IKBIP[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 2215425	NM_201612.4(IKBIP):c.913A>G (p.Ile305Val)	IKBIP (I199V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108995	NM_201612.4(IKBIP):c.362G>T (p.Arg121Leu)	IKBIP (R121L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529191	NM_153687.4(IKBIP):c.1124G>A (p.Gly375Asp)	IKBIP (G375D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108993	NM_153687.4(IKBIP):c.1103T>C (p.Ile368Thr)	IKBIP (I368T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209816	NM_153687.4(IKBIP):c.1018G>A (p.Glu340Lys)	IKBIP (E340K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569942	NM_153687.4(IKBIP):c.989A>G (p.Tyr330Cys)	IKBIP (Y330C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108999	NM_153687.4(IKBIP):c.982A>G (p.Ile328Val)	IKBIP (I328V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559243	NM_153687.4(IKBIP):c.923A>G (p.Glu308Gly)	IKBIP (E308G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531477	NM_153687.4(IKBIP):c.916A>G (p.Asn306Asp)	IKBIP (N306D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458120	NM_153687.4(IKBIP):c.912G>A (p.Met304Ile)	IKBIP (M304I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493316	NM_153687.4(IKBIP):c.909G>C (p.Gln303His)	IKBIP (Q303H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108998	NM_153687.4(IKBIP):c.891G>A (p.Met297Ile)	IKBIP (M297I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311794	NM_153687.4(IKBIP):c.781G>A (p.Asp261Asn)	IKBIP (D261N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275196	NM_153687.4(IKBIP):c.775C>T (p.Leu259Phe)	IKBIP (L259F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237368	NM_153687.4(IKBIP):c.737A>T (p.His246Leu)	IKBIP (H246L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604872	NM_153687.4(IKBIP):c.712A>G (p.Ile238Val)	IKBIP (I238V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3108996	NM_153687.4(IKBIP):c.610G>A (p.Asp204Asn)	IKBIP (D204N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548344	NM_153687.4(IKBIP):c.520A>C (p.Lys174Gln)	IKBIP (K174Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552537	NM_153687.4(IKBIP):c.502A>G (p.Ile168Val)	IKBIP (I168V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2278666	NM_153687.4(IKBIP):c.466A>G (p.Thr156Ala)	IKBIP (T156A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233690	NM_153687.4(IKBIP):c.428A>G (p.Gln143Arg)	IKBIP (Q143R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108994	NM_153687.4(IKBIP):c.332C>T (p.Thr111Ile)	IKBIP (T111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254680	NM_153687.4(IKBIP):c.160A>T (p.Thr54Ser)	IKBIP (T54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274777	NM_153687.4(IKBIP):c.122C>T (p.Ala41Val)	IKBIP (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274728	NM_153687.4(IKBIP):c.121G>T (p.Ala41Ser)	IKBIP (A41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255287	NM_153687.4(IKBIP):c.44C>G (p.Ala15Gly)	IKBIP (A15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248365	NM_153687.4(IKBIP):c.40G>A (p.Gly14Arg)	IKBIP (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478734	NM_153687.4(IKBIP):c.11T>C (p.Val4Ala)	IKBIP (V4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687374	GRCh37/hg19 12q23.1(chr12:98360850-99487172)x3	ANKS1B, APAF1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686999	GRCh37/hg19 12q23.1(chr12:98968226-99077328)x3	APAF1, IKBIP +1 more	Copy number gain	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 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

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Items: 37