FARP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 59179	GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3	LOC129936008, LOC129936009 +47 more	Copy number gain	See cases	GPathogenic
Select item 58914	GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1	ATG4B, BOK +56 more	Copy number loss	See cases	GPathogenic
Select item 718858	NM_014808.4(FARP2):c.21A>C (p.Thr7=)	FARP2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2602804	NM_014808.4(FARP2):c.49C>T (p.Arg17Cys)	FARP2 (R17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205894	NM_014808.4(FARP2):c.52T>G (p.Leu18Val)	FARP2 (L18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722178	NM_014808.4(FARP2):c.71T>C (p.Val24Ala)	FARP2 (V24A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2519477	NM_014808.4(FARP2):c.80G>A (p.Ser27Asn)	FARP2 (S27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720028	NM_014808.4(FARP2):c.95G>A (p.Gly32Glu)	FARP2 (G32E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770881	NM_014808.4(FARP2):c.133C>T (p.His45Tyr)	FARP2 (H45Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708286	NM_014808.4(FARP2):c.134A>G (p.His45Arg)	FARP2 (H45R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3277719	NM_014808.4(FARP2):c.187A>G (p.Lys63Glu)	FARP2 (K63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222226	NM_014808.4(FARP2):c.238G>A (p.Val80Ile)	FARP2 (V80I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092899	NM_014808.4(FARP2):c.251A>G (p.Tyr84Cys)	FARP2 (Y84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764873	NM_014808.4(FARP2):c.277C>G (p.Gln93Glu)	FARP2 (Q93E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2240576	NM_014808.4(FARP2):c.286T>A (p.Trp96Arg)	FARP2 (W96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786496	NM_014808.4(FARP2):c.509-5C>G	FARP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737599	NM_014808.4(FARP2):c.534G>A (p.Thr178=)	FARP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2388726	NM_014808.4(FARP2):c.542G>A (p.Arg181Gln)	FARP2 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206568	NM_014808.4(FARP2):c.562G>A (p.Glu188Lys)	FARP2 (E188K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277720	NM_014808.4(FARP2):c.571C>G (p.Pro191Ala)	FARP2 (P191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461605	NM_014808.4(FARP2):c.572C>T (p.Pro191Leu)	FARP2 (P191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277717	NM_014808.4(FARP2):c.729G>T (p.Lys243Asn)	FARP2 (K243N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253031	NM_014808.4(FARP2):c.757G>A (p.Val253Ile)	FARP2 (V253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092904	NM_014808.4(FARP2):c.788A>G (p.Asn263Ser)	FARP2 (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764292	NM_014808.4(FARP2):c.794T>C (p.Phe265Ser)	FARP2 (F265S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2227672	NM_014808.4(FARP2):c.902G>A (p.Gly301Asp)	FARP2 (G301D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331659	NM_014808.4(FARP2):c.905G>C (p.Ser302Thr)	FARP2 (S302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092905	NM_014808.4(FARP2):c.922A>C (p.Asn308His)	FARP2 (N308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264255	NM_014808.4(FARP2):c.1013G>A (p.Gly338Asp)	FARP2 (G338D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092879	NM_014808.4(FARP2):c.1069G>A (p.Asp357Asn)	FARP2 (D357N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778059	NM_014808.4(FARP2):c.1100+8C>T	FARP2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3092880	NM_014808.4(FARP2):c.1111A>G (p.Lys371Glu)	FARP2 (K371E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528687	NM_014808.4(FARP2):c.1117C>G (p.His373Asp)	FARP2 (H373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376287	NM_014808.4(FARP2):c.1126G>A (p.Val376Ile)	FARP2 (V376I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206272	NM_014808.4(FARP2):c.1130G>A (p.Arg377Gln)	FARP2 (R377Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232533	NM_014808.4(FARP2):c.1146C>G (p.Asp382Glu)	FARP2 (D382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464450	NM_014808.4(FARP2):c.1157A>G (p.Gln386Arg)	FARP2 (Q386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092881	NM_014808.4(FARP2):c.1234T>G (p.Ser412Ala)	FARP2 (S412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092882	NM_014808.4(FARP2):c.1336A>G (p.Ser446Gly)	FARP2 (S446G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719073	NM_014808.4(FARP2):c.1357C>A (p.Pro453Thr)	FARP2 (P453T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2558890	NM_014808.4(FARP2):c.1378C>G (p.Pro460Ala)	FARP2 (P460A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092883	NM_014808.4(FARP2):c.1393G>A (p.Ala465Thr)	FARP2 (A465T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778060	NM_014808.4(FARP2):c.1411+5C>T	FARP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2532543	NM_014808.4(FARP2):c.1442C>T (p.Pro481Leu)	FARP2 (P481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472020	NM_014808.4(FARP2):c.1450C>T (p.Arg484Trp)	FARP2 (R484W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400590	NM_014808.4(FARP2):c.1459C>A (p.Pro487Thr)	FARP2 (P487T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378087	NM_014808.4(FARP2):c.1485G>C (p.Gln495His)	FARP2 (Q495H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092884	NM_014808.4(FARP2):c.1493T>C (p.Leu498Ser)	FARP2 (L498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092885	NM_014808.4(FARP2):c.1558G>C (p.Gly520Arg)	FARP2 (G520R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652113	NM_014808.4(FARP2):c.1569C>T (p.Cys523=)	FARP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3092886	NM_014808.4(FARP2):c.1581A>C (p.Arg527Ser)	FARP2 (R527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092887	NM_014808.4(FARP2):c.1589G>A (p.Arg530His)	FARP2 (R530H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092888	NM_014808.4(FARP2):c.1591G>A (p.Val531Met)	FARP2 (V531M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092889	NM_014808.4(FARP2):c.1595C>T (p.Pro532Leu)	FARP2 (P532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342005	NM_014808.4(FARP2):c.1633G>A (p.Ala545Thr)	FARP2 (A545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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