ClinVar for Gene (Select 5394) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276829	NM_001001998.3(EXOSC10):c.13A>G (p.Ser5Gly)	EXOSC10, EXOSC10-AS1 (S5G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3276828	NM_001001998.3(EXOSC10):c.260T>A (p.Val87Glu)	EXOSC10 (V87E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276827	NM_001001998.3(EXOSC10):c.2110C>G (p.Pro704Ala)	EXOSC10 (P704A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276826	NM_001001998.3(EXOSC10):c.962G>C (p.Ser321Thr)	EXOSC10 (S321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276825	NM_001001998.3(EXOSC10):c.1726G>A (p.Ala576Thr)	EXOSC10 (A576T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276824	NM_001001998.3(EXOSC10):c.2449C>G (p.Pro817Ala)	EXOSC10 (P792A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276823	NM_001001998.3(EXOSC10):c.1291G>A (p.Glu431Lys)	EXOSC10 (E431K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276822	NM_001001998.3(EXOSC10):c.2614G>A (p.Gly872Arg)	EXOSC10 (G847R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247967	NC_000001.10:g.(?_11078770)_(11217368_?)dup	EXOSC10, MASP2 +3 more	Duplication	not provided	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3247909	NC_000001.10:g.(?_10710729)_(12030893_?)del	AGTRAP, FBXO6 +21 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3091190	NM_001001998.3(EXOSC10):c.445C>T (p.Pro149Ser)	EXOSC10 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091189	NM_001001998.3(EXOSC10):c.438G>T (p.Leu146Phe)	EXOSC10 (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091188	NM_001001998.3(EXOSC10):c.2596A>G (p.Ser866Gly)	EXOSC10 (S866G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091186	NM_001001998.3(EXOSC10):c.2273A>G (p.Lys758Arg)	EXOSC10 (K733R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091185	NM_001001998.3(EXOSC10):c.2041G>A (p.Ala681Thr)	EXOSC10 (A681T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091184	NM_001001998.3(EXOSC10):c.191G>A (p.Arg64Gln)	EXOSC10 (R64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091183	NM_001001998.3(EXOSC10):c.1768G>A (p.Val590Met)	EXOSC10 (V590M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091182	NM_001001998.3(EXOSC10):c.1681C>A (p.Leu561Ile)	EXOSC10 (L561I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091181	NM_001001998.3(EXOSC10):c.1390G>A (p.Val464Met)	EXOSC10 (V464M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091180	NM_001001998.3(EXOSC10):c.1373G>A (p.Arg458His)	EXOSC10 (R458H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091179	NM_001001998.3(EXOSC10):c.1237G>A (p.Val413Met)	EXOSC10 (V413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091178	NM_001001998.3(EXOSC10):c.1000C>T (p.Arg334Trp)	EXOSC10 (R334W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3024718	NM_001001998.3(EXOSC10):c.2157+7G>A	EXOSC10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638218	NM_001001998.3(EXOSC10):c.2143A>G (p.Thr715Ala)	EXOSC10 (T715A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2638217	NM_001001998.3(EXOSC10):c.2303G>A (p.Arg768Gln)	EXOSC10 (R743Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621773	NM_001001998.3(EXOSC10):c.2593A>C (p.Lys865Gln)	EXOSC10 (K840Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609745	NM_001001998.3(EXOSC10):c.1039A>G (p.Ser347Gly)	EXOSC10 (S347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590909	NM_001001998.3(EXOSC10):c.1831G>C (p.Asp611His)	EXOSC10 (D611H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570246	NM_001001998.3(EXOSC10):c.930T>G (p.Phe310Leu)	EXOSC10 (F310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528466	NM_001001998.3(EXOSC10):c.850G>C (p.Glu284Gln)	EXOSC10 (E284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520102	NM_001001998.3(EXOSC10):c.2240C>G (p.Thr747Arg)	EXOSC10 (T747R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513257	NM_001001998.3(EXOSC10):c.1975A>T (p.Thr659Ser)	EXOSC10 (T659S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477927	NM_001001998.3(EXOSC10):c.2504A>G (p.Lys835Arg)	EXOSC10 (K810R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476785	NM_001001998.3(EXOSC10):c.268T>G (p.Tyr90Asp)	EXOSC10 (Y90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474145	NM_001001998.3(EXOSC10):c.1804T>A (p.Leu602Met)	EXOSC10 (L602M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469821	NM_001001998.3(EXOSC10):c.697G>A (p.Val233Ile)	EXOSC10 (V233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462126	NM_001001998.3(EXOSC10):c.298C>G (p.Arg100Gly)	EXOSC10 (R100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458050	NM_001001998.3(EXOSC10):c.2299G>A (p.Val767Ile)	EXOSC10 (V742I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425520	NC_000001.10:g.(?_10698999)_(11907741_?)dup	AGTRAP, ANGPTL7 +18 more	Duplication	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2425278	NC_000001.10:g.(?_9770514)_(11264780_?)del	ANGPTL7, C1orf127 +20 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 2425245	NC_000001.10:g.(?_10753911)_(11854615_?)dup	AGTRAP, ANGPTL7 +16 more	Duplication	not provided	GUncertain significance
Select item 2401983	NM_001001998.3(EXOSC10):c.1484A>G (p.Tyr495Cys)	EXOSC10 (Y495C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385200	NM_001001998.3(EXOSC10):c.518G>A (p.Arg173Gln)	EXOSC10 (R173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385119	NM_001001998.3(EXOSC10):c.1423G>A (p.Asp475Asn)	EXOSC10 (D475N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383402	NM_001001998.3(EXOSC10):c.2642A>G (p.Asn881Ser)	EXOSC10 (N856S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377632	NM_001001998.3(EXOSC10):c.278G>T (p.Cys93Phe)	EXOSC10 (C93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363661	NM_001001998.3(EXOSC10):c.16A>G (p.Thr6Ala)	EXOSC10, EXOSC10-AS1 (T6A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2333811	NM_001001998.3(EXOSC10):c.127G>A (p.Val43Met)	EXOSC10 (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328480	NM_001001998.3(EXOSC10):c.904G>A (p.Glu302Lys)	EXOSC10 (E302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322739	NM_001001998.3(EXOSC10):c.1868T>C (p.Ile623Thr)	EXOSC10 (I623T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321381	NM_001001998.3(EXOSC10):c.2119C>G (p.Gln707Glu)	EXOSC10 (Q707E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311679	NM_001001998.3(EXOSC10):c.904G>C (p.Glu302Gln)	EXOSC10 (E302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297082	NM_001001998.3(EXOSC10):c.892G>A (p.Val298Met)	EXOSC10 (V298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274747	NM_001001998.3(EXOSC10):c.281G>A (p.Arg94His)	EXOSC10 (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269349	NM_001001998.3(EXOSC10):c.2555G>A (p.Cys852Tyr)	EXOSC10 (C852Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249829	NM_001001998.3(EXOSC10):c.406A>C (p.Lys136Gln)	EXOSC10 (K136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249537	NM_001001998.3(EXOSC10):c.1090G>A (p.Val364Ile)	EXOSC10 (V364I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225204	NM_001001998.3(EXOSC10):c.1046T>C (p.Met349Thr)	EXOSC10 (M349T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217832	NM_001001998.3(EXOSC10):c.1375G>A (p.Gly459Ser)	EXOSC10 (G459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 929342	GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1	ANGPTL7, EXOSC10 +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 830841	NC_000001.11:g.(?_11012634)_(11934865_?)del	AGTRAP, ANGPTL7 +19 more	Deletion	Atrial fibrillation, familial, 6	GUncertain significance
Select item 814055	GRCh37/hg19 1p36.22(chr1:11086990-11429365)x3	MTOR, UBIAD1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814054	GRCh37/hg19 1p36.22(chr1:10908411-11158092)x3	EXOSC10, C1orf127 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814053	GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	TARDBP, RBP7 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 786450	NM_001001998.3(EXOSC10):c.1029C>T (p.Leu343=)	EXOSC10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic

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