KIFAP3[gene] - ClinVar

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Items: 53

	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 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 2258563	NM_014970.4(KIFAP3):c.2333A>C (p.Tyr778Ser)	KIFAP3 (Y734S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3288670	NM_014970.4(KIFAP3):c.2317C>A (p.Arg773Ser)	KIFAP3 (R733S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282514	NM_014970.4(KIFAP3):c.2255A>G (p.Gln752Arg)	KIFAP3 (Q712R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598801	NM_014970.4(KIFAP3):c.2214C>A (p.Phe738Leu)	KIFAP3 (F660L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477338	NM_014970.4(KIFAP3):c.2201T>C (p.Ile734Thr)	KIFAP3 (I656T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114998	NM_014970.4(KIFAP3):c.2125A>G (p.Ile709Val)	KIFAP3 (I665V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517504	NM_014970.4(KIFAP3):c.1879G>A (p.Val627Ile)	KIFAP3 (V587I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032436	NM_014970.4(KIFAP3):c.1794A>G (p.Leu598=)	KIFAP3	Single nucleotide variant (synonymous variant)	KIFAP3-related disorder	GLikely benign
Select item 3288671	NM_014970.4(KIFAP3):c.1727C>G (p.Ser576Cys)	KIFAP3 (S532C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541761	NM_014970.4(KIFAP3):c.1595C>A (p.Thr532Asn)	KIFAP3 (T454N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242912	NM_014970.4(KIFAP3):c.1549G>A (p.Glu517Lys)	KIFAP3 (E517K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048020	NM_014970.4(KIFAP3):c.1537T>G (p.Ser513Ala)	KIFAP3 (S435A +3 more)	Single nucleotide variant (missense variant)	KIFAP3-related disorder	GBenign
Select item 2527512	NM_014970.4(KIFAP3):c.1371A>C (p.Arg457Ser)	KIFAP3 (R379S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049322	NM_014970.4(KIFAP3):c.1301T>G (p.Phe434Cys)	KIFAP3 (F356C +3 more)	Single nucleotide variant (missense variant)	KIFAP3-related disorder	GBenign
Select item 3050553	NM_014970.4(KIFAP3):c.1245C>T (p.Arg415=)	KIFAP3	Single nucleotide variant (synonymous variant)	KIFAP3-related disorder	GBenign
Select item 2232696	NM_014970.4(KIFAP3):c.1235T>G (p.Met412Arg)	KIFAP3 (M334R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387095	NM_014970.4(KIFAP3):c.1127G>A (p.Gly376Glu)	KIFAP3 (G376E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114996	NM_014970.4(KIFAP3):c.1120G>C (p.Asp374His)	KIFAP3 (D296H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488771	NM_014970.4(KIFAP3):c.931G>A (p.Ala311Thr)	KIFAP3 (A233T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115001	NM_014970.4(KIFAP3):c.875A>G (p.Asp292Gly)	KIFAP3 (D248G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037470	NM_014970.4(KIFAP3):c.834A>G (p.Leu278=)	KIFAP3	Single nucleotide variant (synonymous variant)	KIFAP3-related disorder	GBenign
Select item 3288672	NM_014970.4(KIFAP3):c.674A>G (p.Asn225Ser)	KIFAP3 (N181S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 3115000	NM_014970.4(KIFAP3):c.355C>T (p.Pro119Ser)	KIFAP3 (P75S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052816	NM_014970.4(KIFAP3):c.320-2450T>C	KIFAP3	Single nucleotide variant (synonymous variant +1 more)	KIFAP3-related disorder	GLikely benign
Select item 3041937	NM_014970.4(KIFAP3):c.320-2468G>A	KIFAP3	Single nucleotide variant (synonymous variant +1 more)	KIFAP3-related disorder	GLikely benign
Select item 3114999	NM_014970.4(KIFAP3):c.299G>A (p.Arg100His)	KIFAP3 (R100H +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470266	NM_014970.4(KIFAP3):c.257T>G (p.Leu86Arg)	KIFAP3 (L42R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3114997	NM_014970.4(KIFAP3):c.202A>G (p.Thr68Ala)	KIFAP3 (T28A +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616680	NM_014970.4(KIFAP3):c.47G>A (p.Gly16Glu)	KIFAP3 (G16E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2568909	NM_014970.4(KIFAP3):c.5A>T (p.Gln2Leu)	KIFAP3 (Q2L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1457087	NC_000001.10:g.(?_169660781)_(170521603_?)del	FIRRM, GORAB +6 more	Deletion	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	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 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 53