DERA[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 150728	GRCh38/hg38 12p12.3(chr12:15592098-16120442)x3	DERA, EPS8 +13 more	Copy number gain	See cases	GLikely benign
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 153896	GRCh38/hg38 12p12.3(chr12:15912444-16361256)x1	DERA, LOC110120934 +6 more	Copy number loss	See cases	GUncertain significance
Select item 2229157	NM_015954.4(DERA):c.82C>T (p.Arg28Cys)	DERA (R28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522948	NM_015954.4(DERA):c.126G>T (p.Trp42Cys)	DERA (W42C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255886	NM_015954.4(DERA):c.238C>G (p.Arg80Gly)	DERA (R80G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391202	NM_015954.4(DERA):c.356A>G (p.Asn119Ser)	DERA (N119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239517	NM_015954.4(DERA):c.467T>C (p.Val156Ala)	DERA (V156A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 153118	GRCh38/hg38 12p12.3(chr12:15964371-16339179)x1	DERA, LOC110120934 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2615503	NM_015954.4(DERA):c.556C>T (p.His186Tyr)	DERA (H186Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475492	NM_015954.4(DERA):c.559C>T (p.Leu187Phe)	DERA (L187F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376782	NM_015954.4(DERA):c.578C>G (p.Thr193Arg)	DERA (T193R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253586	NM_015954.4(DERA):c.622A>G (p.Ile208Val)	DERA (I208V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 58987	GRCh38/hg38 12p12.3(chr12:16019165-17579501)x1	DERA, LMO3 +20 more	Copy number loss	See cases	GPathogenic
Select item 2514235	NM_015954.4(DERA):c.674C>G (p.Thr225Arg)	DERA (T182R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407766	NM_015954.4(DERA):c.779G>A (p.Arg260His)	DERA (R217H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559070	NM_015954.4(DERA):c.872G>A (p.Ser291Asn)	DERA (S248N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485169	NM_015954.4(DERA):c.908A>G (p.His303Arg)	DERA (H303R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2685434	GRCh37/hg19 12p12.3(chr12:15873021-16152409)x1	DERA, EPS8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1809077	GRCh37/hg19 12p12.3(chr12:15912116-16443995)x1	DERA, EPS8 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808837	GRCh37/hg19 12p12.3(chr12:15912116-16284856)x3	DERA, EPS8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	RECQL, RERG +85 more	Copy number loss	not provided	GPathogenic
Select item 1527686	GRCh37/hg19 12p12.3(chr12:16162958-16254149)	DERA	Copy number loss	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1340223	GRCh37/hg19 12p12.3(chr12:15916056-16284856)x3	DERA, EPS8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979949	GRCh37/hg19 12p12.3(chr12:16059134-16166529)x1	DERA	Copy number loss	not provided	GUncertain significance
Select item 979948	GRCh37/hg19 12p12.3(chr12:15912115-16284856)x3	STRAP, EPS8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979946	GRCh37/hg19 12p12.3(chr12:16158928-16233488)x1	DERA	Copy number loss	not provided	GLikely benign
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686924	GRCh37/hg19 12p12.3(chr12:15630989-16090925)x3	DERA, EPS8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685383	GRCh37/hg19 12p12.3(chr12:16045841-16222477)x1	DERA, STRAP	Copy number loss	not provided	GUncertain significance
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563946	GRCh37/hg19 12p12.3(chr12:16069040-16509832)x1	MGST1, SLC15A5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395418	GRCh37/hg19 12p12.3(chr12:15940756-16172099)x3	DERA, EPS8 +1 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 62