TRIM65[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 2334653	NM_173547.4(TRIM65):c.1532C>T (p.Pro511Leu)	TRIM65 (P489L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211176	NM_173547.4(TRIM65):c.1477G>C (p.Glu493Gln)	TRIM65 (E471Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353025	NM_173547.4(TRIM65):c.1405C>A (p.Pro469Thr)	TRIM65 (P469T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621729	NM_173547.4(TRIM65):c.1343G>A (p.Gly448Glu)	TRIM65 (G426E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383921	NM_173547.4(TRIM65):c.1279G>C (p.Val427Leu)	TRIM65 (V405L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216803	NM_173547.4(TRIM65):c.1279G>A (p.Val427Ile)	TRIM65 (V405I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495296	NM_173547.4(TRIM65):c.1265C>T (p.Ser422Phe)	TRIM65 (S400F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469182	NM_173547.4(TRIM65):c.1262G>T (p.Cys421Phe)	TRIM65 (C421F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467629	NM_173547.4(TRIM65):c.1253G>A (p.Arg418Gln)	TRIM65 (R396Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408212	NM_173547.4(TRIM65):c.1195G>A (p.Val399Ile)	TRIM65 (V399I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182689	NM_173547.4(TRIM65):c.1169C>T (p.Ala390Val)	TRIM65 (A390V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258715	NM_173547.4(TRIM65):c.1166G>A (p.Arg389His)	TRIM65 (R367H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367740	NM_173547.4(TRIM65):c.1144G>A (p.Gly382Arg)	TRIM65 (G382R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215096	NM_173547.4(TRIM65):c.1087G>A (p.Gly363Ser)	TRIM65 (G363S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182688	NM_173547.4(TRIM65):c.1046A>G (p.Gln349Arg)	TRIM65 (Q327R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520217	NM_173547.4(TRIM65):c.1043G>A (p.Arg348His)	TRIM65 (R348H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274297	NM_173547.4(TRIM65):c.1043G>T (p.Arg348Leu)	TRIM65 (R348L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245981	NM_173547.4(TRIM65):c.1042C>T (p.Arg348Cys)	TRIM65 (R326C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215143	NM_173547.4(TRIM65):c.1025G>A (p.Arg342His)	TRIM65 (R320H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182701	NM_173547.4(TRIM65):c.965T>G (p.Leu322Arg)	TRIM65 (L322R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182700	NM_173547.4(TRIM65):c.938C>T (p.Ala313Val)	TRIM65 (A313V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182699	NM_173547.4(TRIM65):c.872G>A (p.Gly291Glu)	TRIM65 (G291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521275	NM_173547.4(TRIM65):c.860T>A (p.Leu287His)	TRIM65 (L287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308779	NM_173547.4(TRIM65):c.851G>A (p.Cys284Tyr)	TRIM65 (C284Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469912	NM_173547.4(TRIM65):c.833A>C (p.Gln278Pro)	TRIM65 (Q278P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741929	NM_173547.4(TRIM65):c.788C>A (p.Thr263Asn)	TRIM65 (T263N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3182698	NM_173547.4(TRIM65):c.761A>G (p.Gln254Arg)	TRIM65 (Q254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182697	NM_173547.4(TRIM65):c.685C>T (p.Arg229Cys)	TRIM65 (R229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600363	NM_173547.4(TRIM65):c.656G>A (p.Arg219Gln)	TRIM65 (R219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613933	NM_173547.4(TRIM65):c.646G>A (p.Glu216Lys)	TRIM65 (E216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483009	NM_173547.4(TRIM65):c.641G>A (p.Arg214Gln)	TRIM65 (R214Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389504	NM_173547.4(TRIM65):c.626C>T (p.Ala209Val)	TRIM65 (A209V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512942	NM_173547.4(TRIM65):c.614C>T (p.Ala205Val)	TRIM65 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648283	NM_173547.4(TRIM65):c.606C>T (p.Ile202=)	TRIM65	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277836	NM_173547.4(TRIM65):c.575A>C (p.Glu192Ala)	TRIM65 (E192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182696	NM_173547.4(TRIM65):c.533C>T (p.Ser178Phe)	TRIM65 (S178F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182695	NM_173547.4(TRIM65):c.488G>A (p.Arg163His)	TRIM65 (R163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182694	NM_173547.4(TRIM65):c.466G>A (p.Glu156Lys)	TRIM65 (E156K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623410	NM_173547.4(TRIM65):c.454G>A (p.Ala152Thr)	TRIM65 (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328900	NM_173547.4(TRIM65):c.410G>T (p.Arg137Leu)	TRIM65 (R137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311742	NM_173547.4(TRIM65):c.400C>T (p.Arg134Cys)	TRIM65 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387659	NM_173547.4(TRIM65):c.335G>C (p.Cys112Ser)	TRIM65 (C112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328901	NM_173547.4(TRIM65):c.327G>C (p.Glu109Asp)	TRIM65 (E109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395721	NM_173547.4(TRIM65):c.320G>A (p.Arg107Gln)	TRIM65 (R107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182693	NM_173547.4(TRIM65):c.307G>A (p.Glu103Lys)	TRIM65 (E103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182692	NM_173547.4(TRIM65):c.294C>G (p.His98Gln)	TRIM65 (H98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182691	NM_173547.4(TRIM65):c.289C>T (p.Arg97Cys)	TRIM65 (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380770	NM_173547.4(TRIM65):c.269A>C (p.Asp90Ala)	TRIM65 (D90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328899	NM_173547.4(TRIM65):c.245G>A (p.Gly82Asp)	TRIM65 (G82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539800	NM_173547.4(TRIM65):c.188A>T (p.Asn63Ile)	TRIM65 (N63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394234	NM_173547.4(TRIM65):c.152G>C (p.Arg51Pro)	TRIM65 (R51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470684	NM_173547.4(TRIM65):c.110G>A (p.Arg37Gln)	TRIM65 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384138	NM_173547.4(TRIM65):c.55T>C (p.Tyr19His)	TRIM65 (Y19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515006	NM_173547.4(TRIM65):c.37G>A (p.Ala13Thr)	TRIM65 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219160	NM_173547.4(TRIM65):c.32C>G (p.Thr11Ser)	TRIM65 (T11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278337	NM_173547.4(TRIM65):c.31A>G (p.Thr11Ala)	TRIM65 (T11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182690	NM_173547.4(TRIM65):c.11A>G (p.Gln4Arg)	TRIM65 (Q4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243041	NC_000017.10:g.(?_73720784)_(73975154_?)dup	UNC13D, TRIM65 +9 more	Duplication	Acyl-CoA oxidase deficiency	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687680	GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3	ACOX1, FBF1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443158	GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3	ACOX1, FBF1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395477	GRCh37/hg19 17q25.1(chr17:73886097-73914116)x1	FBF1, MRPL38 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 77