UBXN11[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2494421	NM_001389556.1(UBXN11):c.1492G>A (p.Gly498Ser)	UBXN11 (G378S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231266	NM_001389556.1(UBXN11):c.1477C>A (p.Pro493Thr)	UBXN11 (P493T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409597	NM_001389556.1(UBXN11):c.1358C>G (p.Thr453Arg)	UBXN11 (T333R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609620	NM_001389556.1(UBXN11):c.1294G>T (p.Val432Phe)	UBXN11 (V399F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513296	NM_001389556.1(UBXN11):c.1255A>G (p.Thr419Ala)	UBXN11 (T419A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265243	NM_001389556.1(UBXN11):c.1198C>T (p.Arg400Cys)	UBXN11 (R400C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307227	NM_001389556.1(UBXN11):c.1141G>A (p.Glu381Lys)	UBXN11 (E348K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472324	NM_001389556.1(UBXN11):c.1124C>T (p.Thr375Met)	UBXN11 (T342M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267303	NM_001389556.1(UBXN11):c.1099C>T (p.Arg367Trp)	UBXN11 (R367W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218461	NM_001389556.1(UBXN11):c.1009C>A (p.Leu337Ile)	UBXN11 (L217I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238411	NM_001389556.1(UBXN11):c.937A>G (p.Met313Val)	UBXN11 (M313V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509115	NM_001389556.1(UBXN11):c.800G>A (p.Gly267Asp)	UBXN11 (G147D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623743	NM_001389556.1(UBXN11):c.785G>A (p.Arg262Gln)	UBXN11 (R142Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600779	NM_001389556.1(UBXN11):c.683G>A (p.Arg228His)	UBXN11 (R108H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2324980	NM_001389556.1(UBXN11):c.682C>T (p.Arg228Cys)	UBXN11 (R195C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400866	NM_001389556.1(UBXN11):c.351C>G (p.His117Gln)	UBXN11 (H84Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479640	NM_001389556.1(UBXN11):c.317C>G (p.Ala106Gly)	UBXN11 (A73G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281290	NM_001389556.1(UBXN11):c.193C>T (p.Arg65Trp)	UBXN11 (R65W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363011	NM_001389556.1(UBXN11):c.53C>T (p.Ser18Leu)	LOC126805669, UBXN11 (S18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057395	NM_001803.3(CD52):c.12C>T (p.Phe4=)	UBXN11, CD52 +1 more	Single nucleotide variant (synonymous variant +1 more)	CD52-related condition	GLikely benign
Select item 2459659	NM_001803.3(CD52):c.43G>C (p.Val15Leu)	CD52, LOC129929813 +1 more (V15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237260	NM_001803.3(CD52):c.49G>C (p.Val17Leu)	CD52, LOC129929813 +1 more (V17L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 687260	GRCh37/hg19 1p36.11(chr1:26603699-26903828)x3	CD52, CEP85 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 31