ClinVar for Gene (Select 23190) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330749	NM_014607.4(UBXN4):c.329G>A (p.Arg110Gln)	UBXN4 (R110Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330747	NM_014607.4(UBXN4):c.907G>A (p.Ala303Thr)	UBXN4 (A303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330746	NM_014607.4(UBXN4):c.1141C>G (p.Leu381Val)	UBXN4 (L381V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330745	NM_014607.4(UBXN4):c.845G>A (p.Arg282His)	UBXN4 (R282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330744	NM_014607.4(UBXN4):c.321C>A (p.His107Gln)	UBXN4 (H107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185919	NM_014607.4(UBXN4):c.1429G>A (p.Asp477Asn)	UBXN4 (D477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185918	NM_014607.4(UBXN4):c.1093A>G (p.Met365Val)	UBXN4 (M365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062609	GRCh37/hg19 2q21.3-22.1(chr2:136445987-137460731)x3	CXCR4, DARS1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 2617581	NM_014607.4(UBXN4):c.448A>G (p.Arg150Gly)	UBXN4 (R150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615408	NM_014607.4(UBXN4):c.1088C>T (p.Ala363Val)	UBXN4 (A363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593064	NM_014607.4(UBXN4):c.722A>G (p.Lys241Arg)	UBXN4 (K241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570001	NM_014607.4(UBXN4):c.1213C>T (p.His405Tyr)	UBXN4 (H405Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538789	NM_014607.4(UBXN4):c.499A>G (p.Thr167Ala)	UBXN4 (T167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528440	NM_014607.4(UBXN4):c.1396G>A (p.Val466Met)	UBXN4 (V466M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513174	NM_014607.4(UBXN4):c.1297T>A (p.Leu433Met)	UBXN4 (L433M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485647	NM_014607.4(UBXN4):c.539C>T (p.Ser180Phe)	UBXN4 (S180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463659	NM_014607.4(UBXN4):c.1394C>T (p.Pro465Leu)	UBXN4 (P465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424679	NC_000002.11:g.(?_135809878)_(136875630_?)del	CXCR4, DARS1 +7 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
Select item 2371134	NM_014607.4(UBXN4):c.299A>G (p.Asp100Gly)	UBXN4 (D100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338057	NM_014607.4(UBXN4):c.370G>A (p.Gly124Ser)	UBXN4 (G124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335020	NM_014607.4(UBXN4):c.823G>A (p.Asp275Asn)	UBXN4 (D275N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309739	NM_014607.4(UBXN4):c.943G>C (p.Glu315Gln)	UBXN4 (E315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305953	NM_014607.4(UBXN4):c.785G>A (p.Arg262Lys)	UBXN4 (R262K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303961	NM_014607.4(UBXN4):c.1408G>C (p.Val470Leu)	UBXN4 (V470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295020	NM_014607.4(UBXN4):c.460C>T (p.Leu154Phe)	UBXN4 (L154F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291215	NM_014607.4(UBXN4):c.177T>A (p.Asp59Glu)	UBXN4 (D59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284131	NM_014607.4(UBXN4):c.22A>G (p.Ile8Val)	LOC107985946, LOC129934839 +1 more (I8V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2271871	NM_014607.4(UBXN4):c.1376A>G (p.Lys459Arg)	UBXN4 (K459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220463	NM_014607.4(UBXN4):c.1108G>A (p.Glu370Lys)	UBXN4 (E370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215156	NM_014607.4(UBXN4):c.959C>G (p.Ala320Gly)	UBXN4 (A320G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213263	NM_014607.4(UBXN4):c.1313C>T (p.Pro438Leu)	UBXN4 (P438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	RIF1, RND3 +28 more	Copy number gain	Strabismus +2 more	GPathogenic
Select item 688634	GRCh37/hg19 2q21.3-22.1(chr2:135712129-137818795)x3	CCNT2, CXCR4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686222	GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1	ACMSD, CCNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 45