TRIP11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 314894	NM_004239.4(TRIP11):c.*1744G>A	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 887318	NM_004239.4(TRIP11):c.*1591G>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314895	NM_004239.4(TRIP11):c.*1554T>A	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 887319	NM_004239.4(TRIP11):c.*1521G>A	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314896	NM_004239.4(TRIP11):c.*1374A>C	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 314897	NM_004239.4(TRIP11):c.*1339dup	TRIP11	Duplication (3 prime UTR variant)	Achondrogenesis	GLikely benign
Select item 314898	NM_004239.4(TRIP11):c.*1339del	TRIP11	Deletion (3 prime UTR variant)	Achondrogenesis	GUncertain significance
Select item 314899	NM_004239.4(TRIP11):c.*1294A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 887505	NM_004239.4(TRIP11):c.*1212C>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314900	NM_004239.4(TRIP11):c.*1194A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 887506	NM_004239.4(TRIP11):c.*1185G>A	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 887507	NM_004239.4(TRIP11):c.*1175C>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314901	NM_004239.4(TRIP11):c.*1060C>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 314902	NM_004239.4(TRIP11):c.*952A>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 884356	NM_004239.4(TRIP11):c.*938A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314903	NM_004239.4(TRIP11):c.*930C>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 314904	NM_004239.4(TRIP11):c.*904A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314905	NM_004239.4(TRIP11):c.*891A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314906	NM_004239.4(TRIP11):c.*840A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 884357	NM_004239.4(TRIP11):c.*749G>A	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 884358	NM_004239.4(TRIP11):c.*664C>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 314907	NM_004239.4(TRIP11):c.*628C>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314908	NM_004239.4(TRIP11):c.*610A>C	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 314909	NM_004239.4(TRIP11):c.*544C>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314910	NM_004239.4(TRIP11):c.*491A>C	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314911	NM_004239.4(TRIP11):c.*430A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 314912	NM_004239.4(TRIP11):c.*409A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 886381	NM_004239.4(TRIP11):c.*387C>A	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 314913	NM_004239.4(TRIP11):c.*387del	TRIP11	Deletion (3 prime UTR variant)	Achondrogenesis	GLikely benign
Select item 314915	NM_004239.4(TRIP11):c.*383dup	TRIP11	Duplication (3 prime UTR variant)	Achondrogenesis	GUncertain significance
Select item 314914	NM_004239.4(TRIP11):c.*384A>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314916	NM_004239.4(TRIP11):c.*383del	TRIP11	Deletion (3 prime UTR variant)	Achondrogenesis	GUncertain significance
Select item 314917	NM_004239.4(TRIP11):c.*362C>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314918	NM_004239.4(TRIP11):c.*345T>C	TRIP11	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314919	NM_004239.4(TRIP11):c.*312A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 887375	NM_004239.4(TRIP11):c.*297A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314920	NM_004239.4(TRIP11):c.*290A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GLikely benign
Select item 887376	NM_004239.4(TRIP11):c.*288C>A	TRIP11	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 887377	NM_004239.4(TRIP11):c.*273A>C	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314921	NM_004239.4(TRIP11):c.*246A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GBenign
Select item 314922	NM_004239.4(TRIP11):c.*163C>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 887571	NM_004239.4(TRIP11):c.*162G>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 887572	NM_004239.4(TRIP11):c.*107C>T	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314923	NM_004239.4(TRIP11):c.*100A>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 314924	NM_004239.4(TRIP11):c.*9C>G	TRIP11	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IA	GUncertain significance
Select item 289662	NM_004239.4(TRIP11):c.5937A>G (p.Gln1979=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1554654	NM_004239.4(TRIP11):c.5922A>G (p.Lys1974=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 1473435	NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser)	TRIP11 (N1966S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 2307460	NM_004239.4(TRIP11):c.5893C>G (p.Pro1965Ala)	TRIP11 (P1964A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721660	NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1956116	NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val)	TRIP11 (A1962V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 426917	NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr)	TRIP11 (A1963T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2414138	NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu)	TRIP11 (P1961L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2811996	NM_004239.4(TRIP11):c.5838T>C (p.Leu1946=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 314925	NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA +1 more	GConflicting classifications of pathogenicity
