TRIM22[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance
Select item 2248974	NM_006074.5(TRIM22):c.107A>G (p.Gln36Arg)	TRIM22 (Q36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182281	NM_006074.5(TRIM22):c.115A>T (p.Ile39Phe)	TRIM22 (I39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182282	NM_006074.5(TRIM22):c.119C>T (p.Thr40Ile)	TRIM22 (T40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461198	NM_006074.5(TRIM22):c.128T>C (p.Ile43Thr)	TRIM22 (I43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039217	NM_006074.5(TRIM22):c.182C>A (p.Thr61Asn)	TRIM22 (T61N)	Single nucleotide variant (missense variant)	TRIM22-related disorder	GLikely benign
Select item 2335411	NM_006074.5(TRIM22):c.208C>A (p.Pro70Thr)	TRIM22 (P70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551813	NM_006074.5(TRIM22):c.209C>A (p.Pro70His)	TRIM22 (P70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328655	NM_006074.5(TRIM22):c.221T>G (p.Leu74Arg)	TRIM22 (L74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461197	NM_006074.5(TRIM22):c.239G>A (p.Arg80Lys)	TRIM22 (R80K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328239	NM_006074.5(TRIM22):c.247G>A (p.Glu83Lys)	TRIM22 (E83K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3461196	NM_006074.5(TRIM22):c.276G>C (p.Gln92His)	TRIM22 (Q92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687989	NM_006074.5(TRIM22):c.300T>C (p.His100=)	TRIM22	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 713987	NM_006074.5(TRIM22):c.318C>T (p.Ile106=)	TRIM22	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3328656	NM_006074.5(TRIM22):c.398T>A (p.Ile133Lys)	TRIM22 (I133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328659	NM_006074.5(TRIM22):c.442C>G (p.Leu148Val)	TRIM22 (L148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687980	NM_006074.5(TRIM22):c.463G>A (p.Asp155Asn)	TRIM22 (D155N)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2277503	NM_006074.5(TRIM22):c.520A>G (p.Asn174Asp)	TRIM22 (N174D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337359	NM_006074.5(TRIM22):c.592G>A (p.Glu198Lys)	TRIM22 (E198K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328660	NM_006074.5(TRIM22):c.617A>G (p.Glu206Gly)	TRIM22 (E206G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182287	NM_006074.5(TRIM22):c.619G>A (p.Glu207Lys)	TRIM22 (E203K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182288	NM_006074.5(TRIM22):c.620A>T (p.Glu207Val)	TRIM22 (E203V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402963	NM_006074.5(TRIM22):c.638T>C (p.Leu213Pro)	TRIM22 (L213P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688112	NM_006074.5(TRIM22):c.642T>C (p.Asp214=)	TRIM22	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3182289	NM_006074.5(TRIM22):c.695C>T (p.Thr232Met)	TRIM22 (T228M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688046	NM_006074.5(TRIM22):c.725G>C (p.Arg242Thr)	TRIM22 (R238T +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3039729	NM_006074.5(TRIM22):c.750+2T>C	TRIM22, TRIM5	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 2688343	NM_006074.5(TRIM22):c.750+13A>G	TRIM22	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688019	NM_006074.5(TRIM22):c.750+60T>C	TRIM22	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687999	NM_006074.5(TRIM22):c.750+73C>T	TRIM22	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3387868	NM_006074.5(TRIM22):c.790T>C (p.Leu264=)	TRIM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634298	NM_006074.5(TRIM22):c.798G>C (p.Lys266Asn)	TRIM22 (K262N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2555092	NM_006074.5(TRIM22):c.811T>C (p.Ser271Pro)	TRIM22 (S271P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3351544	NM_006074.5(TRIM22):c.857T>C (p.Met286Thr)	TRIM22 (M282T +1 more)	Single nucleotide variant (missense variant)	TRIM22-related disorder	GUncertain significance
Select item 3182291	NM_006074.5(TRIM22):c.866T>A (p.Val289Asp)	TRIM22 (V289D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688206	NM_006074.5(TRIM22):c.874+77T>C	TRIM22	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3328658	NM_006074.5(TRIM22):c.877C>A (p.Leu293Met)	TRIM22 (L289M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688061	NM_006074.5(TRIM22):c.902-35A>G	TRIM22	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2384908	NM_006074.5(TRIM22):c.967G>C (p.Val323Leu)	TRIM22 (V323L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461195	NM_006074.5(TRIM22):c.998A>T (p.Asn333Ile)	TRIM22 (N329I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182280	NM_006074.5(TRIM22):c.1055C>T (p.Ser352Leu)	TRIM22 (S348L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035256	NM_006074.5(TRIM22):c.1056G>A (p.Ser352=)	TRIM22	Single nucleotide variant (synonymous variant)	TRIM22-related disorder	GLikely benign
Select item 3035590	NM_006074.5(TRIM22):c.1075G>A (p.Val359Ile)	TRIM22 (V355I +1 more)	Single nucleotide variant (missense variant)	TRIM22-related disorder	GLikely benign
Select item 3328661	NM_006074.5(TRIM22):c.1115A>G (p.His372Arg)	TRIM22 (H372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239023	NM_006074.5(TRIM22):c.1203T>C (p.Tyr401=)	TRIM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3182283	NM_006074.5(TRIM22):c.1229T>C (p.Ile410Thr)	TRIM22 (I410T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475545	NM_006074.5(TRIM22):c.1318C>G (p.Pro440Ala)	TRIM22 (P440A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641542	NM_006074.5(TRIM22):c.1324C>T (p.Arg442Cys)	TRIM22, TRIM5 (R438C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2286699	NM_006074.5(TRIM22):c.1325G>A (p.Arg442His)	TRIM22 (R438H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182286	NM_006074.5(TRIM22):c.1340T>A (p.Leu447Gln)	TRIM22 (L447Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3461199	NM_006074.5(TRIM22):c.1346A>G (p.Tyr449Cys)	TRIM22 (Y445C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040589	NM_006074.5(TRIM22):c.1364C>A (p.Ser455Ter)	TRIM22 (S451* +1 more)	Single nucleotide variant (nonsense)	TRIM22-related disorder	GLikely benign
Select item 3392380	GRCh37/hg19 11p15.4(chr11:5488909-5719251)x1	OR52B6, OR52D1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2573338	GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3	HBB, HBE1 +25 more	Copy number gain	See cases	GLikely benign
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	APBB1, ARFIP2 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980413	GRCh37/hg19 11p15.4(chr11:5642000-5853662)x1	OR52N5, OR56B1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 815404	GRCh37/hg19 11p15.4(chr11:5505304-6199376)x3	TRIM5, OR56B4 +22 more	Copy number gain	not provided	GLikely benign
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 442099	GRCh37/hg19 11p15.4(chr11:5485210-5719251)x1	OR52B6, OR52D1 +7 more	Copy number loss	See cases	GLikely benign
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 73