TRIM69[gene] - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572170	NC_000015.10:g.44330225_44821972dup	B2M, CTDSPL2 +21 more	Duplication	See cases	GUncertain significance
Select item 2336119	NM_182985.5(TRIM69):c.26C>G (p.Ser9Cys)	TRIM69 (S9C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714652	NM_182985.5(TRIM69):c.34G>A (p.Asp12Asn)	TRIM69 (D12N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2407025	NM_182985.5(TRIM69):c.83C>T (p.Ser28Phe)	TRIM69 (S28F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250362	NM_182985.5(TRIM69):c.110T>C (p.Met37Thr)	TRIM69 (M37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287851	NM_182985.5(TRIM69):c.140G>T (p.Trp47Leu)	TRIM69 (W47L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182768	NM_182985.5(TRIM69):c.217G>A (p.Ala73Thr)	TRIM69 (A73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621864	NM_182985.5(TRIM69):c.258G>C (p.Gln86His)	TRIM69 (Q86H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182769	NM_182985.5(TRIM69):c.268T>C (p.Cys90Arg)	TRIM69 (C90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205466	NM_182985.5(TRIM69):c.329A>G (p.Lys110Arg)	TRIM69 (K110R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393270	NM_182985.5(TRIM69):c.331G>T (p.Gly111Cys)	TRIM69 (G111C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613575	NM_182985.5(TRIM69):c.346C>T (p.Pro116Ser)	TRIM69 (P116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208605	NM_182985.5(TRIM69):c.371T>G (p.Leu124Arg)	TRIM69 (L124R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396112	NM_182985.5(TRIM69):c.376A>T (p.Ser126Cys)	TRIM69 (S126C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182770	NM_182985.5(TRIM69):c.410G>A (p.Cys137Tyr)	TRIM69 (C137Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203956	NM_182985.5(TRIM69):c.412A>C (p.Lys138Gln)	TRIM69 (K138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182771	NM_182985.5(TRIM69):c.490C>T (p.Leu164Phe)	TRIM69 (L5F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182772	NM_182985.5(TRIM69):c.532C>T (p.Leu178Phe)	TRIM69 (L19F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182773	NM_182985.5(TRIM69):c.632A>G (p.His211Arg)	TRIM69 (H211R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182774	NM_182985.5(TRIM69):c.676C>T (p.Arg226Trp)	TRIM69 (R22W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533687	NM_182985.5(TRIM69):c.746T>C (p.Leu249Ser)	TRIM69 (L90S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255632	NM_182985.5(TRIM69):c.782C>T (p.Thr261Met)	TRIM69 (T261M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2334552	NM_182985.5(TRIM69):c.805T>C (p.Phe269Leu)	TRIM69 (F110L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358457	NM_182985.5(TRIM69):c.848G>A (p.Gly283Glu)	TRIM69 (G79E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472800	NM_182985.5(TRIM69):c.852G>A (p.Met284Ile)	TRIM69 (M47I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403326	NM_182985.5(TRIM69):c.943C>A (p.Gln315Lys)	TRIM69 (Q78K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411714	NM_182985.5(TRIM69):c.944A>G (p.Gln315Arg)	TRIM69 (Q94R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182775	NM_182985.5(TRIM69):c.956G>A (p.Cys319Tyr)	TRIM69 (C98Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475917	NM_182985.5(TRIM69):c.958C>T (p.Pro320Ser)	TRIM69 (P99S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance
Select item 709278	NM_182985.5(TRIM69):c.973C>T (p.Leu325=)	TRIM69	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2612994	NM_182985.5(TRIM69):c.999C>G (p.His333Gln)	TRIM69 (H174Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182763	NM_182985.5(TRIM69):c.1112G>A (p.Arg371Lys)	TRIM69 (R150K +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 711617	NM_182985.5(TRIM69):c.1195A>T (p.Ile399Phe)	TRIM69 (I162F +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2588270	NM_182985.5(TRIM69):c.1201C>T (p.Arg401Trp)	TRIM69 (R180W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182764	NM_182985.5(TRIM69):c.1216C>G (p.Pro406Ala)	TRIM69 (P202A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249282	NM_182985.5(TRIM69):c.1260C>A (p.Asn420Lys)	TRIM69 (N183K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182765	NM_182985.5(TRIM69):c.1288C>T (p.Pro430Ser)	TRIM69 (P193S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545582	NM_182985.5(TRIM69):c.1304C>A (p.Thr435Lys)	TRIM69 (T276K +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535557	NM_182985.5(TRIM69):c.1316A>G (p.Asn439Ser)	TRIM69 (N202S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376664	NM_182985.5(TRIM69):c.1322A>G (p.Asp441Gly)	TRIM69 (D237G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182766	NM_182985.5(TRIM69):c.1323C>A (p.Asp441Glu)	TRIM69 (D204E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321332	NM_182985.5(TRIM69):c.1404C>A (p.Phe468Leu)	TRIM69 (F231L +4 more)	Single nucleotide variant (missense variant)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 3182767	NM_182985.5(TRIM69):c.1442G>A (p.Cys481Tyr)	TRIM69 (C260Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228885	NM_182985.5(TRIM69):c.1483C>T (p.His495Tyr)	TRIM69 (H258Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256525	NM_182985.5(TRIM69):c.1495C>T (p.Pro499Ser)	TRIM69 (P262S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526450	GRCh37/hg19 15q21.1(chr15:45056077-45772114)	C15orf48, DUOX1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	B2M, BLOC1S6 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 980034	GRCh37/hg19 15q21.1(chr15:45056077-45772378)x3	SORD, TERB2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 833124	NC_000015.10:g.(?_44563111)_(44860174_?)dup	B2M, PATL2 +2 more	Duplication	Hereditary spastic paraplegia 11	GUncertain significance
Select item 564198	GRCh37/hg19 15q21.1(chr15:44890130-45381998)x3	TERB2, SPG11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442681	GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3	AFG2B, C15orf48 +10 more	Copy number gain	See cases	GUncertain significance
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 253933	GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3	C15orf48, TERB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65