Select item 1695689	NM_004239.4(TRIP11):c.5818C>A (p.Pro1940Thr)	TRIP11 (P1939T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 314926	NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GConflicting classifications of pathogenicity
Select item 1626974	NM_004239.4(TRIP11):c.5805A>G (p.Pro1935=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 314927	NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA +3 more	GBenign
Select item 314928	NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His)	TRIP11 (R1926H +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 1436039	NM_004239.4(TRIP11):c.5776C>T (p.Arg1926Cys)	TRIP11 (R1925C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2733115	NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)	TRIP11 (P1920L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2044836	NM_004239.4(TRIP11):c.5754T>C (p.Asp1918=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2748881	NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)	TRIP11	Microsatellite (inframe_insertion)	Achondrogenesis, type IA	GUncertain significance
Select item 1521684	NM_004239.4(TRIP11):c.5729A>T (p.Glu1910Val)	TRIP11 (E1910V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 836694	NM_004239.4(TRIP11):c.5720-5T>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GUncertain significance
Select item 1218744	NM_004239.4(TRIP11):c.5720-26G>A	TRIP11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223573	NM_004239.4(TRIP11):c.5720-72_5720-69dup	TRIP11	Duplication (intron variant)	not provided	GLikely benign
Select item 1183400	NM_004239.4(TRIP11):c.5720-70_5720-69insTATG	TRIP11	Insertion (intron variant)	not provided	GBenign
Select item 1208639	NM_004239.4(TRIP11):c.5720-73A>G	TRIP11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275951	NM_004239.4(TRIP11):c.5720-176A>G	TRIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231578	NM_004239.4(TRIP11):c.5720-279A>G	TRIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201814	NM_004239.4(TRIP11):c.5720-289C>T	TRIP11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264212	NM_004239.4(TRIP11):c.5720-343C>T	TRIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667815	NM_004239.4(TRIP11):c.5719+314T>C	TRIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196321	NM_004239.4(TRIP11):c.5719+261C>A	TRIP11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214078	NM_004239.4(TRIP11):c.5719+260T>A	TRIP11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216680	NM_004239.4(TRIP11):c.5719+181C>T	TRIP11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212316	NM_004239.4(TRIP11):c.5719+148_5719+168del	TRIP11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2807798	NM_004239.4(TRIP11):c.5719+13A>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 505515	NM_004239.4(TRIP11):c.5719+2T>C	TRIP11	Single nucleotide variant (splice donor variant)	not specified +2 more	GUncertain significance
Select item 2437321	NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)	TRIP11 (P1887L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884421	NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)	TRIP11 (M1886T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA +1 more	GUncertain significance
Select item 314929	NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg)	TRIP11 (H1884R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 994324	NM_004239.4(TRIP11):c.5645C>A (p.Ser1882Tyr)	TRIP11 (S1881Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602541	NM_004239.4(TRIP11):c.5637A>G (p.Pro1879=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 884422	NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu)	TRIP11 (P1876L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 449194	NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)	TRIP11 (P1877T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 884423	NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GConflicting classifications of pathogenicity
Select item 2056373	NM_004239.4(TRIP11):c.5575-1G>A	TRIP11	Single nucleotide variant (splice acceptor variant)	Achondrogenesis, type IA	GLikely pathogenic
Select item 1217109	NM_004239.4(TRIP11):c.5575-64T>G	TRIP11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253154	NM_004239.4(TRIP11):c.5575-182dup	TRIP11	Duplication (intron variant)	not provided	GBenign
Select item 1192032	NM_004239.4(TRIP11):c.5575-182_5575-181dup	TRIP11	Duplication (intron variant)	not provided	GLikely benign

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