TRIM4[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 151564	GRCh38/hg38 7q22.1(chr7:99643456-99913142)x3	CYP3A4, CYP3A43 +11 more	Copy number gain	See cases	GLikely benign
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 2335807	NM_033091.3(TRIM4):c.1380T>G (p.Ser460Arg)	TRIM4 (S460R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 441012	NM_033091.3(TRIM4):c.1372del (p.Trp458fs)	TRIM4 (W458fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 2211536	NM_033091.3(TRIM4):c.1336T>C (p.Ser446Pro)	TRIM4 (S472P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182431	NM_033091.3(TRIM4):c.1315G>A (p.Gly439Arg)	TRIM4 (G439R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554986	NM_033091.3(TRIM4):c.1309G>A (p.Val437Met)	TRIM4 (V437M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595717	NM_033091.3(TRIM4):c.1289A>C (p.Asn430Thr)	TRIM4 (N430T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182430	NM_033091.3(TRIM4):c.1276C>G (p.Arg426Gly)	TRIM4 (R426G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182429	NM_033091.3(TRIM4):c.1209G>T (p.Leu403Phe)	TRIM4 (L403F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328726	NM_033091.3(TRIM4):c.1142G>A (p.Arg381His)	TRIM4 (R407H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182428	NM_033091.3(TRIM4):c.1141C>T (p.Arg381Cys)	TRIM4 (R381C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377136	NM_033091.3(TRIM4):c.1072G>C (p.Val358Leu)	TRIM4 (V384L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539615	NM_033091.3(TRIM4):c.1006A>G (p.Arg336Gly)	TRIM4 (R362G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468527	NM_033091.3(TRIM4):c.973T>C (p.Trp325Arg)	TRIM4 (W351R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328724	NM_033091.3(TRIM4):c.928A>T (p.Ser310Cys)	TRIM4 (S310C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208218	NM_033091.3(TRIM4):c.913A>G (p.Asn305Asp)	TRIM4 (N305D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472526	NM_033091.3(TRIM4):c.833G>A (p.Arg278Gln)	TRIM4 (R278Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257435	NM_033091.3(TRIM4):c.804G>C (p.Gln268His)	TRIM4 (Q268H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533589	NM_033091.3(TRIM4):c.740C>A (p.Thr247Asn)	TRIM4 (T247N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560390	NM_033091.3(TRIM4):c.734T>A (p.Val245Glu)	TRIM4 (V245E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311998	NM_033091.3(TRIM4):c.700C>G (p.Pro234Ala)	TRIM4 (P234A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328725	NM_033091.3(TRIM4):c.542A>C (p.His181Pro)	TRIM4 (H181P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376587	NM_033091.3(TRIM4):c.524C>T (p.Thr175Met)	TRIM4 (T175M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608235	NM_033091.3(TRIM4):c.509G>A (p.Arg170Gln)	TRIM4 (R196Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524832	NM_033091.3(TRIM4):c.475G>A (p.Ala159Thr)	TRIM4 (A159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278112	NM_033091.3(TRIM4):c.400C>A (p.Leu134Ile)	TRIM4 (L160I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182435	NM_033091.3(TRIM4):c.355G>A (p.Ala119Thr)	TRIM4 (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297496	NM_033091.3(TRIM4):c.326G>T (p.Cys109Phe)	TRIM4 (C109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182434	NM_033091.3(TRIM4):c.317G>A (p.Cys106Tyr)	TRIM4 (C106Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535706	NM_033091.3(TRIM4):c.295G>A (p.Glu99Lys)	LOC129998885, TRIM4 (E99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182433	NM_033091.3(TRIM4):c.247C>A (p.Pro83Thr)	LOC129998885, TRIM4 (P83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317076	NM_033091.3(TRIM4):c.233G>C (p.Arg78Pro)	LOC129998885, TRIM4 (R78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552785	NM_033091.3(TRIM4):c.209T>C (p.Leu70Pro)	LOC129998885, TRIM4 (L70P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465630	NM_033091.3(TRIM4):c.197C>T (p.Ala66Val)	LOC129998885, TRIM4 (A66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616208	NM_033091.3(TRIM4):c.164C>T (p.Pro55Leu)	LOC129998885, TRIM4 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182427	NM_033091.3(TRIM4):c.117C>G (p.Asn39Lys)	TRIM4 (N39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387075	NM_033091.3(TRIM4):c.85C>G (p.His29Asp)	TRIM4 (H29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182436	NM_033091.3(TRIM4):c.60G>C (p.Gln20His)	TRIM4 (Q20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326581	NM_033091.3(TRIM4):c.28T>G (p.Leu10Val)	TRIM4 (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 563269	GRCh37/hg19 7q22.1(chr7:99502970-99555023)x1	GJC3, TRIM4	Copy number loss	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 67