UCP2[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144545	GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3	C2CD3, COA4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152835	GRCh38/hg38 11q13.4(chr11:73859172-73977160)x3	COA4, DNAJB13 +11 more	Copy number gain	See cases	GUncertain significance
Select item 157207	NM_001267803.1(PAAF1):c.451_70114dup	LOC130006402, DNAJB13 +8 more	Duplication	Preeclampsia	Gnot provided
Select item 1336349	NM_003355.3(UCP2):c.*2C>G	UCP2	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 2443291	NM_003355.3(UCP2):c.864C>T (p.Phe288=)	UCP2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2299823	NM_003355.3(UCP2):c.853G>A (p.Val285Met)	UCP2 (V220M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212542	NM_003355.3(UCP2):c.816-2A>G	UCP2	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GUncertain significance
Select item 757102	NM_003355.3(UCP2):c.816-10T>G	UCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990457	NM_003355.3(UCP2):c.816-15A>T	UCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2030630	NM_003355.3(UCP2):c.816-16G>A	UCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991356	NM_003355.3(UCP2):c.815+3G>T	UCP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2593027	NM_003355.3(UCP2):c.808T>C (p.Tyr270His)	UCP2 (Y205H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677457	NM_003355.3(UCP2):c.806T>C (p.Phe269Ser)	UCP2 (F204S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 437198	NM_003355.3(UCP2):c.803C>G (p.Ala268Gly)	UCP2 (A268G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1337658	NM_003355.3(UCP2):c.800G>A (p.Arg267Gln)	UCP2 (R202Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338586	NM_003355.3(UCP2):c.799C>T (p.Arg267Ter)	UCP2 (R202* +2 more)	Single nucleotide variant (nonsense)	Body mass index quantitative trait locus 4 +1 more	GUncertain significance
Select item 3185988	NM_003355.3(UCP2):c.794G>T (p.Gly265Val)	UCP2 (G231V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 130696	NM_003355.3(UCP2):c.750C>T (p.Tyr250=)	UCP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1910571	NM_003355.3(UCP2):c.713T>A (p.Val238Asp)	UCP2 (V173D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2310652	NM_003355.3(UCP2):c.688G>C (p.Val230Leu)	UCP2 (V165L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1162782	NM_003355.3(UCP2):c.685A>G (p.Thr229Ala)	UCP2 (T164A +2 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 2	GLikely benign
Select item 2977529	NM_003355.3(UCP2):c.635-9C>G	UCP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1182647	NM_003355.3(UCP2):c.635-146_635-144del	UCP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1987645	NM_003355.3(UCP2):c.634+18C>T	UCP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2271315	NM_003355.3(UCP2):c.623A>G (p.Asn208Ser)	UCP2 (N143S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373371	NM_003355.3(UCP2):c.595C>T (p.Leu199Phe)	UCP2 (L134F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 130695	NM_003355.3(UCP2):c.582G>A (p.Leu194=)	UCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3185986	NM_003355.3(UCP2):c.569A>G (p.Asn190Ser)	UCP2 (N125S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2189330	NM_003355.3(UCP2):c.557A>G (p.Asn186Ser)	UCP2 (N121S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3330784	NM_003355.3(UCP2):c.535A>T (p.Thr179Ser)	UCP2 (T114S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437201	NM_003355.3(UCP2):c.533-10C>T	UCP2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2379446	NM_003355.3(UCP2):c.518G>A (p.Arg173Gln)	UCP2 (R173Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2690414	NM_003355.3(UCP2):c.517C>T (p.Arg173Trp)	UCP2 (R173W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899580	NM_003355.3(UCP2):c.513G>T (p.Gly171=)	UCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3185985	NM_003355.3(UCP2):c.511G>A (p.Gly171Arg)	UCP2 (G171R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2908034	NM_003355.3(UCP2):c.503G>A (p.Arg168Gln)	UCP2 (R168Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 748254	NM_003355.3(UCP2):c.477C>T (p.Thr159=)	UCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1554861	NM_003355.3(UCP2):c.448G>A (p.Ala150Thr)	UCP2 (A150T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 212541	NM_003355.3(UCP2):c.446G>A (p.Arg149Gln)	UCP2 (R149Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1380759	NM_003355.3(UCP2):c.427C>T (p.Arg143Ter)	UCP2 (R143*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2537408	NM_003355.3(UCP2):c.415G>A (p.Val139Met)	UCP2 (V139M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2976977	