WFIKKN2[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +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)	Inborn genetic diseases	GLikely benign
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)	Inborn genetic diseases	GUncertain significance
Select item 2212370	NM_175575.6(WFIKKN2):c.112A>G (p.Ile38Val)	WFIKKN2 (I38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396797	NM_175575.6(WFIKKN2):c.116G>A (p.Arg39His)	WFIKKN2 (R39H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296741	NM_175575.6(WFIKKN2):c.423G>T (p.Glu141Asp)	WFIKKN2 (E48D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224275	NM_175575.6(WFIKKN2):c.488C>T (p.Ala163Val)	WFIKKN2 (A70V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366220	NM_175575.6(WFIKKN2):c.596C>T (p.Ser199Phe)	WFIKKN2 (S106F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241464	NM_175575.6(WFIKKN2):c.605C>T (p.Thr202Ile)	WFIKKN2 (T202I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399967	NM_175575.6(WFIKKN2):c.623C>T (p.Ala208Val)	WFIKKN2 (A115V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538192	NM_175575.6(WFIKKN2):c.657G>T (p.Gln219His)	WFIKKN2 (Q126H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249871	NM_175575.6(WFIKKN2):c.668T>C (p.Met223Thr)	WFIKKN2 (M223T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369820	NM_175575.6(WFIKKN2):c.688C>T (p.Leu230Phe)	WFIKKN2 (L230F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394543	NM_175575.6(WFIKKN2):c.767G>A (p.Arg256Gln)	WFIKKN2 (R163Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282431	NM_175575.6(WFIKKN2):c.899T>G (p.Phe300Cys)	WFIKKN2 (F300C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368049	NM_175575.6(WFIKKN2):c.908C>T (p.Ser303Leu)	WFIKKN2 (S210L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476533	NM_175575.6(WFIKKN2):c.917G>C (p.Arg306Thr)	WFIKKN2 (R213T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386502	NM_175575.6(WFIKKN2):c.956A>G (p.Asn319Ser)	WFIKKN2 (N226S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458439	NM_175575.6(WFIKKN2):c.1169C>T (p.Ala390Val)	WFIKKN2 (A390V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249982	NM_175575.6(WFIKKN2):c.1330C>A (p.Arg444Ser)	WFIKKN2 (R444S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370771	NM_175575.6(WFIKKN2):c.1351C>T (p.Arg451Trp)	WFIKKN2 (R358W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536498	NM_175575.6(WFIKKN2):c.1433C>T (p.Ser478Leu)	WFIKKN2 (S385L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267665	NM_175575.6(WFIKKN2):c.1441G>A (p.Ala481Thr)	WFIKKN2 (A388T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245430	NM_175575.6(WFIKKN2):c.1482G>T (p.Met494Ile)	WFIKKN2 (M401I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398587	NM_175575.6(WFIKKN2):c.1556A>G (p.Asn519Ser)	WFIKKN2 (N519S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210758	NM_175575.6(WFIKKN2):c.1580T>G (p.Leu527Arg)	WFIKKN2 (L434R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383913	NM_175575.6(WFIKKN2):c.1603G>A (p.Gly535Ser)	WFIKKN2 (G442S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252597	NM_175575.6(WFIKKN2):c.1649G>T (p.Ser550Ile)	WFIKKN2 (S457I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247877	NM_175575.6(WFIKKN2):c.1705C>A (p.Leu569Ile)	WFIKKN2 (L476I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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: 37