ClinVar for Gene (Select 9855) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
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 3092904	NM_014808.4(FARP2):c.788A>G (p.Asn263Ser)	FARP2 (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092902	NM_014808.4(FARP2):c.3023C>T (p.Ala1008Val)	FARP2, STK25 (A1008V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092901	NM_014808.4(FARP2):c.2642C>T (p.Ser881Phe)	FARP2 (S881F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092900	NM_014808.4(FARP2):c.2635G>A (p.Glu879Lys)	FARP2 (E879K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3092898	NM_014808.4(FARP2):c.2509C>T (p.Arg837Trp)	FARP2 (R837W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092897	NM_014808.4(FARP2):c.2491G>A (p.Val831Met)	FARP2 (V831M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092896	NM_014808.4(FARP2):c.2387G>A (p.Arg796Gln)	FARP2 (R796Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092895	NM_014808.4(FARP2):c.2386C>T (p.Arg796Trp)	FARP2 (R796W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092894	NM_014808.4(FARP2):c.2342T>C (p.Met781Thr)	FARP2 (M781T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092893	NM_014808.4(FARP2):c.2273G>A (p.Arg758His)	FARP2 (R758H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092892	NM_014808.4(FARP2):c.2224G>T (p.Asp742Tyr)	FARP2 (D742Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092891	NM_014808.4(FARP2):c.1987G>A (p.Glu663Lys)	FARP2 (E663K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092890	NM_014808.4(FARP2):c.1643G>A (p.Arg548Gln)	FARP2 (R548Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3092888	NM_014808.4(FARP2):c.1591G>A (p.Val531Met)	FARP2 (V531M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3092886	NM_014808.4(FARP2):c.1581A>C (p.Arg527Ser)	FARP2 (R527S)	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 3092884	NM_014808.4(FARP2):c.1493T>C (p.Leu498Ser)	FARP2 (L498S)	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 3092882	NM_014808.4(FARP2):c.1336A>G (p.Ser446Gly)	FARP2 (S446G)	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 3092880	NM_014808.4(FARP2):c.1111A>G (p.Lys371Glu)	FARP2 (K371E)	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 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652114	NM_014808.4(FARP2):c.3159G>A (p.Glu1053=)	FARP2, STK25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 2602804	NM_014808.4(FARP2):c.49C>T (p.Arg17Cys)	FARP2 (R17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593057	NM_014808.4(FARP2):c.2711G>A (p.Arg904Gln)	FARP2 (R904Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2557107	NM_014808.4(FARP2):c.1958G>T (p.Arg653Leu)	FARP2 (R653L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2528687	NM_014808.4(FARP2):c.1117C>G (p.His373Asp)	FARP2 (H373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2515499	NM_014808.4(FARP2):c.1880T>C (p.Met627Thr)	FARP2 (M627T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507926	NM_014808.4(FARP2):c.1957C>T (p.Arg653Cys)	FARP2 (R653C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496410	NM_014808.4(FARP2):c.2854G>A (p.Val952Ile)	FARP2, STK25 (V952I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488698	NM_014808.4(FARP2):c.2671C>G (p.Arg891Gly)	FARP2 (R891G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484415	NM_014808.4(FARP2):c.3070G>A (p.Ala1024Thr)	FARP2, STK25 (A1024T)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2470935	NM_014808.4(FARP2):c.2027C>T (p.Thr676Met)	FARP2 (T676M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470042	NM_014808.4(FARP2):c.2077C>T (p.Arg693Cys)	FARP2 (R693C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468535	NM_014808.4(FARP2):c.2078G>A (p.Arg693His)	FARP2 (R693H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468008	NM_014808.4(FARP2):c.2236A>G (p.Ile746Val)	FARP2 (I746V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2461605	NM_014808.4(FARP2):c.572C>T (p.Pro191Leu)	FARP2 (P191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456613	NM_014808.4(FARP2):c.2661A>T (p.Glu887Asp)	FARP2 (E887D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455987	NM_014808.4(FARP2):c.2956G>A (p.Ala986Thr)	FARP2, STK25 (A986T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2455918	NM_014808.4(FARP2):c.1919A>G (p.His640Arg)	FARP2 (H640R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
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 2388726	NM_014808.4(FARP2):c.542G>A (p.Arg181Gln)	FARP2 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388216	NM_014808.4(FARP2):c.1670T>C (p.Ile557Thr)	FARP2 (I557T)	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 2376287	NM_014808.4(FARP2):c.1126G>A (p.Val376Ile)	FARP2 (V376I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356558	NM_014808.4(FARP2):c.3097A>G (p.Ser1033Gly)	FARP2, STK25 (S1033G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356413	NM_014808.4(FARP2):c.1958G>A (p.Arg653His)	FARP2 (R653H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356142	NM_014808.4(FARP2):c.2066G>A (p.Arg689His)	FARP2 (R689H)	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
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 2329254	NM_014808.4(FARP2):c.2930G>A (p.Gly977Asp)	FARP2, STK25 (G977D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2323351	NM_014808.4(FARP2):c.2293C>G (p.Leu765Val)	FARP2 (L765V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319323	NM_014808.4(FARP2):c.2597G>C (p.Gly866Ala)	FARP2 (G866A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318557	NM_014808.4(FARP2):c.2714C>T (p.Ala905Val)	FARP2 (A905V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316074	NM_014808.4(FARP2):c.3044A>G (p.Glu1015Gly)	FARP2, STK25 (E1015G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2314555	NM_014808.4(FARP2):c.1832A>C (p.His611Pro)	FARP2 (H611P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307980	NM_014808.4(FARP2):c.2882A>G (p.Tyr961Cys)	FARP2, STK25 (Y961C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307123	NM_014808.4(FARP2):c.2129A>T (p.His710Leu)	FARP2 (H710L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305151	NM_014808.4(FARP2):c.2968C>A (p.His990Asn)	FARP2, STK25 (H990N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2302870	NM_014808.4(FARP2):c.2087G>A (p.Cys696Tyr)	FARP2 (C696Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288516	NM_014808.4(FARP2):c.2600G>A (p.Arg867His)	FARP2 (R867H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275743	NM_014808.4(FARP2):c.1963A>G (p.Lys655Glu)	FARP2 (K655E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270451	NM_014808.4(FARP2):c.1815A>T (p.Glu605Asp)	FARP2 (E605D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268953	NM_014808.4(FARP2):c.2662G>A (p.Asp888Asn)	FARP2 (D888N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267180	NM_014808.4(FARP2):c.2752A>G (p.Ser918Gly)	FARP2 (S918G)	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 2258457	NM_014808.4(FARP2):c.2008T>A (p.Cys670Ser)	FARP2 (C670S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257763	NM_014808.4(FARP2):c.2730C>G (p.His910Gln)	FARP2 (H910Q)	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 2245117	NM_014808.4(FARP2):c.2654A>C (p.Glu885Ala)	FARP2 (E885A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244009	NM_014808.4(FARP2):c.2252C>T (p.Ala751Val)	FARP2 (A751V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2237200	NM_014808.4(FARP2):c.2696G>A (p.Gly899Glu)	FARP2 (G899E)	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 2232123	NM_014808.4(FARP2):c.2379C>G (p.Ser793Arg)	FARP2 (S793R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2226244	NM_014808.4(FARP2):c.1675G>A (p.Val559Met)	FARP2 (V559M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222936	NM_014808.4(FARP2):c.2765C>G (p.Ala922Gly)	FARP2 (A922G)	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

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