TRIM2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	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 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 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 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 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 150934	GRCh38/hg38 4q31.3(chr4:152519348-153381536)x1	ARFIP1, FBXW7 +39 more	Copy number loss	See cases	GUncertain significance
Select item 1214549	NM_001130067.2(TRIM2):c.-49+50924G>A	TRIM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250955	NM_001130067.2(TRIM2):c.-49+51013T>C	TRIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 474600	NC_000004.12:g.(?_153204511)_(153276150_?)del	LOC129993256, LOC129993257 +1 more	Deletion	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 3039148	NM_015271.5(TRIM2):c.-2C>T	TRIM2	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM2-related disorder	GLikely benign
Select item 809695	NM_015271.5(TRIM2):c.2_5dup (p.Arg3fs)	TRIM2 (R3fs)	Duplication (frameshift variant +3 more)	not provided	GLikely pathogenic
Select item 3182269	NM_015271.5(TRIM2):c.26C>T (p.Thr9Met)	TRIM2 (T9M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1264712	NM_015271.5(TRIM2):c.30+286T>C	TRIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263048	NM_015271.5(TRIM2):c.31-261G>A	TRIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279594	NM_015271.5(TRIM2):c.31-217C>T	TRIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231381	NM_015271.5(TRIM2):c.31-206T>C	TRIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033195	NM_015271.5(TRIM2):c.57C>T (p.Ala19=)	TRIM2	Single nucleotide variant (5 prime UTR variant +2 more)	TRIM2-related disorder	GLikely benign
Select item 1693888	NM_015271.5(TRIM2):c.80G>T (p.Arg27Met)	TRIM2 (R17M +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2592057	NM_015271.5(TRIM2):c.81G>C (p.Arg27Ser)	TRIM2 (R18S +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2043701	NM_015271.5(TRIM2):c.85G>T (p.Ala29Ser)	TRIM2 (A19S +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1401190	NM_015271.5(TRIM2):c.91G>A (p.Glu31Lys)	TRIM2 (E21K +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2146834	NM_015271.5(TRIM2):c.95G>A (p.Gly32Asp)	TRIM2 (G32D +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1432708	NM_015271.5(TRIM2):c.106C>A (p.Pro36Thr)	TRIM2 (P27T +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2709906	NM_015271.5(TRIM2):c.111T>A (p.Ser37Arg)	TRIM2 (S27R +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1159922	NM_015271.5(TRIM2):c.114T>G (p.Pro38=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2179388	NM_015271.5(TRIM2):c.117G>C (p.Val39=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	TRIM2-related disorder +1 more	GLikely benign
Select item 1429827	NM_015271.5(TRIM2):c.119T>C (p.Val40Ala)	TRIM2 (V31A +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 935743	NM_015271.5(TRIM2):c.121C>T (p.Arg41Cys)	TRIM2 (R32C +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 474610	NM_015271.5(TRIM2):c.122G>A (p.Arg41His)	TRIM2 (R14H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign
Select item 2107182	NM_015271.5(TRIM2):c.125A>C (p.Gln42Pro)	TRIM2 (Q33P +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2886339	NM_015271.5(TRIM2):c.144G>C (p.Leu48=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 474614	NM_015271.5(TRIM2):c.153T>C (p.Ser51=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 1348583	NM_015271.5(TRIM2):c.166C>T (p.Arg56Trp)	TRIM2 (R55W +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2856522	NM_015271.5(TRIM2):c.167G>T (p.Arg56Leu)	TRIM2 (R29L +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 652907	NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln)	TRIM2 (R55Q +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2172641	NM_015271.5(TRIM2):c.168G>T (p.Arg56=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 3018177	NM_015271.5(TRIM2):c.177T>C (p.Asn59=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2155433	NM_015271.5(TRIM2):c.183G>A (p.Lys61=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 474601	NM_015271.5(TRIM2):c.189C>T (p.Leu63=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 640153	NM_015271.5(TRIM2):c.210C>T (p.Cys70=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 1464133	NM_015271.5(TRIM2):c.211G>C (p.Glu71Gln)	TRIM2 (E44Q +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2016427	NM_015271.5(TRIM2):c.215+7C>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 763515	NM_015271.5(TRIM2):c.215+10C>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 1235812	NM_015271.5(TRIM2):c.215+39G>A	TRIM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1274883	NM_015271.5(TRIM2):c.215+217G>A	TRIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199572	NM_015271.5(TRIM2):c.216-237A>G	TRIM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830773	NM_015271.5(TRIM2):c.216-13G>T	TRIM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 756402	NM_015271.5(TRIM2):c.216-6C>T	TRIM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474602	NM_015271.5(TRIM2):c.220C>T (p.Leu74=)	TRIM2	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2437265	