KIFAP3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	ATP8B2, AVPR1B +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53