ClinVar for Gene (Select 127733) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330736	NM_152376.5(UBXN10):c.130G>A (p.Gly44Arg)	UBXN10 (G44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330735	NM_152376.5(UBXN10):c.743G>A (p.Arg248Lys)	UBXN10 (R248K)	Single nucleotide variant (missense variant)	not specified	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 3185905	NM_152376.5(UBXN10):c.688C>G (p.Gln230Glu)	UBXN10 (Q230E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185904	NM_152376.5(UBXN10):c.425T>C (p.Leu142Pro)	UBXN10 (L142P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185903	NM_152376.5(UBXN10):c.151C>G (p.Gln51Glu)	UBXN10 (Q51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
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 2604572	NM_152376.5(UBXN10):c.751T>A (p.Phe251Ile)	UBXN10 (F251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601450	NM_152376.5(UBXN10):c.764C>T (p.Thr255Ile)	UBXN10 (T255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522758	NM_152376.5(UBXN10):c.178G>A (p.Ala60Thr)	UBXN10 (A60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520669	NM_152376.5(UBXN10):c.260C>A (p.Ser87Tyr)	UBXN10 (S87Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474563	NM_152376.5(UBXN10):c.647G>A (p.Arg216Gln)	UBXN10 (R216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472519	NM_152376.5(UBXN10):c.101T>C (p.Met34Thr)	UBXN10 (M34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455563	NM_152376.5(UBXN10):c.813C>G (p.Ile271Met)	UBXN10 (I271M)	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 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2410939	NM_152376.5(UBXN10):c.782G>T (p.Cys261Phe)	UBXN10 (C261F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404616	NM_152376.5(UBXN10):c.476G>A (p.Ser159Asn)	UBXN10 (S159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351636	NM_152376.5(UBXN10):c.262C>T (p.Pro88Ser)	UBXN10 (P88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349246	NM_152376.5(UBXN10):c.454G>A (p.Glu152Lys)	UBXN10 (E152K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342053	NM_152376.5(UBXN10):c.437G>A (p.Arg146Gln)	UBXN10 (R146Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334390	NM_152376.5(UBXN10):c.746G>A (p.Arg249Lys)	UBXN10 (R249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333058	NM_152376.5(UBXN10):c.742A>T (p.Arg248Trp)	UBXN10 (R248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243772	NM_152376.5(UBXN10):c.508G>A (p.Val170Met)	UBXN10 (V170M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240858	NM_152376.5(UBXN10):c.164G>A (p.Gly55Asp)	UBXN10 (G55D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265956	NM_152376.5(UBXN10):c.103_123dup (p.His35_Ser41dup)	UBXN10	Duplication (inframe_insertion)	not provided	GBenign
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 814062	GRCh37/hg19 1p36.13-36.12(chr1:20100416-20549013)x3	PLA2G2F, PLA2G5 +8 more	Copy number gain	not provided	GUncertain significance
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 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 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41