	NM_173084.3(TRIM59):c.62G>A (p.Arg21His)	TRIM59-IFT80, TRIM59 (R21H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588778	NM_173084.3(TRIM59):c.29G>A (p.Cys10Tyr)	TRIM59-IFT80, TRIM59 (C10Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 635957	Single allele	IL12A, IQCJ +10 more	Duplication	Growth abnormality	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 48