NUP54[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 57365	GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1	ART3, CXCL10 +16 more	Copy number loss	See cases	GUncertain significance
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 2385552	NM_017426.4(NUP54):c.1510G>A (p.Gly504Ser)	NUP54 (G504S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572662	NM_017426.4(NUP54):c.1420C>T (p.Leu474Phe)	NUP54 (L426F)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2572661	NM_017426.4(NUP54):c.1414G>A (p.Glu472Lys)	NUP54 (E424K)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2506594	NM_017426.4(NUP54):c.[1414G>A;1420C>T]	NUP54 (E424K +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 37, early-onset, with striatal lesions	GPathogenic
Select item 2506593	NM_017426.4(NUP54):c.1404ACA[2] (p.Gln471del)	NUP54 (Q423del +1 more)	Microsatellite (inframe_deletion +1 more)	Dystonia 37, early-onset, with striatal lesions	GPathogenic
Select item 2506592	NM_017426.4(NUP54):c.1126A>G (p.Lys376Glu)	NUP54 (K376E +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 37, early-onset, with striatal lesions	GPathogenic
Select item 3203212	NM_017426.4(NUP54):c.1112A>G (p.Lys371Arg)	NUP54 (K371R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506591	NM_017426.4(NUP54):c.1073T>G (p.Ile358Ser)	NUP54 (I358S +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 37, early-onset, with striatal lesions	GPathogenic
Select item 2610153	NM_017426.4(NUP54):c.1072A>G (p.Ile358Val)	NUP54 (I310V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203217	NM_017426.4(NUP54):c.979A>G (p.Met327Val)	NUP54 (M279V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203216	NM_017426.4(NUP54):c.810A>G (p.Ile270Met)	NUP54 (I222M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301575	NM_017426.4(NUP54):c.806A>G (p.Asn269Ser)	NUP54 (N269S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303210	NM_017426.4(NUP54):c.802G>A (p.Ala268Thr)	NUP54 (A220T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2379259	NM_017426.4(NUP54):c.595G>A (p.Glu199Lys)	NUP54 (E151K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203215	NM_017426.4(NUP54):c.558T>G (p.Asp186Glu)	NUP54 (D186E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515233	NM_017426.4(NUP54):c.423G>C (p.Trp141Cys)	NUP54 (W141C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318399	NM_017426.4(NUP54):c.209C>G (p.Thr70Arg)	NUP54 (T70R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203213	NM_017426.4(NUP54):c.146C>G (p.Thr49Ser)	NUP54 (T49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336494	NM_017426.4(NUP54):c.86G>A (p.Gly29Glu)	NUP54 (G29E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327789	NM_017426.4(NUP54):c.59C>A (p.Ala20Asp)	NUP54 (A20D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203214	NM_017426.4(NUP54):c.40A>G (p.Thr14Ala)	NUP54 (T14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547560	NM_017426.4(NUP54):c.22C>T (p.Pro8Ser)	LOC129992689, NUP54 (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067935	NM_017426.4(NUP54):c.17G>T (p.Gly6Val)	LOC129992689, NUP54 (G6V)	Single nucleotide variant (missense variant +1 more)	Dystonia 37, early-onset, with striatal lesions	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1808146	GRCh37/hg19 4q21.1(chr4:76872306-77038327)x1	ART3, CXCL10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980096	GRCh37/hg19 4q21.1(chr4:76998519-77433888)x3	STBD1, NUP54 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980095	GRCh37/hg19 4q21.1(chr4:77029893-77105624)x1	NUP54, SCARB2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 50