UBXN2A[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 148077	GRCh38/hg38 2p24.1-23.3(chr2:23789282-24087112)x1	ATAD2B, FAM228B +19 more	Copy number loss	See cases	GUncertain significance
Select item 2474740	NM_181713.4(UBXN2A):c.43G>A (p.Val15Ile)	UBXN2A (V15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324172	NM_181713.4(UBXN2A):c.56G>T (p.Gly19Val)	UBXN2A (G19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370387	NM_181713.4(UBXN2A):c.91T>C (p.Ser31Pro)	UBXN2A (S31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472040	NM_181713.4(UBXN2A):c.94A>T (p.Asn32Tyr)	UBXN2A (N32Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376279	NM_181713.4(UBXN2A):c.163G>A (p.Ala55Thr)	UBXN2A (A55T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272843	NM_181713.4(UBXN2A):c.334G>A (p.Asp112Asn)	UBXN2A (D112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345913	NM_181713.4(UBXN2A):c.337G>A (p.Val113Ile)	UBXN2A (V113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185913	NM_181713.4(UBXN2A):c.376A>G (p.Thr126Ala)	UBXN2A (T126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185914	NM_181713.4(UBXN2A):c.377C>T (p.Thr126Met)	UBXN2A (T126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305734	NM_181713.4(UBXN2A):c.383C>T (p.Pro128Leu)	UBXN2A (P128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255108	NM_181713.4(UBXN2A):c.466G>A (p.Val156Ile)	UBXN2A (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330740	NM_181713.4(UBXN2A):c.574A>T (p.Ile192Phe)	UBXN2A (I192F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324293	NM_181713.4(UBXN2A):c.581A>G (p.His194Arg)	UBXN2A (H194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185915	NM_181713.4(UBXN2A):c.764A>G (p.Glu255Gly)	UBXN2A (E255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 1808931	GRCh37/hg19 2p24.1-23.3(chr2:23908436-24636185)x3	ATAD2B, FAM228A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1686655	GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1	FAM228A, FAM228B +19 more	Copy number loss	2p24.1p23.3 microdeletion syndrome	GPathogenic
Select item 562668	GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1	APOB, ATAD2B +22 more	Copy number loss	not provided	GPathogenic
Select item 562549	GRCh37/hg19 2p23.3(chr2:24058035-24283976)x1	FKBP1B, UBXN2A +3 more	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 33