ClinVar for Gene (Select 23087) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328711	NM_171982.5(TRIM35):c.26C>T (p.Pro9Leu)	PTK2B, TRIM35 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328710	NM_171982.5(TRIM35):c.1405G>A (p.Ala469Thr)	TRIM35 (A469T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3328709	NM_171982.5(TRIM35):c.1069G>C (p.Ala357Pro)	TRIM35 (A357P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182398	NM_171982.5(TRIM35):c.643C>G (p.Gln215Glu)	TRIM35 (Q183E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182397	NM_171982.5(TRIM35):c.445A>G (p.Arg149Gly)	TRIM35 (R149G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182396	NM_171982.5(TRIM35):c.433C>T (p.Arg145Trp)	LOC130000066, PTK2B +1 more (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182394	NM_171982.5(TRIM35):c.259G>A (p.Ala87Thr)	PTK2B, TRIM35 (A87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182393	NM_171982.5(TRIM35):c.1438A>G (p.Ile480Val)	TRIM35 (I480V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182392	NM_171982.5(TRIM35):c.1414G>A (p.Ala472Thr)	TRIM35 (A472T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182391	NM_171982.5(TRIM35):c.1406C>T (p.Ala469Val)	TRIM35 (A469V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182390	NM_171982.5(TRIM35):c.1279C>T (p.Arg427Cys)	TRIM35 (R427C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3182389	NM_171982.5(TRIM35):c.1013G>A (p.Arg338His)	TRIM35 (R338H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
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 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	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 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2622785	NM_171982.5(TRIM35):c.927C>A (p.Asn309Lys)	TRIM35 (N309K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621912	NM_171982.5(TRIM35):c.1170C>A (p.His390Gln)	TRIM35 (H390Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2598109	NM_171982.5(TRIM35):c.1198T>G (p.Cys400Gly)	TRIM35 (C400G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2569939	NM_171982.5(TRIM35):c.1205C>G (p.Thr402Arg)	TRIM35 (T402R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545156	NM_171982.5(TRIM35):c.1171G>T (p.Asp391Tyr)	TRIM35 (D391Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2528866	NM_171982.5(TRIM35):c.1243C>T (p.Pro415Ser)	TRIM35 (P415S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525528	NM_171982.5(TRIM35):c.8G>A (p.Arg3Gln)	PTK2B, TRIM35 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486798	NM_171982.5(TRIM35):c.467G>A (p.Arg156Gln)	TRIM35 (R156Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484236	NM_171982.5(TRIM35):c.626T>C (p.Met209Thr)	TRIM35 (M177T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480608	NM_171982.5(TRIM35):c.965C>G (p.Thr322Ser)	TRIM35 (T322S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464945	NM_171982.5(TRIM35):c.1205C>T (p.Thr402Met)	TRIM35 (T402M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2460440	NM_171982.5(TRIM35):c.157G>T (p.Val53Leu)	LOC130000067, PTK2B +1 more (V53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459670	NM_171982.5(TRIM35):c.421G>A (p.Ala141Thr)	LOC130000066, PTK2B +1 more (A141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410522	NM_171982.5(TRIM35):c.1142C>T (p.Ala381Val)	TRIM35 (A381V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2403547	NM_171982.5(TRIM35):c.1121G>A (p.Arg374His)	TRIM35 (R374H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402940	NM_171982.5(TRIM35):c.584G>A (p.Arg195His)	TRIM35 (R163H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396338	NM_171982.5(TRIM35):c.1435C>T (p.Arg479Cys)	TRIM35 (R479C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2392787	NM_171982.5(TRIM35):c.1213G>A (p.Val405Met)	TRIM35 (V405M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2382201	NM_171982.5(TRIM35):c.17A>G (p.Asp6Gly)	PTK2B, TRIM35 (D6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378753	NM_171982.5(TRIM35):c.1288G>T (p.Val430Leu)	TRIM35 (V430L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2370930	NM_171982.5(TRIM35):c.305G>A (p.Arg102His)	LOC130000066, PTK2B +1 more (R102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365729	NM_171982.5(TRIM35):c.1127G>A (p.Arg376His)	TRIM35 (R376H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343272	NM_171982.5(TRIM35):c.1064C>T (p.Ser355Leu)	TRIM35 (S355L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341233	NM_171982.5(TRIM35):c.1354A>G (p.Thr452Ala)	TRIM35 (T452A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2329839	NM_171982.5(TRIM35):c.443G>T (p.Cys148Phe)	TRIM35 (C148F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325190	NM_171982.5(TRIM35):c.1238C>T (p.Ser413Leu)	TRIM35 (S413L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2293362	NM_171982.5(TRIM35):c.500G>A (p.Arg167His)	TRIM35 (R167H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287141	NM_171982.5(TRIM35):c.771G>T (p.Lys257Asn)	TRIM35 (K257N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280649	NM_171982.5(TRIM35):c.188G>A (p.Arg63His)	LOC130000067, PTK2B +1 more (R63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275106	NM_171982.5(TRIM35):c.747C>A (p.Asp249Glu)	TRIM35 (D249E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269537	NM_171982.5(TRIM35):c.1202G>A (p.Arg401His)	TRIM35 (R401H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257496	NM_171982.5(TRIM35):c.563G>A (p.Arg188Gln)	TRIM35 (R156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253908	NM_171982.5(TRIM35):c.664G>A (p.Glu222Lys)	TRIM35 (E222K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225954	NM_171982.5(TRIM35):c.1069G>A (p.Ala357Thr)	TRIM35 (A357T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1808101	GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3	CCDC25, CHRNA2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic
Select item 785246	NM_171982.5(TRIM35):c.630C>T (p.Ala210=)	TRIM35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773402	NM_171982.5(TRIM35):c.363C>T (p.Cys121=)	LOC130000066, PTK2B +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 686202	GRCh37/hg19 8p21.2(chr8:27039099-27150168)x3	STMN4, TRIM35	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	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 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 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 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 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
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 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 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic

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