DUSP16[gene] - ClinVar

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Items: 73

	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 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 2665013	GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)	DUSP16, LOC124625907 +54 more	Copy number gain	not provided	GUncertain significance
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 2220778	NM_030640.3(DUSP16):c.1967C>T (p.Ser656Leu)	DUSP16 (S656L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359219	NM_030640.3(DUSP16):c.1873C>T (p.Arg625Cys)	DUSP16 (R625C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476537	NM_030640.3(DUSP16):c.1792C>T (p.Arg598Cys)	DUSP16 (R598C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593448	NM_030640.3(DUSP16):c.1780G>A (p.Val594Ile)	DUSP16 (V594I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376257	NM_030640.3(DUSP16):c.1715T>C (p.Ile572Thr)	DUSP16 (I572T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550561	NM_030640.3(DUSP16):c.1700A>G (p.Tyr567Cys)	DUSP16 (Y567C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608561	NM_030640.3(DUSP16):c.1586C>T (p.Thr529Met)	DUSP16 (T529M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236582	NM_030640.3(DUSP16):c.1552C>T (p.Leu518Phe)	DUSP16 (L518F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382130	NM_030640.3(DUSP16):c.1457C>T (p.Ser486Leu)	DUSP16 (S486L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261502	NM_030640.3(DUSP16):c.1312G>A (p.Gly438Arg)	DUSP16 (G438R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642737	NM_030640.3(DUSP16):c.1158C>T (p.Ser386=)	DUSP16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771457	NM_030640.3(DUSP16):c.1080_1083del (p.Pro361fs)	DUSP16 (P361fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2642738	NM_030640.3(DUSP16):c.1080G>A (p.Val360=)	DUSP16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327278	NM_030640.3(DUSP16):c.1042G>A (p.Glu348Lys)	DUSP16 (E348K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242486	NM_030640.3(DUSP16):c.925A>G (p.Ser309Gly)	DUSP16 (S309G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205791	NM_030640.3(DUSP16):c.916G>C (p.Gly306Arg)	DUSP16 (G306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401156	NM_030640.3(DUSP16):c.908G>A (p.Gly303Glu)	DUSP16 (G303E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598692	NM_030640.3(DUSP16):c.890A>T (p.Lys297Met)	DUSP16 (K297M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642739	NM_030640.3(DUSP16):c.768C>T (p.Ile256=)	DUSP16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723986	NM_030640.3(DUSP16):c.663G>T (p.Pro221=)	DUSP16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2480066	NM_030640.3(DUSP16):c.623G>A (p.Arg208His)	DUSP16 (R208H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615505	NM_030640.3(DUSP16):c.607G>A (p.Glu203Lys)	DUSP16 (E203K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457901	NM_030640.3(DUSP16):c.494A>G (p.Asn165Ser)	DUSP16 (N165S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247448	NM_030640.3(DUSP16):c.421A>G (p.Thr141Ala)	DUSP16 (T141A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293776	NM_030640.3(DUSP16):c.329A>G (p.Lys110Arg)	DUSP16 (K110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715517	NM_030640.3(DUSP16):c.229-7A>C	DUSP16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2290808	NM_030640.3(DUSP16):c.218C>T (p.Ala73Val)	DUSP16 (A73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260225	NM_030640.3(DUSP16):c.71A>G (p.Glu24Gly)	DUSP16 (E24G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371972	NM_030640.3(DUSP16):c.7C>A (p.His3Asn)	DUSP16 (H3N)	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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	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 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	RECQL, RERG +85 more	Copy number loss	not provided	GPathogenic
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 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
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 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	GPathogenic
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 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 563918	GRCh37/hg19 12p13.2(chr12:12546745-12773521)x3	BORCS5, CREBL2 +1 more	Copy number gain	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 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 221389	GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3	APOLD1, BORCS5 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 73