NM_015271.5(TRIM2):c.239C>T (p.Ala80Val)	TRIM2 (A53V +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2732716	NM_015271.5(TRIM2):c.251C>A (p.Thr84Asn)	TRIM2 (T57N +4 more)	Single nucleotide variant (intron variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 474606	NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile)	TRIM2 (T57I +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 3018510	NM_015271.5(TRIM2):c.262C>T (p.Pro88Ser)	TRIM2 (P61S +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1046673	NM_015271.5(TRIM2):c.272G>T (p.Arg91Leu)	TRIM2 (R90L +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2914155	NM_015271.5(TRIM2):c.278C>A (p.Thr93Asn)	TRIM2 (T92N +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1118482	NM_015271.5(TRIM2):c.282C>T (p.Ser94=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725191	NM_015271.5(TRIM2):c.291C>T (p.Pro97=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 663879	NM_015271.5(TRIM2):c.305C>T (p.Ala102Val)	TRIM2 (A101V +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1591186	NM_015271.5(TRIM2):c.306C>T (p.Ala102=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 762656	NM_015271.5(TRIM2):c.306C>G (p.Ala102=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2734677	NM_015271.5(TRIM2):c.307G>A (p.Ala103Thr)	TRIM2 (A103T +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1975109	NM_015271.5(TRIM2):c.309G>A (p.Ala103=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 967401	NM_015271.5(TRIM2):c.320A>G (p.Asn107Ser)	TRIM2 (N106S +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 652898	NM_015271.5(TRIM2):c.328A>G (p.Ile110Val)	TRIM2 (I109V +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 749748	NM_015271.5(TRIM2):c.330C>T (p.Ile110=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 1620528	NM_015271.5(TRIM2):c.345C>T (p.Asp115=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 618441	NM_015271.5(TRIM2):c.346G>A (p.Val116Met)	TRIM2 (V89M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1973281	NM_015271.5(TRIM2):c.358A>G (p.Thr120Ala)	TRIM2 (T111A +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1141679	NM_015271.5(TRIM2):c.360T>C (p.Thr120=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 843636	NM_015271.5(TRIM2):c.367A>T (p.Ser123Cys)	TRIM2 (S122C +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1129500	NM_015271.5(TRIM2):c.372C>T (p.Asn124=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2174687	NM_015271.5(TRIM2):c.373G>A (p.Ala125Thr)	TRIM2 (A125T +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2037822	NM_015271.5(TRIM2):c.377A>G (p.Glu126Gly)	TRIM2 (E116G +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 845153	NM_015271.5(TRIM2):c.388A>G (p.Ile130Val)	TRIM2 (I103V +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 743532	NM_015271.5(TRIM2):c.390C>T (p.Ile130=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 1485477	NM_015271.5(TRIM2):c.393G>A (p.Leu131=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2839813	NM_015271.5(TRIM2):c.404_405delinsTG (p.Thr135Met)	TRIM2 (T126M +5 more)	Indel (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1170346	NM_015271.5(TRIM2):c.405T>G (p.Thr135=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R +1 more	GBenign
Select item 1944060	NM_015271.5(TRIM2):c.408T>C (p.Ala136=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 854691	NM_015271.5(TRIM2):c.415G>C (p.Ala139Pro)	TRIM2 (A129P +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1053003	NM_015271.5(TRIM2):c.416C>T (p.Ala139Val)	TRIM2 (A112V +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 859978	NM_015271.5(TRIM2):c.417G>A (p.Ala139=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2917397	NM_015271.5(TRIM2):c.425C>T (p.Pro142Leu)	TRIM2 (P115L +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1716693	NM_015271.5(TRIM2):c.425C>G (p.Pro142Arg)	TRIM2 (P29R +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1615538	NM_015271.5(TRIM2):c.429C>T (p.Leu143=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 541517	NM_015271.5(TRIM2):c.444C>T (p.His148=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 1436310	NM_015271.5(TRIM2):c.445G>A (p.Asp149Asn)	TRIM2 (D149N +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 2858273	NM_015271.5(TRIM2):c.447T>A (p.Asp149Glu)	TRIM2 (D122E +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1674465	NM_015271.5(TRIM2):c.450G>A (p.Gly150=)	TRIM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2072121	NM_015271.5(TRIM2):c.453+8G>T	TRIM2 (G154V +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 1562874	NM_015271.5(TRIM2):c.453+8G>A	TRIM2 (G145D +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 2785397	NM_015271.5(TRIM2):c.453+13G>A	TRIM2 (D156N +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2R	GLikely benign
Select item 1278388	NM_015271.5(TRIM2):c.453+294del	TRIM2	Deletion (intron variant)	not provided	GBenign
Select item 2655134	NM_015271.5(TRIM2):c.454-2111C>T	TRIM2 (L170F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3067612	NM_015271.5(TRIM2):c.454-2106A>C	TRIM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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