TRIM55[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 3328829	NM_184085.2(TRIM55):c.8C>T (p.Ala3Val)	TRIM55 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035174	NM_184085.2(TRIM55):c.9A>G (p.Ala3=)	TRIM55	Single nucleotide variant (synonymous variant)	TRIM55-related disorder	GLikely benign
Select item 3044553	NM_184085.2(TRIM55):c.66G>A (p.Lys22=)	TRIM55	Single nucleotide variant (synonymous variant)	TRIM55-related disorder	GLikely benign
Select item 2403861	NM_184085.2(TRIM55):c.77G>A (p.Cys26Tyr)	TRIM55 (C26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041220	NM_184085.2(TRIM55):c.102G>A (p.Thr34=)	TRIM55	Single nucleotide variant (synonymous variant)	TRIM55-related disorder	GBenign
Select item 3182599	NM_184085.2(TRIM55):c.179C>T (p.Pro60Leu)	TRIM55 (P60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598911	NM_184085.2(TRIM55):c.191C>T (p.Thr64Ile)	TRIM55 (T64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035048	NM_184085.2(TRIM55):c.216A>T (p.Ser72=)	TRIM55	Single nucleotide variant (synonymous variant)	TRIM55-related disorder	GLikely benign
Select item 2234208	NM_184085.2(TRIM55):c.358G>T (p.Asp120Tyr)	TRIM55 (D120Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401864	NM_184085.2(TRIM55):c.391C>T (p.Arg131Cys)	TRIM55 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182600	NM_184085.2(TRIM55):c.392G>A (p.Arg131His)	TRIM55 (R131H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328831	NM_184085.2(TRIM55):c.465C>G (p.Asp155Glu)	TRIM55 (D155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315041	NM_184085.2(TRIM55):c.482T>G (p.Leu161Arg)	TRIM55 (L161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597381	NM_184085.2(TRIM55):c.493T>C (p.Phe165Leu)	TRIM55 (F165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043177	NM_184085.2(TRIM55):c.501A>G (p.Arg167=)	TRIM55	Single nucleotide variant (synonymous variant)	TRIM55-related disorder	GLikely benign
Select item 3328828	NM_184085.2(TRIM55):c.532A>G (p.Ile178Val)	TRIM55 (I178V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3053119	NM_184085.2(TRIM55):c.553C>A (p.Arg185=)	TRIM55	Single nucleotide variant (synonymous variant)	TRIM55-related disorder	GLikely benign
Select item 3328830	NM_184085.2(TRIM55):c.613A>G (p.Arg205Gly)	TRIM55 (R205G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051012	NM_184085.2(TRIM55):c.704G>A (p.Arg235Gln)	TRIM55 (R235Q)	Single nucleotide variant (missense variant +1 more)	TRIM55-related disorder	GLikely benign
Select item 2370870	NM_184085.2(TRIM55):c.707C>T (p.Thr236Ile)	TRIM55 (T236I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273213	NM_184085.2(TRIM55):c.715G>A (p.Glu239Lys)	TRIM55 (E239K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347708	NM_184085.2(TRIM55):c.736G>T (p.Ala246Ser)	TRIM55 (A246S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045376	NM_184085.2(TRIM55):c.771C>T (p.Asn257=)	TRIM55	Single nucleotide variant (synonymous variant +1 more)	TRIM55-related disorder	GBenign
Select item 3058969	NM_184085.2(TRIM55):c.867G>A (p.Ser289=)	TRIM55	Single nucleotide variant (synonymous variant +1 more)	TRIM55-related disorder	GBenign
Select item 3328833	NM_184085.2(TRIM55):c.925C>A (p.His309Asn)	TRIM55 (H309N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597184	NM_184085.2(TRIM55):c.973G>A (p.Asp325Asn)	TRIM55 (D325N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182601	NM_184085.2(TRIM55):c.976T>C (p.Phe326Leu)	TRIM55 (F326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060835	NM_184085.2(TRIM55):c.987A>G (p.Glu329=)	TRIM55	Single nucleotide variant (synonymous variant +1 more)	TRIM55-related disorder	GBenign