NM_003355.3(UCP2):c.410C>T (p.Thr137Met)	UCP2 (T137M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484464	NM_003355.3(UCP2):c.404A>G (p.Gln135Arg)	UCP2 (Q135R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1977889	NM_003355.3(UCP2):c.356G>A (p.Arg119His)	UCP2 (R119H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988822	NM_003355.3(UCP2):c.337C>T (p.His113Tyr)	UCP2 (H113Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292309	NM_003355.3(UCP2):c.310A>G (p.Lys104Glu)	UCP2 (K104E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3014319	NM_003355.3(UCP2):c.286C>T (p.Arg96Cys)	UCP2 (R96C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017448	NM_003355.3(UCP2):c.283G>A (p.Val95Ile)	UCP2 (V95I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3185984	NM_003355.3(UCP2):c.270G>A (p.Met90Ile)	UCP2 (M90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437199	NM_003355.3(UCP2):c.227G>A (p.Arg76Gln)	UCP2 (R76Q)	Single nucleotide variant (missense variant)	Body mass index quantitative trait locus 4 +2 more	GBenign/Likely benign
Select item 1388618	NM_003355.3(UCP2):c.226C>T (p.Arg76Ter)	UCP2 (R76*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2418262	NM_003355.3(UCP2):c.212G>A (p.Arg71His)	UCP2 (R71H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3185983	NM_003355.3(UCP2):c.196A>G (p.Ile66Val)	UCP2 (I66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437202	NM_003355.3(UCP2):c.181G>A (p.Gly61Ser)	UCP2 (G61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053407	NM_003355.3(UCP2):c.180C>T (p.Arg60=)	UCP2	Single nucleotide variant (synonymous variant)	UCP2-related disorder	GLikely benign
Select item 3009450	NM_003355.3(UCP2):c.179G>A (p.Arg60His)	UCP2 (R60H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731024	NM_003355.3(UCP2):c.169G>A (p.Ala57Thr)	UCP2 (A57T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 130697	NM_003355.3(UCP2):c.164C>T (p.Ala55Val)	UCP2 (A55V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 212540	NM_003355.3(UCP2):c.156C>T (p.Arg52=)	UCP2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2191040	NM_003355.3(UCP2):c.151G>A (p.Val51Met)	UCP2 (V51M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467215	NM_003355.3(UCP2):c.149C>T (p.Pro50Leu)	UCP2 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336059	NM_003355.3(UCP2):c.140G>A (p.Ser47Asn)	UCP2 (S47N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1935840	NM_003355.3(UCP2):c.127-17C>T	UCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 437203	NM_003355.3(UCP2):c.119G>A (p.Arg40Gln)	UCP2 (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185982	NM_003355.3(UCP2):c.118C>T (p.Arg40Trp)	UCP2 (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212539	NM_003355.3(UCP2):c.115G>A (p.Val39Ile)	UCP2 (V39I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 437204	NM_003355.3(UCP2):c.79G>A (p.Ala27Thr)	UCP2 (A27T)	Single nucleotide variant (missense variant)	Body mass index quantitative trait locus 4 +2 more	GUncertain significance
Select item 2474432	NM_003355.3(UCP2):c.73T>C (p.Cys25Arg)	UCP2 (C25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338193	NM_003355.3(UCP2):c.59C>T (p.Ala20Val)	UCP2 (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185987	NM_003355.3(UCP2):c.58G>A (p.Ala20Thr)	UCP2 (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1441251	NM_003355.3(UCP2):c.53T>C (p.Leu18Pro)	UCP2 (L18P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2459933	NM_003355.3(UCP2):c.8G>T (p.Gly3Val)	UCP2 (G3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437200	NM_003355.3(UCP2):c.-5G>A	UCP2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3341122	NM_003355.3(UCP2):c.-100+1471G>T	UCP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 7865	NM_003355.2(UCP2):c.-1245G>A	UCP2	Single nucleotide variant	Body mass index quantitative trait locus 4	Grisk factor
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527650	GRCh37/hg19 11q13.4(chr11:73444963-73777547)	C2CD3, COA4 +6 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 686318	GRCh37/hg19 11q13.4(chr11:73395712-73788461)x3	C2CD3, COA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686083	GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4	C2CD3, COA4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563850	GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3	COA4, UCP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395265	GRCh37/hg19 11q13.4(chr11:73570217-73687662)x3	COA4, DNAJB13 +3 more	Copy number gain	See cases	GLikely benign
Select item 394189	GRCh37/hg19 11q13.4(chr11:73197127-73712308)x3	UCP3, COA4 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 91