TRIM3[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
Select item 3182361	NM_033278.4(TRIM3):c.2221C>T (p.Arg741Cys)	TRIM3 (R622C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460098	NM_033278.4(TRIM3):c.2039A>G (p.Asn680Ser)	TRIM3 (N680S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260382	NM_033278.4(TRIM3):c.1816G>A (p.Gly606Ser)	TRIM3 (G606S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216477	NM_033278.4(TRIM3):c.1684C>T (p.Pro562Ser)	TRIM3 (P443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182359	NM_033278.4(TRIM3):c.1663C>A (p.Arg555Ser)	TRIM3 (R436S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404645	NM_033278.4(TRIM3):c.1495C>T (p.Arg499Cys)	TRIM3 (R380C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357516	NM_033278.4(TRIM3):c.1316G>C (p.Gly439Ala)	TRIM3 (G320A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182358	NM_033278.4(TRIM3):c.1246G>T (p.Val416Leu)	TRIM3 (V297L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235815	NM_033278.4(TRIM3):c.1181C>T (p.Thr394Met)	TRIM3 (T275M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739716	NM_033278.4(TRIM3):c.1140C>T (p.Asp380=)	TRIM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338227	NM_033278.4(TRIM3):c.1067G>T (p.Arg356Leu)	TRIM3 (R237L +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3182367	NM_033278.4(TRIM3):c.913C>G (p.Leu305Val)	TRIM3 (L186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182366	NM_033278.4(TRIM3):c.910G>T (p.Gly304Cys)	TRIM3 (G185C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390271	NM_033278.4(TRIM3):c.910G>A (p.Gly304Ser)	TRIM3 (G304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328695	NM_033278.4(TRIM3):c.830G>A (p.Arg277Gln)	TRIM3 (R158Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225399	NM_033278.4(TRIM3):c.712C>A (p.Leu238Met)	TRIM3 (L119M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328694	NM_033278.4(TRIM3):c.600G>C (p.Gln200His)	TRIM3 (Q81H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602599	NM_033278.4(TRIM3):c.550G>A (p.Gly184Arg)	TRIM3 (G184R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301049	NM_033278.4(TRIM3):c.550G>C (p.Gly184Arg)	TRIM3 (G65R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182363	NM_033278.4(TRIM3):c.532G>A (p.Ala178Thr)	TRIM3 (A178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259510	NM_033278.4(TRIM3):c.491G>A (p.Arg164His)	TRIM3 (R164H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182362	NM_033278.4(TRIM3):c.470A>G (p.Gln157Arg)	TRIM3 (Q157R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387835	NM_033278.4(TRIM3):c.421G>A (p.Gly141Arg)	TRIM3 (G141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347959	NM_033278.4(TRIM3):c.415C>T (p.Arg139Cys)	TRIM3 (R20C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228020	NM_033278.4(TRIM3):c.386C>G (p.Ala129Gly)	TRIM3 (A129G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182360	NM_033278.4(TRIM3):c.194C>T (p.Thr65Met)	TRIM3 (T65M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592518	NM_033278.4(TRIM3):c.83G>A (p.Arg28Gln)	TRIM3 (R28Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182365	NM_033278.4(TRIM3):c.76C>G (p.Leu26Val)	TRIM3 (L26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182364	NM_033278.4(TRIM3):c.68G>C (p.Ser23Thr)	TRIM3 (S23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351402	NM_033278.4(TRIM3):c.20G>A (p.Ser7Asn)	TRIM3 (S7N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2423019	NC_000011.9:g.(?_6411829)_(6662844_?)dup	APBB1, ARFIP2 +10 more	Duplication	not provided	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	APBB1, ARFIP2 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 689280	GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3	APBB1, ARFIP2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 395620	GRCh37/hg19 11p15.4(chr11:6452242-6479506)x3	HPX, TRIM3	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 50