DKK3[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 3082642	NM_001018057.2(DKK3):c.1020C>T (p.Ala340=)	DKK3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1255589	NM_001018057.2(DKK3):c.1013C>T (p.Ala338Val)	DKK3 (A338V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1255591	NM_001018057.2(DKK3):c.1006dup (p.Glu336fs)	DKK3 (E336fs +1 more)	Duplication (frameshift variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 3082648	NM_001018057.2(DKK3):c.958G>A (p.Glu320Lys)	DKK3 (E320K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255592	NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys)	DKK3 (R318C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 3082647	NM_001018057.2(DKK3):c.940A>G (p.Met314Val)	DKK3 (M328V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262295	NM_001018057.2(DKK3):c.923A>G (p.Tyr308Cys)	DKK3 (Y308C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768428	NM_001018057.2(DKK3):c.920A>G (p.Glu307Gly)	DKK3 (E307G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2332334	NM_001018057.2(DKK3):c.875G>A (p.Arg292His)	DKK3 (R292H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403383	NM_001018057.2(DKK3):c.860C>T (p.Thr287Ile)	DKK3 (T287I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379876	NM_001018057.2(DKK3):c.848T>A (p.Val283Glu)	DKK3 (V297E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480809	NM_001018057.2(DKK3):c.832C>G (p.His278Asp)	DKK3 (H278D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595258	NM_001018057.2(DKK3):c.733G>A (p.Ala245Thr)	DKK3 (A245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082645	NM_001018057.2(DKK3):c.706G>A (p.Val236Met)	DKK3 (V236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236580	NM_001018057.2(DKK3):c.698C>A (p.Pro233His)	DKK3 (P233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1255590	NM_001018057.2(DKK3):c.647C>T (p.Pro216Leu)	DKK3, LOC130005346 (P216L)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255588	NM_001018057.2(DKK3):c.611A>G (p.Asn204Ser)	DKK3, LOC130005346 (N204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243173	NM_001018057.2(DKK3):c.604G>A (p.Gly202Ser)	DKK3 (G202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351456	NM_001018057.2(DKK3):c.538C>T (p.Arg180Trp)	DKK3 (R180W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689683	NM_001018057.2(DKK3):c.505C>A (p.Gln169Lys)	DKK3 (Q169K)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 2509429	NM_001018057.2(DKK3):c.305C>T (p.Thr102Met)	DKK3 (T102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315513	NM_001018057.2(DKK3):c.299C>G (p.Thr100Arg)	DKK3 (T100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082643	NM_001018057.2(DKK3):c.287A>G (p.Asn96Ser)	DKK3 (N96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711543	NM_001018057.2(DKK3):c.277A>G (p.Ser93Gly)	DKK3 (S93G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2384877	NM_001018057.2(DKK3):c.221C>A (p.Ala74Glu)	DKK3 (A74E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623972	NM_001018057.2(DKK3):c.41C>A (p.Ala14Glu)	DKK3 (A14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623971	NM_001018057.2(DKK3):c.40G>A (p.Ala14Thr)	DKK3 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 684926	GRCh37/hg19 11p15.3(chr11:11461387-12258307)x1	DKK3, GALNT18 +2 more	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic

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Items: 41