TRIM68[gene] - ClinVar

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Items: 76

	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 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 3182750	NM_018073.8(TRIM68):c.1453G>T (p.Asp485Tyr)	TRIM68 (D262Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328916	NM_018073.8(TRIM68):c.1369C>A (p.Arg457Ser)	TRIM68 (R457S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250009	NM_018073.8(TRIM68):c.1348C>T (p.Pro450Ser)	TRIM68 (P227S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554394	NM_018073.8(TRIM68):c.1312A>C (p.Asn438His)	TRIM68 (N215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182748	NM_018073.8(TRIM68):c.1295A>G (p.His432Arg)	TRIM68 (H209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616408	NM_018073.8(TRIM68):c.1282G>A (p.Asp428Asn)	TRIM68 (D205N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182747	NM_018073.8(TRIM68):c.1279G>A (p.Val427Met)	TRIM68 (V204M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182746	NM_018073.8(TRIM68):c.1262G>T (p.Arg421Leu)	TRIM68 (R198L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299347	NM_018073.8(TRIM68):c.1248G>T (p.Leu416Phe)	TRIM68 (L193F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182745	NM_018073.8(TRIM68):c.1181G>C (p.Trp394Ser)	TRIM68 (W171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394117	NM_018073.8(TRIM68):c.1157A>G (p.Tyr386Cys)	TRIM68 (Y163C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523681	NM_018073.8(TRIM68):c.1156T>A (p.Tyr386Asn)	TRIM68 (Y386N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342715	NM_018073.8(TRIM68):c.1148A>T (p.Glu383Val)	TRIM68 (E383V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324765	NM_018073.8(TRIM68):c.1108T>C (p.Trp370Arg)	TRIM68 (W147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525085	NM_018073.8(TRIM68):c.1076A>G (p.Tyr359Cys)	TRIM68 (Y136C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352323	NM_018073.8(TRIM68):c.1070G>A (p.Arg357Gln)	TRIM68 (R134Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182744	NM_018073.8(TRIM68):c.1069C>T (p.Arg357Trp)	TRIM68 (R134W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271934	NM_018073.8(TRIM68):c.1059C>G (p.Ile353Met)	TRIM68 (I130M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182743	NM_018073.8(TRIM68):c.1028G>A (p.Arg343His)	TRIM68 (R120H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540932	NM_018073.8(TRIM68):c.1008C>G (p.Asp336Glu)	TRIM68 (D113E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409804	NM_018073.8(TRIM68):c.977A>G (p.His326Arg)	TRIM68 (H103R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466655	NM_018073.8(TRIM68):c.976C>T (p.His326Tyr)	TRIM68 (H326Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456543	NM_018073.8(TRIM68):c.971G>A (p.Arg324His)	TRIM68 (R101H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390898	NM_018073.8(TRIM68):c.944G>A (p.Arg315His)	TRIM68 (R92H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182762	NM_018073.8(TRIM68):c.917G>A (p.Arg306His)	TRIM68 (R83H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517745	NM_018073.8(TRIM68):c.916C>T (p.Arg306Cys)	TRIM68 (R83C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182761	NM_018073.8(TRIM68):c.899C>A (p.Thr300Asn)	TRIM68 (T300N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477880	NM_018073.8(TRIM68):c.842T>C (p.Ile281Thr)	TRIM68 (I281T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182760	NM_018073.8(TRIM68):c.827A>G (p.Gln276Arg)	TRIM68 (Q53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182759	NM_018073.8(TRIM68):c.776T>C (p.Met259Thr)	TRIM68 (M259T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547079	NM_018073.8(TRIM68):c.718G>T (p.Val240Phe)	TRIM68 (V17F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332693	NM_018073.8(TRIM68):c.652C>T (p.Arg218Trp)	TRIM68 (R218W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182758	NM_018073.8(TRIM68):c.635C>G (p.Ala212Gly)	TRIM68 (A212G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388018	NM_018073.8(TRIM68):c.608G>A (p.Arg203Gln)	TRIM68 (R203Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2538684	NM_018073.8(TRIM68):c.605A>T (p.His202Leu)	TRIM68 (H202L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182756	NM_018073.8(TRIM68):c.601C>G (p.Pro201Ala)	TRIM68 (P201A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341646	NM_018073.8(TRIM68):c.539G>A (p.Arg180Gln)	TRIM68 (R180Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182754	NM_018073.8(TRIM68):c.450A>T (p.Glu150Asp)	TRIM68 (E150D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2604039	NM_018073.8(TRIM68):c.405G>C (p.Glu135Asp)	TRIM68 (E135D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182753	NM_018073.8(TRIM68):c.277C>A (p.Leu93Met)	TRIM68 (L93M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182752	NM_018073.8(TRIM68):c.260T>C (p.Leu87Pro)	TRIM68 (L87P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381577	NM_018073.8(TRIM68):c.230A>G (p.Asn77Ser)	TRIM68 (N77S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3182751	NM_018073.8(TRIM68):c.161G>T (p.Gly54Val)	TRIM68 (G54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328917	NM_018073.8(TRIM68):c.149C>A (p.Ser50Tyr)	TRIM68 (S50Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182749	NM_018073.8(TRIM68):c.143G>T (p.Gly48Val)	TRIM68 (G48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182757	NM_018073.8(TRIM68):c.62C>T (p.Thr21Ile)	TRIM68 (T21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472696	NM_018073.8(TRIM68):c.5A>G (p.Asp2Gly)	TRIM68 (D2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182755	NM_018073.8(TRIM68):c.4G>T (p.Asp2Tyr)	TRIM68 (D2Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684634	GRCh37/hg19 11p15.4(chr11:4376571-4623788)x3	C11orf40, OR52B4 +7 more	Copy number gain	not provided	GUncertain significance
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 1807596	GRCh37/hg19 11p15.4(chr11:4384773-4681230)x3	C11orf40, OR51D1 +9 more	Copy number gain	not provided	GUncertain significance
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 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
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 980412	GRCh37/hg19 11p15.4(chr11:4388904-4639840)x3	C11orf40, OR52B4 +7 more	Copy number gain	not provided	GUncertain significance
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 442143	GRCh37/hg19 11p15.4(chr11:4364896-4926365)x3	C11orf40, OR51D1 +15 more	Copy number gain	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 441732	GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	ART1, ART5 +17 more	Copy number gain	See cases	GLikely benign
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 402124	GRCh37/hg19 11p15.4(chr11:4387760-4840438)x3	C11orf40, OR51D1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 253777	GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1	C11orf40, OR51D1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 226252	GRCh37/hg19 11p15.4(chr11:4371631-5253127)	OR51G2, OR51L1 +28 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic

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Items: 76