PI4KB[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2292715	NM_001369623.2(PI4KB):c.2440G>A (p.Gly814Ser)	PI4KB (G482S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514334	NM_001369623.2(PI4KB):c.2392C>T (p.Arg798Trp)	PI4KB (R783W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547434	NM_001369623.2(PI4KB):c.2339T>A (p.Met780Lys)	PI4KB (M765K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212543	NM_001369623.2(PI4KB):c.2303C>T (p.Thr768Ile)	PI4KB (T436I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212542	NM_001369623.2(PI4KB):c.2300G>A (p.Ser767Asn)	PI4KB (S764N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443953	NM_001369623.2(PI4KB):c.2261T>G (p.Met754Arg)	PI4KB (M422R +3 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 87	GPathogenic
Select item 3212541	NM_001369623.2(PI4KB):c.2159G>A (p.Gly720Asp)	PI4KB (G717D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443952	NM_001369623.2(PI4KB):c.2044G>A (p.Glu682Lys)	PI4KB (E350K +3 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 87	GPathogenic
Select item 2395810	NM_001369623.2(PI4KB):c.1885T>A (p.Ser629Thr)	PI4KB (S297T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212540	NM_001369623.2(PI4KB):c.1814C>G (p.Ala605Gly)	PI4KB (A273G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212539	NM_001369623.2(PI4KB):c.1810T>G (p.Ser604Ala)	PI4KB (S616A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359287	NM_001369623.2(PI4KB):c.1801C>G (p.Leu601Val)	PI4KB (L586V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212538	NM_001369623.2(PI4KB):c.1771G>A (p.Val591Met)	PI4KB (V576M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212537	NM_001369623.2(PI4KB):c.1769G>A (p.Arg590Gln)	PI4KB (R258Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549950	NM_001369623.2(PI4KB):c.1708C>T (p.Arg570Trp)	PI4KB (R555W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672349	NM_001369623.2(PI4KB):c.1554G>A (p.Pro518=)	PI4KB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3212535	NM_001369623.2(PI4KB):c.1424A>G (p.His475Arg)	PI4KB (H143R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248772	NM_001369623.2(PI4KB):c.1417G>A (p.Glu473Lys)	PI4KB (E458K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212534	NM_001369623.2(PI4KB):c.1355A>G (p.Tyr452Cys)	PI4KB (Y452C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443951	NM_001369623.2(PI4KB):c.1346T>G (p.Val449Gly)	PI4KB (V117G +3 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 87	GPathogenic
Select item 2524306	NM_001369623.2(PI4KB):c.1310T>C (p.Ile437Thr)	PI4KB (I422T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225817	NM_001369623.2(PI4KB):c.1300G>A (p.Glu434Lys)	PI4KB (E102K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212533	NM_001369623.2(PI4KB):c.1252A>G (p.Ile418Val)	PI4KB (I418V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304492	NM_001369623.2(PI4KB):c.1201G>A (p.Val401Met)	PI4KB (V413M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393229	NM_001369623.2(PI4KB):c.934A>G (p.Ile312Val)	PI4KB (I312V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2345666	NM_001369623.2(PI4KB):c.863A>G (p.Asn288Ser)	PI4KB (N288S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618068	NM_001369623.2(PI4KB):c.853C>T (p.Leu285Phe)	PI4KB (L285F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537644	NM_001369623.2(PI4KB):c.770T>G (p.Leu257Trp)	PI4KB (L269W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3345009	NM_001369623.2(PI4KB):c.767C>T (p.Ser256Phe)	PI4KB (S256F +1 more)	Single nucleotide variant (missense variant +1 more)	PI4KB-related disorder	GUncertain significance
Select item 2515153	NM_001369623.2(PI4KB):c.749G>A (p.Arg250Lys)	PI4KB (R250K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382767	NM_001369623.2(PI4KB):c.524A>G (p.Tyr175Cys)	PI4KB (Y175C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471593	NM_001369623.2(PI4KB):c.508G>A (p.Glu170Lys)	PI4KB (E170K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209841	NM_001369623.2(PI4KB):c.412C>G (p.Leu138Val)	PI4KB (L150V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443954	NM_001369623.2(PI4KB):c.362A>G (p.Gln121Arg)	PI4KB (Q133R)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 87	GPathogenic
Select item 2336791	NM_001369623.2(PI4KB):c.317C>T (p.Ala106Val)	PI4KB (A118V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212544	NM_001369623.2(PI4KB):c.218C>T (p.Thr73Ile)	PI4KB (T73I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306365	NM_001369623.2(PI4KB):c.80G>A (p.Gly27Glu)	PI4KB (G27E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639171	NM_001369623.2(PI4KB):c.47_58del (p.Glu16_Ser19del)	PI4KB	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3306364	NM_001369623.2(PI4KB):c.47A>T (p.Glu16Val)	PI4KB (E16V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278031	NM_001369623.2(PI4KB):c.-17G>A	PI4KB (R7Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1527282	GRCh37/hg19 1q21.3(chr1:151179825-151377786)	PI4KB, PIP5K1A +6 more	Copy number loss	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DPM3, ECM1 +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1023952	NC_000001.10:g.(?_151122490)_(151585008_?)dup	PSMB4, PIP5K1A +14 more	Duplication	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394580	GRCh37/hg19 1q21.3(chr1:151288502-151319184)x3	PI4KB, RFX5	Copy number gain	See cases	GLikely benign
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

ClinVar

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Items: 55