WFIKKN2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2395822	NM_175575.6(WFIKKN2):c.20G>A (p.Arg7His)	WFIKKN2 (R7H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3333085	NM_175575.6(WFIKKN2):c.79G>A (p.Gly27Arg)	WFIKKN2 (G27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333081	NM_175575.6(WFIKKN2):c.82G>T (p.Val28Leu)	WFIKKN2 (V28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190511	NM_175575.6(WFIKKN2):c.88C>T (p.Pro30Ser)	WFIKKN2 (P30S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3190512	NM_175575.6(WFIKKN2):c.89C>T (p.Pro30Leu)	WFIKKN2 (P30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775327	NM_175575.6(WFIKKN2):c.92G>A (p.Arg31Gln)	WFIKKN2 (R31Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2540629	NM_175575.6(WFIKKN2):c.107C>T (p.Pro36Leu)	WFIKKN2 (P36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212370	NM_175575.6(WFIKKN2):c.112A>G (p.Ile38Val)	WFIKKN2 (I38V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396797	NM_175575.6(WFIKKN2):c.116G>A (p.Arg39His)	WFIKKN2 (R39H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190505	NM_175575.6(WFIKKN2):c.181A>C (p.Thr61Pro)	WFIKKN2 (T61P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190506	NM_175575.6(WFIKKN2):c.191G>A (p.Arg64Gln)	WFIKKN2 (R64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190507	NM_175575.6(WFIKKN2):c.391G>A (p.Val131Met)	WFIKKN2 (V131M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190508	NM_175575.6(WFIKKN2):c.410G>A (p.Arg137His)	WFIKKN2 (R44H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296741	NM_175575.6(WFIKKN2):c.423G>T (p.Glu141Asp)	WFIKKN2 (E48D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224275	NM_175575.6(WFIKKN2):c.488C>T (p.Ala163Val)	WFIKKN2 (A70V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366220	NM_175575.6(WFIKKN2):c.596C>T (p.Ser199Phe)	WFIKKN2 (S106F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241464	NM_175575.6(WFIKKN2):c.605C>T (p.Thr202Ile)	WFIKKN2 (T202I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190509	NM_175575.6(WFIKKN2):c.620T>G (p.Met207Arg)	WFIKKN2 (M114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399967	NM_175575.6(WFIKKN2):c.623C>T (p.Ala208Val)	WFIKKN2 (A115V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538192	NM_175575.6(WFIKKN2):c.657G>T (p.Gln219His)	WFIKKN2 (Q126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249871	NM_175575.6(WFIKKN2):c.668T>C (p.Met223Thr)	WFIKKN2 (M223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190510	NM_175575.6(WFIKKN2):c.688C>G (p.Leu230Val)	WFIKKN2 (L137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369820	NM_175575.6(WFIKKN2):c.688C>T (p.Leu230Phe)	WFIKKN2 (L230F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333082	NM_175575.6(WFIKKN2):c.697G>A (p.Val233Met)	WFIKKN2 (V233M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333086	NM_175575.6(WFIKKN2):c.763A>T (p.Met255Leu)	WFIKKN2 (M255L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394543	NM_175575.6(WFIKKN2):c.767G>A (p.Arg256Gln)	WFIKKN2 (R163Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282431	NM_175575.6(WFIKKN2):c.899T>G (p.Phe300Cys)	WFIKKN2 (F300C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368049	NM_175575.6(WFIKKN2):c.908C>T (p.Ser303Leu)	WFIKKN2 (S210L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476533	NM_175575.6(WFIKKN2):c.917G>C (p.Arg306Thr)	WFIKKN2 (R213T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333087	NM_175575.6(WFIKKN2):c.920G>A (p.Gly307Asp)	WFIKKN2 (G214D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386502	NM_175575.6(WFIKKN2):c.956A>G (p.Asn319Ser)	WFIKKN2 (N226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190513	NM_175575.6(WFIKKN2):c.970C>T (p.Pro324Ser)	WFIKKN2 (P231S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190502	NM_175575.6(WFIKKN2):c.1069A>G (p.Thr357Ala)	WFIKKN2 (T264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333083	NM_175575.6(WFIKKN2):c.1141G>A (p.Gly381Arg)	WFIKKN2 (G288R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458439	NM_175575.6(WFIKKN2):c.1169C>T (p.Ala390Val)	WFIKKN2 (A390V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333089	NM_175575.6(WFIKKN2):c.1196C>T (p.Ala399Val)	WFIKKN2 (A306V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333079	NM_175575.6(WFIKKN2):c.1258G>A (p.Glu420Lys)	WFIKKN2 (E420K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190503	NM_175575.6(WFIKKN2):c.1310C>T (p.Pro437Leu)	WFIKKN2 (P344L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249982	NM_175575.6(WFIKKN2):c.1330C>A (p.Arg444Ser)	WFIKKN2 (R444S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370771	NM_175575.6(WFIKKN2):c.1351C>T (p.Arg451Trp)	WFIKKN2 (R358W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536498	NM_175575.6(WFIKKN2):c.1433C>T (p.Ser478Leu)	WFIKKN2 (S385L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267665	NM_175575.6(WFIKKN2):c.1441G>A (p.Ala481Thr)	WFIKKN2 (A388T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245430	NM_175575.6(WFIKKN2):c.1482G>T (p.Met494Ile)	WFIKKN2 (M401I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190504	NM_175575.6(WFIKKN2):c.1531G>A (p.Val511Met)	WFIKKN2 (V418M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398587	NM_175575.6(WFIKKN2):c.1556A>G (p.Asn519Ser)	WFIKKN2 (N519S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333088	NM_175575.6(WFIKKN2):c.1557C>A (p.Asn519Lys)	WFIKKN2 (N426K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210758	NM_175575.6(WFIKKN2):c.1580T>G (p.Leu527Arg)	WFIKKN2 (L434R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383913	NM_175575.6(WFIKKN2):c.1603G>A (p.Gly535Ser)	WFIKKN2 (G442S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252597	NM_175575.6(WFIKKN2):c.1649G>T (p.Ser550Ile)	WFIKKN2 (S457I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333080	NM_175575.6(WFIKKN2):c.1672C>T (p.Arg558Cys)	WFIKKN2 (R465C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247877	NM_175575.6(WFIKKN2):c.1705C>A (p.Leu569Ile)	WFIKKN2 (L476I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 61