Select item 3059531	NM_184085.2(TRIM55):c.1028A>G (p.Lys343Arg)	TRIM55 (K343R)	Single nucleotide variant (missense variant +1 more)	TRIM55-related disorder	GBenign
Select item 2482358	NM_184085.2(TRIM55):c.1048G>C (p.Gly350Arg)	TRIM55 (G350R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182592	NM_184085.2(TRIM55):c.1084G>A (p.Val362Ile)	TRIM55 (V362I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243765	NM_184085.2(TRIM55):c.1093G>A (p.Glu365Lys)	TRIM55 (E365K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182593	NM_184085.2(TRIM55):c.1168G>T (p.Ala390Ser)	TRIM55 (A390S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396879	NM_184085.2(TRIM55):c.1199C>T (p.Pro400Leu)	TRIM55 (P400L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182594	NM_184085.2(TRIM55):c.1225C>T (p.Pro409Ser)	TRIM55 (P409S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328826	NM_184085.2(TRIM55):c.1282A>G (p.Thr428Ala)	TRIM55 (T428A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046069	NM_184085.2(TRIM55):c.1311G>A (p.Ala437=)	TRIM55	Single nucleotide variant (synonymous variant +1 more)	TRIM55-related disorder	GLikely benign
Select item 3328832	NM_184085.2(TRIM55):c.1335G>T (p.Trp445Cys)	TRIM55 (W445C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357604	NM_184085.2(TRIM55):c.1349C>T (p.Thr450Ile)	TRIM55 (T450I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457715	NM_184085.2(TRIM55):c.1352G>A (p.Arg451Gln)	TRIM55 (R451Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182596	NM_184085.2(TRIM55):c.1360A>G (p.Thr454Ala)	TRIM55 (T454A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057281	NM_184085.2(TRIM55):c.1439G>T (p.Arg480Leu)	TRIM55 (R480L)	Single nucleotide variant (missense variant +1 more)	TRIM55-related disorder	GLikely benign
Select item 3328827	NM_184085.2(TRIM55):c.1441A>C (p.Lys481Gln)	TRIM55 (K481Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042389	NM_184085.2(TRIM55):c.1467G>A (p.Ala489=)	TRIM55	Single nucleotide variant (synonymous variant +1 more)	TRIM55-related disorder	GBenign
Select item 2226775	NM_184085.2(TRIM55):c.1489G>T (p.Gly497Cys)	TRIM55 (G497C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378607	NM_184085.2(TRIM55):c.1490G>A (p.Gly497Asp)	TRIM55 (G497D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 3182597	NM_184085.2(TRIM55):c.1540C>T (p.Pro514Ser)	TRIM55 (P207S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2369710	NM_184085.2(TRIM55):c.1550A>G (p.Gln517Arg)	TRIM55 (Q421R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3058364	NM_184085.2(TRIM55):c.1557G>A (p.Gln519=)	TRIM55	Single nucleotide variant (3 prime UTR variant +1 more)	TRIM55-related disorder	GLikely benign
Select item 2658632	NM_184085.2(TRIM55):c.1581T>C (p.Ser527=)	TRIM55	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3182598	NM_184085.2(TRIM55):c.1604G>A (p.Arg535His)	TRIM55 (R228H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2589731	NM_184085.2(TRIM55):c.1637T>C (p.Leu546Pro)	TRIM55 (L239P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1808771	GRCh37/hg19 8q13.1(chr8:66691197-67071982)x1	DNAJC5B, PDE7A +1 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527438	GRCh37/hg19 8q13.1(chr8:66691196-67071911)	DNAJC5B, PDE7A +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 979236	GRCh37/hg19 8q13.1(chr8:67066779-67162066)x1	TRIM55, CRH	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 686117	GRCh37/hg19 8q12.3-13.1(chr8:65280508-67782846)x1	ADHFE1, ARMC1 +14 more	Copy number loss	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 80