TRIM52[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 147753	GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3	BTNL3, BTNL8 +90 more	Copy number gain	See cases	GUncertain significance
Select item 145856	GRCh38/hg38 5q35.3(chr5:181249063-181285203)x1	CTC-338M12.4, LOC129995513 +5 more	Copy number loss	See cases	GLikely benign
Select item 2589112	NM_001346048.2(TRIM52):c.814-613T>C	CTC-338M12.4, TRIM52 (L279P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3328818	NM_001346048.2(TRIM52):c.814-629A>G	CTC-338M12.4, TRIM52 (K274E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2524666	NM_001346048.2(TRIM52):c.808T>C (p.Tyr270His)	TRIM52 (Y270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223976	NM_001346048.2(TRIM52):c.803A>G (p.Gln268Arg)	TRIM52 (Q268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373628	NM_001346048.2(TRIM52):c.793G>A (p.Glu265Lys)	TRIM52 (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322567	NM_001346048.2(TRIM52):c.638C>T (p.Pro213Leu)	TRIM52 (P213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229072	NM_001346048.2(TRIM52):c.560G>A (p.Arg187Gln)	TRIM52 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182585	NM_001346048.2(TRIM52):c.555G>T (p.Gln185His)	TRIM52 (Q185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556206	NM_001346048.2(TRIM52):c.480C>A (p.Asp160Glu)	TRIM52 (D160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375331	NM_001346048.2(TRIM52):c.467C>A (p.Ala156Glu)	TRIM52 (A156E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242637	NM_001346048.2(TRIM52):c.465A>T (p.Glu155Asp)	TRIM52 (E155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223203	NM_001346048.2(TRIM52):c.416T>G (p.Leu139Trp)	TRIM52 (L139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328819	NM_001346048.2(TRIM52):c.407T>C (p.Leu136Pro)	TRIM52 (L136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621766	NM_001346048.2(TRIM52):c.338A>G (p.Asn113Ser)	TRIM52 (N113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328817	NM_001346048.2(TRIM52):c.298G>A (p.Asp100Asn)	TRIM52 (D100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182584	NM_001346048.2(TRIM52):c.288C>G (p.Phe96Leu)	TRIM52 (F96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328821	NM_001346048.2(TRIM52):c.254T>C (p.Val85Ala)	TRIM52 (V85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273486	NM_001346048.2(TRIM52):c.236A>T (p.Asp79Val)	TRIM52 (D79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351633	NM_001346048.2(TRIM52):c.212C>T (p.Ala71Val)	TRIM52 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328820	NM_001346048.2(TRIM52):c.144G>T (p.Trp48Cys)	TRIM52 (W48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281703	NM_001346048.2(TRIM52):c.77A>C (p.Tyr26Ser)	TRIM52 (Y26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1807832	GRCh37/hg19 5q35.3(chr5:180148276-180719789)x1	BTNL3, BTNL8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979542	GRCh37/hg19 5q35.3(chr5:180064955-180719789)x3	TRIM7, RACK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 979539	GRCh37/hg19 5q35.3(chr5:180533007-180719789)x1	OR2V2, TRP-TGG3-1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814764	GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3	OR2V2, TRIM7 +22 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443257	GRCh37/hg19 5q35.3(chr5:180510829-180719789)x1	OR2V1, OR2V2 +9 more	Copy number loss	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 52